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
CBWD3	445571	broad.mit.edu	37	9	70871889	70871889	+	Silent	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:70871889C>T	ENST00000360171.6	+	5	1034	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	161							ATP binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTGATATTTACCTTGATGGTA	0.294000													7	663					0	0	1	0	0
PRSS23	11098	broad.mit.edu	37	11	86518765	86518765	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr11:86518765C>T	ENST00000280258.5	+	2	505	c.80C>T	c.(79-81)cCc>cTc	p.P27L	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.P27L	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	27					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TACAGTGCCCCCTGGAAACCC	0.547000													100	348					0	0	1	0	0
CKAP2L	150468	broad.mit.edu	37	2	113498574	113498574	+	Silent	SNP	A	A	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:113498574A>T	ENST00000541405.1	-	8	1861	c.1338T>A	c.(1336-1338)tcT>tcA	p.S446S	CKAP2L_ENST00000302450.6_Silent_p.S611S|NT5DC4_ENST00000327581.4_Intron			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	611						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CTAAAGAGTCAGAAGTAATCC	0.348000													5	359					0	0	1	0	0
TREX2	11219	broad.mit.edu	37	X	152710707	152710707	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chrX:152710707G>A	ENST00000330912.2	-	13	1732	c.182C>T	c.(181-183)aCg>aTg	p.T61M	TREX2_ENST00000370231.2_Missense_Mutation_p.T61M|TREX2_ENST00000414588.1_Missense_Mutation_p.T103M|TREX2_ENST00000402951.1_Missense_Mutation_p.T104M|TREX2_ENST00000338525.2_Missense_Mutation_p.T61M|TREX2_ENST00000393862.2_Missense_Mutation_p.T61M|TREX2_ENST00000370232.1_Missense_Mutation_p.T104M|TREX2_ENST00000334497.2_Missense_Mutation_p.T104M			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	104					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATGCACAGCGTGAGCTTGTC	0.657000								Editing and processing nucleases					28	37					0	0	1	0	0
CARD9	64170	broad.mit.edu	37	9	139266428	139266428	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:139266428G>A	ENST00000371732.5	-	2	268	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	CARD9_ENST00000315908.7_Missense_Mutation_p.R35W|CARD9_ENST00000371734.3_Missense_Mutation_p.R35W	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	35	CARD.				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		TTGCACTGCCGCAGGTAAGGT	0.627000													6	566					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237586430	237586430	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:237586430G>A	ENST00000366574.2	+	12	1204	c.887G>A	c.(886-888)cGa>cAa	p.R296Q	RYR2_ENST00000360064.6_Missense_Mutation_p.R294Q|RYR2_ENST00000542537.1_Missense_Mutation_p.R280Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	296	MIR 4.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGCCATTCCGACTACGCCAT	0.418000													15	481					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166900451	166900451	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:166900451C>T	ENST00000423058.2	-	11	1788	c.1771G>A	c.(1771-1773)Gca>Aca	p.A591T	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.A591T|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.A591T|SCN1A_ENST00000375405.3_Missense_Mutation_p.A591T	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	591						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCATCATCTGCGAAGTCGTTC	0.517000													62	242					0	0	1	0	0
PCDHA7	0	broad.mit.edu	37	5	140214165	140214165	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr5:140214165C>T	ENST00000525929.1	+	1	197	c.197C>T	c.(196-198)gCg>gTg	p.A66V	PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A66V|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTTCCGGGCGGTGTGCAAA	0.617000													165	586					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							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)		TCTTAACTTACTGTTGTGAAA	0.418000													15	129					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					6	224					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87138791	87138791	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr7:87138791C>A	ENST00000265724.3	-	27	3706	c.3289G>T	c.(3289-3291)Gat>Tat	p.D1097Y	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.D1033Y	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1097	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TCTTTGCCATCAAGCAGCTGA	0.453000													36	155					4.65686e-17	5.05489e-17	1	1	0
SIRPA	140885	broad.mit.edu	37	20	1902206	1902206	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr20:1902206T>C	ENST00000358771.4	+	3	754	c.602T>C	c.(601-603)gTa>gCa	p.V201A	SIRPA_ENST00000400068.3_Missense_Mutation_p.V201A|SIRPA_ENST00000356025.3_Missense_Mutation_p.V201A	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	201	Ig-like C1-type 1.		VG -> AR.		blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GTGGACCCCGTAGGAGAGAGC	0.572000													4	303					0	0	1	0	0
ZNF708	7562	broad.mit.edu	37	19	21476689	21476689	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:21476689T>C	ENST00000356929.3	-	4	1276	c.1079A>G	c.(1078-1080)gAa>gGa	p.E360G		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						GGGTTTCTCTTCAGTATGAAT	0.363000													6	409					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684301	100684301	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr7:100684301A>C	ENST00000306151.4	+	3	9668	c.9604A>C	c.(9604-9606)Act>Cct	p.T3202P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3202	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACTGAAGCCACTTCATCTAC	0.502000													8	1031					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53644061	53644061	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:53644061C>T	ENST00000452676.2	-	5	2449	c.2023G>A	c.(2023-2025)Gtt>Att	p.V675I	ZNF347_ENST00000601469.2_Missense_Mutation_p.V675I|ZNF347_ENST00000334197.7_Missense_Mutation_p.V674I|ZNF347_ENST00000601804.1_Intron	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	674					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CCAGTATGAACTCTCCGATGT	0.423000													7	669					0	0	1	0	0
OBP2B	29989	broad.mit.edu	37	9	136081792	136081792	+	Missense_Mutation	SNP	C	C	T	rs1132280		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:136081792C>T	ENST00000372034.3	-	5	441	c.400G>A	c.(400-402)Gat>Aat	p.D134N	OBP2B_ENST00000372032.2_3'UTR|OBP2B_ENST00000461961.1_5'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	134					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		CGGTTGGTATCAGAATTCCTA	0.612000													7	283					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													15	506					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38994959	38994959	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:38994959C>T	ENST00000355481.4	+	50	8157	c.8026C>T	c.(8026-8028)Cgg>Tgg	p.R2676W	RYR1_ENST00000360985.3_Missense_Mutation_p.R2676W|RYR1_ENST00000359596.3_Missense_Mutation_p.R2676W	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2676	6 X approximate repeats.		R -> W (in MHS1; located on the same allele as S-2787; dbSNP:rs28934001).		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCACCTCACACGGAAACTCTT	0.582000													71	123					0	0	1	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123682836	123682836	+	Silent	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:123682836C>T	ENST00000606320.1	-	12	2189	c.1983G>A	c.(1981-1983)gtG>gtA	p.V661V	MPHOSPH9_ENST00000392425.3_Silent_p.V509V|MPHOSPH9_ENST00000302349.5_Silent_p.V509V|MPHOSPH9_ENST00000541076.2_Silent_p.V631V			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	509					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CAAGTGTTCTCACGCGACTAG	0.323000													19	62					0	0	1	0	0
GP1BA	2811	broad.mit.edu	37	17	4836037	4836037	+	Silent	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr17:4836037G>A	ENST00000329125.5	+	2	213	c.138G>A	c.(136-138)ccG>ccA	p.P46P		NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	46										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						CAGACCTGCCGAAAGACACAA	0.552000													5	485					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					6	226					0	0	1	0	0
PRRT2	112476	broad.mit.edu	37	16	29824835	29824835	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr16:29824835C>T	ENST00000300797.6	+	2	634	c.460C>T	c.(460-462)Cca>Tca	p.P154S	PRRT2_ENST00000567659.1_Missense_Mutation_p.P154S|AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000358758.7_Missense_Mutation_p.P154S|PRRT2_ENST00000567551.1_Intron			Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	154	Pro-rich.				response to biotic stimulus	integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						TACCCCCAAGCCAGCCCTTCA	0.637000													32	99					0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	156978980	156978980	+	Silent	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr3:156978980G>A	ENST00000362010.2	-	14	2752	c.2445C>T	c.(2443-2445)aaC>aaT	p.N815N	RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392832.2_Silent_p.N815N|VEPH1_ENST00000392833.2_Silent_p.N770N|RP11-550I24.2_ENST00000488040.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000543418.1_Silent_p.N770N	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	815	PH.					plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CAACTGCCACGTTGATGCACT	0.448000													77	236					0	0	1	0	0
CNIH3	149111	broad.mit.edu	37	1	224922304	224922304	+	Silent	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:224922304C>T	ENST00000272133.3	+	5	1233	c.351C>T	c.(349-351)taC>taT	p.Y117Y		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	117					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane				large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		AACTAGCCTACGACCCACCGG	0.517000													58	240					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195515435	195515435	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr3:195515435C>T	ENST00000463781.3	-	2	3475	c.3016G>A	c.(3016-3018)Gcc>Acc	p.A1006T	MUC4_ENST00000475231.1_Missense_Mutation_p.A1006T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1008	Repeat.|Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.A1006T(2)		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)		AGAGGGGTGGCGTGACCTGTG	0.582000													3	29					0	0	1	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067087	18067087	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr7:18067087T>C	ENST00000506618.2	-	1	399	c.319A>G	c.(319-321)Atc>Gtc	p.I107V		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	107					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TTGGCAGAGATTGGGGACCGG	0.463000													94	337					0	0	1	0	0
ZNF79	7633	broad.mit.edu	37	9	130207140	130207140	+	Silent	SNP	A	A	G			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:130207140A>G	ENST00000342483.5	+	5	1567	c.1161A>G	c.(1159-1161)aaA>aaG	p.K387K	ZNF79_ENST00000543471.1_Silent_p.K363K	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CTGGGGAGAAACCCTACAAGT	0.532000													6	279					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227662563	227662563	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:227662563C>T	ENST00000305123.4	-	1	1912	c.892G>A	c.(892-894)Ggg>Agg	p.G298R		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	298	Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CGGGTCAGCCCCACCTGGCTG	0.687000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	79	328					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23893229	23893229	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr14:23893229T>C	ENST00000355349.3	-	23	2971	c.2809A>G	c.(2809-2811)Act>Gct	p.T937A		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	937					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTCTTGGCAGTGAGCTCAGCA	0.522000													99	357					0	0	1	0	0
RP11-248G5.8	0	broad.mit.edu	37	13	52864001	52864001	+	RNA	SNP	A	A	G			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr13:52864001A>G	ENST00000451298.1	-	0	168				RP11-64P12.8_ENST00000606031.1_RNA																							GAAAAAATAAAGCAATAGCTA	0.313000													4	201					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29989217	29989217	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr16:29989217G>A	ENST00000308893.4	+	2	1167	c.124G>A	c.(124-126)Gta>Ata	p.V42I	TAOK2_ENST00000279394.3_Missense_Mutation_p.V42I|TAOK2_ENST00000543033.1_Missense_Mutation_p.V42I	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	42	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CTTTGGAGCCGTATACTTTGT	0.532000													5	471					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	T	rs121913530		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:25398285C>T	ENST00000311936.3	-	2	225	c.34G>A	c.(34-36)Ggt>Agt	p.G12S	KRAS_ENST00000556131.1_Missense_Mutation_p.G12S|KRAS_ENST00000557334.1_Missense_Mutation_p.G12S|KRAS_ENST00000256078.4_Missense_Mutation_p.G12S	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			26	108					0	0	1	0	0
ZNF93	81931	broad.mit.edu	37	19	20045193	20045193	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:20045193G>A	ENST00000343769.5	+	4	1457	c.1429G>A	c.(1429-1431)Gga>Aga	p.G477R	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	477						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						AATTCATACTGGAGAGAAACC	0.373000													6	479					0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21806573	21806573	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:21806573A>G	ENST00000318220.6	+	14	2118	c.1070A>G	c.(1069-1071)gAg>gGg	p.E357G	NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	413	NBPF 2.					cytoplasm		p.E413G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GATGAGAAAGAGCCTGAAGTC	0.463000													6	363					0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74915507	74915507	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr11:74915507C>T	ENST00000289575.5	+	14	2407	c.2012C>T	c.(2011-2013)gCt>gTt	p.A671V	SLCO2B1_ENST00000454962.2_Missense_Mutation_p.A444V|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.A555V|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.A444V|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.A649V|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.A527V	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	671					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	TTAGTTTTGGCTGTCCTGAGG	0.542000													5	354					0	0	1	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627757	43627757	+	Silent	SNP	A	A	G			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:43627757A>G	ENST00000332857.6	-	4	958	c.930T>C	c.(928-930)tgT>tgC	p.C310C		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		CTTCCATCTGACAGGTCTCTG	0.532000													8	575					0	0	1	0	0
RP11-248G5.8	0	broad.mit.edu	37	13	52864028	52864028	+	RNA	SNP	C	C	T	rs138483057	by1000genomes	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr13:52864028C>T	ENST00000451298.1	-	0	141				RP11-64P12.8_ENST00000606031.1_RNA																							TAGAATGATACTCCAAAGGAA	0.313000													7	222					0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21991811	21991811	+	Missense_Mutation	SNP	G	G	T	rs149679417	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:21991811G>T	ENST00000594012.1	-	7	1524	c.1010C>A	c.(1009-1011)aCa>aAa	p.T337K	ZNF43_ENST00000354959.4_Missense_Mutation_p.T343K|ZNF43_ENST00000598381.1_Missense_Mutation_p.T337K|ZNF43_ENST00000595461.1_Missense_Mutation_p.T337K	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TTCTTCACATGTGTAGGGTTT	0.383000													6	419					0.000157383	0.000161191	1	1	0
CGREF1	10669	broad.mit.edu	37	2	27324303	27324303	+	Missense_Mutation	SNP	C	C	T	rs113949888		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:27324303C>T	ENST00000402394.1	-	6	1064	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	CGREF1_ENST00000404694.3_Missense_Mutation_p.E388K|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000260595.5_Missense_Mutation_p.E249K|CGREF1_ENST00000405600.1_Missense_Mutation_p.E266K|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000312734.4_Missense_Mutation_p.E266K	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	258					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATCTCCTTCAGCCTCTGCC	0.687000													8	674					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582000													5	333					0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12187275	12187275	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:12187275G>C	ENST00000439326.3	+	4	1515	c.1340G>C	c.(1339-1341)cGt>cCt	p.R447P	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R447P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCGTATGAGTGTA	0.433000													5	365					0	0	1	0	0
ARC	23237	broad.mit.edu	37	8	143694625	143694625	+	Silent	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr8:143694625G>A	ENST00000356613.2	-	1	2208	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F		NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	336					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				GGTGGCGCAGGAAACGCTTGA	0.682000													73	344					0	0	1	0	0
ZNF780A	284323	broad.mit.edu	37	19	40580912	40580912	+	Silent	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:40580912C>T	ENST00000450241.2	-	6	1646	c.1335G>A	c.(1333-1335)ggG>ggA	p.G445G	AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Silent_p.G480G|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Silent_p.G480G|ZNF780A_ENST00000595687.2_Silent_p.G479G|ZNF780A_ENST00000340963.5_Silent_p.G479G			O75290	Z780A_HUMAN	zinc finger protein 780A	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGAAGGCCTTCCCACAGTCTT	0.423000													6	502					0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133993	22133993	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr14:22133993C>T	ENST00000408935.1	+	1	697	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		AGCTGAAGGGCGCCAGAAAGC	0.527000													44	155					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													8	383					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22661312	22661312	+	RNA	SNP	T	T	C	rs3855711		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr22:22661312T>C	ENST00000426066.1	+	0	360					NR_027293.1																						TGAATTTGTGTAGAACTTTGA	0.473000													7	147					0	0	1	0	0
OR14K1	343170	broad.mit.edu	37	1	247902215	247902215	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:247902215T>C	ENST00000283225.2	+	1	299	c.299T>C	c.(298-300)tTc>tCc	p.F100S	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						TTGCAGCTCTTCTTGGTGGTA	0.542000													71	290					0	0	1	0	0
OBP2B	29989	broad.mit.edu	37	9	136081795	136081795	+	Missense_Mutation	SNP	A	A	G	rs1132279		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:136081795A>G	ENST00000372034.3	-	5	438	c.397T>C	c.(397-399)Tct>Cct	p.S133P	OBP2B_ENST00000372032.2_3'UTR|OBP2B_ENST00000461961.1_5'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	133					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity	p.S133P(2)		central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		TTGGTATCAGAATTCCTACCT	0.612000													8	277					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22661478	22661478	+	RNA	SNP	T	T	G			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr22:22661478T>G	ENST00000426066.1	+	0	368					NR_027293.1																						CAGATGCGTCTGAAGAAACAT	0.488000													4	180					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170062574	170062574	+	Silent	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:170062574G>A	ENST00000263816.3	-	40	7800	c.7515C>T	c.(7513-7515)cgC>cgT	p.R2505R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2505					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R2505R(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTTTTGGAACGCGGGCTATCA	0.428000													100	342					0	0	1	0	0
ZWILCH	55055	broad.mit.edu	37	15	66832448	66832448	+	Silent	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr15:66832448G>A	ENST00000307897.5	+	17	1967	c.1587G>A	c.(1585-1587)caG>caA	p.Q529Q	ZWILCH_ENST00000446801.2_Silent_p.Q415Q|ZWILCH_ENST00000565627.1_Silent_p.Q415Q|ZWILCH_ENST00000535141.2_Silent_p.Q415Q	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	529					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						AGAAGCCACAGAAATGGAGAG	0.373000													60	112					0	0	1	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627758	43627758	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:43627758C>T	ENST00000332857.6	-	4	957	c.929G>A	c.(928-930)tGt>tAt	p.C310Y		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		TTCCATCTGACAGGTCTCTGG	0.537000													7	580					0	0	1	0	0
ZMYM5	9205	broad.mit.edu	37	13	20409664	20409664	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr13:20409664G>A	ENST00000337963.4	-	7	1468	c.1204C>T	c.(1204-1206)Cag>Tag	p.Q402*		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	402						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		CTCTTCTGCTGACCTCCAATC	0.378000													5	225					0	0	1	0	0
TRGV8	0	broad.mit.edu	37	7	38370217	38370217	+	RNA	SNP	C	C	G			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr7:38370217C>G	ENST00000390343.2	-	0	194																											TGGTGACTGACTTTGTTCTCC	0.463000													5	272					0	0	1	0	0
ANKRD44	91526	broad.mit.edu	37	2	197990583	197990583	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:197990583G>A	ENST00000328737.2	-	5	441	c.365C>T	c.(364-366)gCg>gTg	p.A122V	ANKRD44_ENST00000450567.1_Missense_Mutation_p.A122V|ANKRD44_ENST00000282272.8_Missense_Mutation_p.A139V|ANKRD44_ENST00000409919.1_Missense_Mutation_p.A147V|ANKRD44_ENST00000337207.5_Missense_Mutation_p.A122V|ANKRD44_ENST00000409153.1_Missense_Mutation_p.A147V|ANKRD44_ENST00000539527.1_Missense_Mutation_p.A75V			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	147							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTCAGAGCCGCATGGTGCAA	0.542000													5	388					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117703242	117703242	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:117703242C>T	ENST00000317775.6	-	12	2700	c.2015G>A	c.(2014-2016)cGc>cAc	p.R672H	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.R672H	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	672					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCCCCGGCAGCGGTACTCATT	0.602000													11	28					0	0	1	0	0
AGER	177	broad.mit.edu	37	6	32151673	32151673	+	Silent	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr6:32151673C>T	ENST00000375076.4	-	2	245	c.144G>A	c.(142-144)cgG>cgA	p.R48R	AGER_ENST00000538695.1_Silent_p.R48R|AGER_ENST00000438221.2_Silent_p.R48R|AGER_ENST00000375065.5_Silent_p.R48R|AGER_ENST00000375055.2_Silent_p.R48R|RNF5_ENST00000427134.2_3'UTR|AGER_ENST00000375067.3_Silent_p.R48R|AGER_ENST00000375069.3_5'UTR|AGER_ENST00000375070.3_Silent_p.R79R	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	48	Ig-like V-type.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						TCCATTCCAGCCGCTGGGGTG	0.582000													44	236					0	0	1	0	0
CSNK2A1	1457	broad.mit.edu	37	20	470440	470440	+	Missense_Mutation	SNP	T	T	C	rs61730060		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr20:470440T>C	ENST00000217244.3	-	10	1082	c.707A>G	c.(706-708)cAt>cGt	p.H236R	CSNK2A1_ENST00000400227.3_Missense_Mutation_p.H236R|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.H236R|CSNK2A1_ENST00000400217.1_Missense_Mutation_p.H100R|CSNK2A1_ENST00000460062.1_5'UTR	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	236	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	p.H236R(2)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			ATAATTGTCATGTCCATGGAA	0.373000													6	133					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110230539	110230539	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:110230539G>A	ENST00000418703.2	-	10	1836	c.1742C>T	c.(1741-1743)gCc>gTc	p.A581V	TRPV4_ENST00000541794.1_Missense_Mutation_p.A534V|TRPV4_ENST00000392719.2_Missense_Mutation_p.A534V|TRPV4_ENST00000261740.2_Missense_Mutation_p.A581V|TRPV4_ENST00000536838.1_Missense_Mutation_p.A547V|TRPV4_ENST00000537083.1_Missense_Mutation_p.A521V|TRPV4_ENST00000544971.1_Missense_Mutation_p.A474V|TRPV4_ENST00000346520.2_Missense_Mutation_p.A521V	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	581					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CAGGACCAGGGCAAAGACCAT	0.587000													4	102					0	0	1	0	0
RP11-114H24.7	0	broad.mit.edu	37	15	78211517	78211517	+	RNA	SNP	C	C	G			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557000													7	414					0	0	1	0	0
HDAC5	10014	broad.mit.edu	37	17	42160137	42160137	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr17:42160137C>A	ENST00000225983.6	-	19	2841	c.2518G>T	c.(2518-2520)Gcc>Tcc	p.A840S	HDAC5_ENST00000393622.2_Missense_Mutation_p.A839S|HDAC5_ENST00000336057.5_Missense_Mutation_p.A754S|HDAC5_ENST00000586802.1_Missense_Mutation_p.A839S			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	839	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		ACTCACATGGCTGTGGATTCC	0.602000													3	25					1	1	1	1	0
ARHGAP36	158763	broad.mit.edu	37	X	130220336	130220336	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chrX:130220336C>T	ENST00000276211.5	+	10	1660	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R303C|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R427C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	439					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R439C(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GGTTGCTAAGCGCGTGTGGAA	0.453000													71	92					0	0	1	0	0
POM121C	100101267	broad.mit.edu	37	7	75051015	75051015	+	Silent	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr7:75051015C>T	ENST00000453279.2	-	13	3384	c.2520G>A	c.(2518-2520)tcG>tcA	p.S840S	POM121C_ENST00000257665.5_Silent_p.S1082S	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1082	Pore side (Potential).|Thr-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CGGGGGCTGCCGAACCCCCAA	0.652000													5	132					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125396503	125396503	+	Silent	SNP	G	G	A	rs6657		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:125396503G>A	ENST00000536769.1	-	1	3391	c.1815C>T	c.(1813-1815)ctC>ctT	p.L605L	UBC_ENST00000546120.1_Silent_p.L529L|UBC_ENST00000538617.1_Silent_p.L225L|UBC_ENST00000339647.5_Silent_p.L605L			P0CG48	UBC_HUMAN	ubiquitin C	605	Ubiquitin-like 8.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.L605L(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCCCACCTCTGAGACGGAGCA	0.537000													6	307					0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6596365	6596365	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr4:6596365G>C	ENST00000285599.3	+	7	999	c.963G>C	c.(961-963)caG>caC	p.Q321H	MAN2B2_ENST00000504248.1_Missense_Mutation_p.Q270H	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	321					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TCTCGGTGCAGTATGCCACGC	0.597000													35	106					0	0	1	0	0
MIR1283-2	0	broad.mit.edu	37	19	54261563	54261563	+	RNA	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:54261563G>A	ENST00000408621.1	+	0	78					NR_031696.1																						GGAGTGTTACGGTTTGAGAAA	0.453000													65	325					0	0	1	0	0
CCAR1	55749	broad.mit.edu	37	10	70516196	70516196	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr10:70516196G>A	ENST00000265872.6	+	14	1911	c.1792G>A	c.(1792-1794)Gtc>Atc	p.V598I	CCAR1_ENST00000483264.1_3'UTR|CCAR1_ENST00000543719.1_Missense_Mutation_p.V583I|CCAR1_ENST00000535016.1_Missense_Mutation_p.V583I	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	598					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GCAGCAGCTGGTCGAGAAGCT	0.522000													21	64					0	0	1	0	0
B3GAT3	26229	broad.mit.edu	37	11	62389371	62389371	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr11:62389371T>A	ENST00000531383.1	-	1	255	c.49A>T	c.(49-51)Atc>Ttc	p.I17F	B3GAT3_ENST00000265471.5_Missense_Mutation_p.I17F|B3GAT3_ENST00000534026.1_Missense_Mutation_p.I17F			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	17					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						AGGCCGGCGATCGACACCAGG	0.746000													35	113					0	0	1	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													14	178					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155223	22155223	+	Silent	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:22155223T>C	ENST00000397126.4	-	4	2761	c.2613A>G	c.(2611-2613)aaA>aaG	p.K871K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.K771K(2)|p.K871K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGAGGGCCATTTATAGGCTT	0.373000													6	372					0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7666172	7666172	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr4:7666172G>A	ENST00000507866.2	+	7	1154	c.1045G>A	c.(1045-1047)Gtg>Atg	p.V349M	SORCS2_ENST00000329016.9_Missense_Mutation_p.V177M	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	349						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GTCTCTGACCGTGCAGGACGA	0.532000													27	102					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220500451	220500451	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:220500451C>T	ENST00000358055.3	+	14	2541	c.2029C>T	c.(2029-2031)Cgg>Tgg	p.R677W	SLC4A3_ENST00000317151.3_Missense_Mutation_p.R677W|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R704W|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R704W|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R677W			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	677					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCCTTGCTGCGGACGGGCTC	0.642000													4	61					0	0	1	0	0
ARC	23237	broad.mit.edu	37	8	143694586	143694586	+	Silent	SNP	G	G	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr8:143694586G>T	ENST00000356613.2	-	1	2247	c.1047C>A	c.(1045-1047)atC>atA	p.I349I		NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	349					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				TGCCCCTCTGGATGAGCTGCT	0.697000													60	243					1.00798e-23	1.11316e-23	1	1	0
ZNF493	284443	broad.mit.edu	37	19	21606468	21606468	+	Missense_Mutation	SNP	C	C	T	rs142651314	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:21606468C>T	ENST00000392288.2	+	4	1116	c.1007C>T	c.(1006-1008)cCt>cTt	p.P336L	ZNF493_ENST00000355504.4_Missense_Mutation_p.P208L|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TTCTCAACCCCTACTAAACAT	0.348000													5	372					0	0	1	0	0
ANGPTL2	23452	broad.mit.edu	37	9	129851341	129851341	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:129851341G>T	ENST00000373425.3	-	5	1976	c.1359C>A	c.(1357-1359)taC>taA	p.Y453*	RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000373417.1_Nonsense_Mutation_p.Y151*|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000373436.1_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	453	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						GGCCCCCGCGGTACCAGACCC	0.582000													117	406					1.14472e-53	1.28654e-53	1	1	0
POLR2G	5436	broad.mit.edu	37	11	62533969	62533969	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr11:62533969T>C	ENST00000301788.7	+	8	614	c.509T>C	c.(508-510)cTt>cCt	p.L170P		NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN	polymerase (RNA) II (DNA directed) polypeptide G	170					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|protein binding|RNA binding			lung(3)	3						TTCGCAGGGCTTGTAAGCTGA	0.488000													53	154					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186050343	186050343	+	Silent	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:186050343G>A	ENST00000271588.4	+	56	8833	c.8604G>A	c.(8602-8604)ccG>ccA	p.P2868P	HMCN1_ENST00000367492.2_Silent_p.P2868P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2868	Ig-like C2-type 27.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTTAGTGCCGCCAATTATCA	0.423000													8	898					0	0	1	0	0
RP11-119F19.2	0	broad.mit.edu	37	10	81443821	81443821	+	RNA	SNP	C	C	G	rs150975459	by1000genomes	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr10:81443821C>G	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							GCAGCACCATCGCCTCAGACC	0.612000													6	74					0	0	1	0	0
C19orf26	255057	broad.mit.edu	37	19	1236016	1236016	+	Silent	SNP	G	G	A	rs146688767		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:1236016G>A	ENST00000590083.1	-	2	376	c.84C>T	c.(82-84)gaC>gaT	p.D28D	C19orf26_ENST00000215376.6_Silent_p.D22D|C19orf26_ENST00000382477.2_Silent_p.D22D			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	22	Thr-rich.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		CAGTGGCATTGTCCCACGACG	0.687000										HNSCC(14;0.022)			40	112					0	0	1	0	0
MTMR12	54545	broad.mit.edu	37	5	32229910	32229910	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr5:32229910C>T	ENST00000382142.3	-	16	2388	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K	MTMR12_ENST00000264934.5_Missense_Mutation_p.E630K|MTMR12_ENST00000280285.5_Missense_Mutation_p.E686K	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	740						cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCCACGAACTCATCTTCTCGT	0.507000													59	177					0	0	1	0	0
ENC1	8507	broad.mit.edu	37	5	73930609	73930609	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr5:73930609T>C	ENST00000302351.4	-	2	2832	c.1702A>G	c.(1702-1704)Atc>Gtc	p.I568V	ENC1_ENST00000537006.1_Missense_Mutation_p.I568V|ENC1_ENST00000510316.1_Missense_Mutation_p.I495V	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	568				YTAAAVLGNQIFIMGGDTEFSACSAYKFNSETYQWTKVGDV TAKRMSCHAVASGNKLYVVGGYFGIQRCKTLDCYDPTLDVW NSITTVPYSLIPTAFVSTWKHLPS -> IHSQASCPGGTQD FLLWGVIQNFSACFCL (in Ref. 1; AAC39532).	nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		ACAGTGGTGATGCTGTTCCAC	0.473000													41	108					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79031709	79031709	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr5:79031709C>A	ENST00000446378.2	+	2	7152	c.7121C>A	c.(7120-7122)tCa>tAa	p.S2374*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2374						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAACAAAAATCACTCCTTTCA	0.368000													39	157					5.43694e-19	5.95251e-19	1	1	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22661328	22661328	+	RNA	SNP	G	G	A	rs1044439		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr22:22661328G>A	ENST00000426066.1	+	0	360					NR_027293.1																						TTTGACCCCCGTTACCCCATT	0.507000													7	145					0	0	1	0	0
KRTAP9-3	83900	broad.mit.edu	37	17	39389087	39389087	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr17:39389087T>G	ENST00000411528.2	+	1	373	c.334T>G	c.(334-336)Tgt>Ggt	p.C112G		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	112	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament	protein binding	p.P114fs*3(1)		breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CACAAGTGTTTGTCTGCCTGG	0.602000													89	276					0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152382749	152382749	+	Missense_Mutation	SNP	G	G	A	rs3814301		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:152382749G>A	ENST00000271835.3	-	3	871	c.809C>T	c.(808-810)aCc>aTc	p.T270I	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	270	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGACCGTGGGTCTCAGTCCC	0.612000													9	1303					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|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		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433000													5	342					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													15	505					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7177305	7177305	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:7177305G>T	ENST00000406697.1	+	15	2045	c.1417G>T	c.(1417-1419)Gct>Tct	p.A473S	C1S_ENST00000495061.1_3'UTR|C1S_ENST00000402681.3_Missense_Mutation_p.A306S|C1S_ENST00000328916.3_Missense_Mutation_p.A473S|C1S_ENST00000360817.5_Missense_Mutation_p.A473S			P09871	C1S_HUMAN	complement component 1, s subcomponent	473	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGTGCTGACGGCTGCTCATGT	0.517000													45	172					5.48756e-27	6.11334e-27	1	1	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													7	337					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			26	109					1.39806e-14	1.50469e-14	1	1	0
ANK3	288	broad.mit.edu	37	10	61844558	61844558	+	Silent	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr10:61844558T>C	ENST00000280772.1	-	32	4067	c.3876A>G	c.(3874-3876)ttA>ttG	p.L1292L	ANK3_ENST00000503366.1_Silent_p.L1293L|ANK3_ENST00000373827.2_Silent_p.L1286L|ANK3_ENST00000355288.2_Silent_p.L426L	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1292					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						CCACAGTTTCTAAAACTTGAT	0.363000													66	202					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145359109	145359109	+	Missense_Mutation	SNP	T	T	A	rs3967942		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:145359109T>A	ENST00000342960.5	+	72	9084	c.9049T>A	c.(9049-9051)Tgt>Agt	p.C3017S	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3017								p.C3017S(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TCTTGAACTGTGTGACTCATG	0.483000													7	169					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154300339	154300339	+	Splice_Site	SNP	C	C	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:154300339C>A	ENST00000368489.3	+	1	62		c.e1+2		ATP8B2_ENST00000368487.3_Intron	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2						ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCCTACAGGCATGGGCTTCT	0.557000													7	551					0.27861	0.280822	1	1	0
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468	by1000genomes	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413000													5	173					0	0	1	0	0
FUZ	80199	broad.mit.edu	37	19	50314661	50314661	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:50314661A>G	ENST00000313777.4	-	5	614	c.451T>C	c.(451-453)Tgt>Cgt	p.C151R	FUZ_ENST00000445575.2_Missense_Mutation_p.C151R|FUZ_ENST00000526575.1_3'UTR|FUZ_ENST00000528094.1_Missense_Mutation_p.C115R|FUZ_ENST00000533418.1_Missense_Mutation_p.C101R|FUZ_ENST00000534008.1_5'UTR	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	151					cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		CAGTCCACACACTGGGTCAGG	0.572000													29	49					0	0	1	0	0
OBP2B	29989	broad.mit.edu	37	9	136081782	136081782	+	Missense_Mutation	SNP	C	C	A	rs1132281		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:136081782C>A	ENST00000372034.3	-	5	451	c.410G>T	c.(409-411)cGg>cTg	p.R137L	OBP2B_ENST00000372032.2_3'UTR|OBP2B_ENST00000461961.1_5'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	137					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity	p.R137L(1)		central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		CAGGGCCTCCCGGTTGGTATC	0.607000													9	329					9.31168e-06	9.69331e-06	1	1	0
UBBP4	0	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	by1000genomes	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr17:21730916G>T	ENST00000584755.1	+	2	615	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron														p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552000													6	202					2.0095e-06	2.12672e-06	1	1	0
TXNDC2	0	broad.mit.edu	37	18	9886941	9886941	+	Silent	SNP	A	A	G			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr18:9886941A>G	ENST00000306084.6	+	2	664	c.465A>G	c.(463-465)aaA>aaG	p.K155K	TXNDC2_ENST00000536353.2_Silent_p.K88K|TXNDC2_ENST00000357775.4_Silent_p.K88K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	155	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCTCAGCAAAACCCATCCAGC	0.547000													6	622					0	0	1	0	0
NAA25	80018	broad.mit.edu	37	12	112530884	112530884	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:112530884T>C	ENST00000261745.4	-	2	363	c.115A>G	c.(115-117)Aag>Gag	p.K39E		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	39						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TTATGTTTCTTCAACAGTTTA	0.313000													9	255					0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55035844	55035844	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	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													5	244					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688625	60688625	+	Silent	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:60688625G>A	ENST00000335712.6	-	4	1649	c.1422C>T	c.(1420-1422)aaC>aaT	p.N474N	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Silent_p.N143N|BCL11A_ENST00000356842.4_Silent_p.N474N|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Silent_p.N440N|BCL11A_ENST00000538214.1_Silent_p.N440N	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	474					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGTTGGGGTCGTTCTCGCTCT	0.642000			T	IGH@	B-CLL								20	65					0	0	1	0	0
IFNLR1	163702	broad.mit.edu	37	1	24495932	24495932	+	Silent	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:24495932G>A	ENST00000327535.1	-	3	354	c.342C>T	c.(340-342)tcC>tcT	p.S114S	IFNLR1_ENST00000374418.3_Silent_p.S114S|IFNLR1_ENST00000374421.3_Silent_p.S114S|IFNLR1_ENST00000327575.2_Silent_p.S114S|IFNLR1_ENST00000374419.1_Silent_p.S31S	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1			interferon, lambda receptor 1																		CCAGGTATTCGGACTCCACCC	0.537000													25	82					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145027910	145027910	+	Silent	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr8:145027910C>T	ENST00000354958.2	-	1	178	c.30G>A	c.(28-30)gaG>gaA	p.E10E	PLEC_ENST00000527096.1_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000356346.3_Intron	NM_201379.1	NP_958781.1	Q15149	PLEC_HUMAN	plectin	0	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGGAGCTGATCTCGTTCTGGA	0.726000													28	210					0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145756121	145756121	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr8:145756121G>A	ENST00000276826.5	-	9	3223	c.3022C>T	c.(3022-3024)Cgc>Tgc	p.R1008C	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R1039C|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R1008C			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	1008	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						AGCACCATGCGGTTGATGCGG	0.721000													18	120					0	0	1	0	0
ADAM17	6868	broad.mit.edu	37	2	9663463	9663463	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:9663463T>A	ENST00000310823.3	-	7	940	c.758A>T	c.(757-759)gAg>gTg	p.E253V	ADAM17_ENST00000497134.1_Missense_Mutation_p.E253V	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	253	Peptidase M12B.				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		GTCAATTAGCTCTATCTGTGT	0.333000													72	226					0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62547800	62547800	+	Silent	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr14:62547800C>T	ENST00000430451.2	+	4	1439	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F	RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	414	C2 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ACCCCGTCTTCAGGGAGAAGG	0.582000													19	79					0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1811270	1811270	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr16:1811270G>T	ENST00000250894.4	+	13	1657	c.1500G>T	c.(1498-1500)gaG>gaT	p.E500D	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.E494D	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	500					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCAAAGAAGAGGCGGAGGATG	0.602000													104	330					1.98007e-57	2.24526e-57	1	1	0
TUBA4A	7277	broad.mit.edu	37	2	220115248	220115248	+	Silent	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:220115248C>T	ENST00000392088.2	-	4	1683	c.1128G>A	c.(1126-1128)ctG>ctA	p.L376L	TUBA4A_ENST00000248437.4_Silent_p.L391L	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	391					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTTGTGGTCCAGGCGGGCCC	0.637000													68	285					0	0	1	0	0
GRIN3B	116444	broad.mit.edu	37	19	1005311	1005311	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:1005311C>T	ENST00000234389.3	+	3	1830	c.1811C>T	c.(1810-1812)aCg>aTg	p.T604M		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	604					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	TACGGCCTCACGCCACGTGGC	0.662000													60	200					0	0	1	0	0
RP5-884C9.2	0	broad.mit.edu	37	1	38562824	38562825	+	RNA	DEL	AG	AG	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:38562824_38562825delAG	ENST00000432922.1	+	0	301																											ccacagaaacagagagagagag	0.500													3	6	---	---	---	---					
ST6GALNAC5	81849	broad.mit.edu	37	1	77334277	77334279	+	In_Frame_Del	DEL	GCA	GCA	-	rs113832855		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:77334277_77334279delGCA	ENST00000477717.1	+	2	346_348	c.111_113delGCA	c.(109-114)ccg>cc	p.PQ37del	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	37					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGCGGCCCCCgcagcagcagcag	0.700													8	124	---	---	---	---					
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:147091501delC	ENST00000234739.3	+	8	2280	c.1540delC	c.(1540-1542)ccfs	p.P517fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	517	Poly-Pro.|Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTCCGAGGACCCCCCCCTCC	0.582			T	"""IGH@, IGL@"""	B-ALL								10	690	---	---	---	---					
LMX1A	4009	broad.mit.edu	37	1	165177332	165177334	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:165177332_165177334delTGC	ENST00000342310.3	-	7	1165_1167	c.783_785delGCA	c.(781-786)caa>ca	p.QQ261del	LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_In_Frame_Del_p.QQ261del|LMX1A_ENST00000367893.4_In_Frame_Del_p.QQ261del	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	261	Gln-rich.|Poly-Gln.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CTGCTGATCTTGCTGCTGCTGCT	0.567													11	181	---	---	---	---					
AC019118.2	0	broad.mit.edu	37	2	2910879	2910880	+	RNA	INS	-	-	C	rs11453385		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:2910879_2910880insC	ENST00000457478.1	-	0	594																											acagccacccaccctacacctc	0.698													8	3	---	---	---	---					
AC007092.1	0	broad.mit.edu	37	2	58688842	58688843	+	RNA	DEL	CT	CT	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:58688842_58688843delCT	ENST00000452840.1	+	0	127																											TCTCTGCTAGCTCTCTCTCTCT	0.465													8	137	---	---	---	---					
AC018890.6	0	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	23	---	---	---	---					
SP100	6672	broad.mit.edu	37	2	231380272	231380273	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:231380272_231380273insA	ENST00000264052.5	+	25	2912_2913	c.2557_2558insA	c.(2557-2559)aaafs	p.K853fs	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	853					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		tgtcaaggctgaaaaaagcaag	0.366													14	41	---	---	---	---					
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr3:55733470_55733472delTGG	ENST00000288221.6	-	16	3036_3038	c.2781_2783delCCA	c.(2779-2784)cat>ca	p.HH931del		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	931	Poly-His.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		gtggtggtgatggtggtggtggt	0.502													8	940	---	---	---	---					
UROC1	131669	broad.mit.edu	37	3	126220106	126220106	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr3:126220106delT	ENST00000290868.2	-	10	973	c.920delA	c.(919-921)agfs	p.K307fs	UROC1_ENST00000383579.3_Frame_Shift_Del_p.K367fs	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	307					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GAGCACCTCCTTTTTTTTCCT	0.587													8	797	---	---	---	---					
TMCC1	23023	broad.mit.edu	37	3	129370576	129370578	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr3:129370576_129370578delCTG	ENST00000393238.3	-	6	2048_2050	c.1708_1710delCAG	c.(1708-1710)del	p.Q570del	TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del|TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	570						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCTGCACCACCTGCTGCTGCTGC	0.581													9	401	---	---	---	---					
IK	3550	broad.mit.edu	37	5	140032593	140032594	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr5:140032593_140032594delGA	ENST00000417647.2	+	5	407_408	c.268_269delGA	c.(268-270)gfs	p.E90fs	IK_ENST00000523672.1_3'UTR	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	90					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGAAATTGAGAGAGAGAGA	0.460													9	152	---	---	---	---					
DLC1	10395	broad.mit.edu	37	8	12957611	12957613	+	In_Frame_Del	DEL	GCT	GCT	-	rs137989738		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr8:12957611_12957613delGCT	ENST00000276297.4	-	9	2642_2644	c.2233_2235delAGC	c.(2233-2235)del	p.S745del	DLC1_ENST00000520226.1_In_Frame_Del_p.S234del|DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	745	Poly-Ser.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCTCCGACTGGCTGCTGCTGCTG	0.621													8	256	---	---	---	---					
AGO2	27161	broad.mit.edu	37	8	141554345	141554345	+	Frame_Shift_Del	DEL	G	G	-	rs148575703	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr8:141554345delG	ENST00000220592.5	-	14	1918	c.1806delC	c.(1804-1806)ccfs	p.P602fs	AGO2_ENST00000519980.1_Frame_Shift_Del_p.P602fs	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		CATCCCCGGCGGGGGGGTGAG	0.647													8	3024	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21974777	21974780	+	Frame_Shift_Del	DEL	GCCA	GCCA	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:21974777_21974780delGCCA	ENST00000304494.5	-	1	317_320	c.47_50delTGGC	c.(46-51)ccfs	p.LA16fs	CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	16			L -> P (in a biliary tract tumor and a familial melanoma).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.L16fs*9(3)|p.L16P(2)|p.S12fs*6(1)|p.0(1)|p.A17_T18insTA(1)|p.A17fs*5(1)|p.L16_A17insAT(1)|p.S7_A19del(1)|p.A17T(1)|p.L16R(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGCGGCCGTGGCCAGCCAGTCAGC	0.755		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			40	100	---	---	---	---					
SYT15	83849	broad.mit.edu	37	10	46969401	46969403	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr10:46969401_46969403delCAG	ENST00000374325.3	-	2	210_212	c.58_60delCTG	c.(58-60)del	p.L21del	SYT15_ENST00000374323.3_Intron|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374321.4_In_Frame_Del_p.L21del	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	21						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCCCGATCAACAGCAGCAGCAGC	0.631													7	247	---	---	---	---					
UVRAG	7405	broad.mit.edu	37	11	75694430	75694431	+	Splice_Site	INS	-	-	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr11:75694430_75694431insA	ENST00000356136.3	+	8	940_941		c.e8-1		UVRAG_ENST00000531818.1_Splice_Site|UVRAG_ENST00000533454.1_Splice_Site|UVRAG_ENST00000528420.1_Splice_Site|UVRAG_ENST00000532130.1_Splice_Site	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated						DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TATTTATTTAGAAAAAAAAAAG	0.302													7	193	---	---	---	---					
ANKRD49	54851	broad.mit.edu	37	11	94230058	94230059	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr11:94230058_94230059insA	ENST00000544253.1	+	2	317_318	c.199_200insA	c.(199-201)aaafs	p.K67fs	ANKRD49_ENST00000544612.1_Frame_Shift_Ins_p.K67fs|ANKRD49_ENST00000302755.4_Frame_Shift_Ins_p.K67fs|ANKRD49_ENST00000540349.1_Frame_Shift_Ins_p.K67fs			Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	67					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCGATTGCAAGAAAAAAAAATG	0.381													7	412	---	---	---	---					
PVRL1	5818	broad.mit.edu	37	11	119535678	119535680	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr11:119535678_119535680delCCT	ENST00000264025.3	-	6	1861_1863	c.1331_1333delAGG	c.(1330-1335)ggc>g	p.EG444del	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	444	Poly-Glu.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	p.E444fs*>73(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCTCCACCGCcctcctcctcctc	0.660													7	152	---	---	---	---					
FBXL3	26224	broad.mit.edu	37	13	77581683	77581683	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr13:77581683delA	ENST00000355619.5	-	5	1208	c.884delT	c.(883-885)tafs	p.L295fs	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	295					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.L295fs*3(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TTCTTCATATAAAAAAAAATA	0.418													9	296	---	---	---	---					
SLITRK5	26050	broad.mit.edu	37	13	88329794	88329796	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr13:88329794_88329796delCGG	ENST00000325089.6	+	2	2370_2372	c.2151_2153delCGG	c.(2149-2154)tac>ta	p.YG717del	SLITRK5_ENST00000400028.3_In_Frame_Del_p.YG476del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	717						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACAGCGTGTACGGCGGCGGCGGC	0.645													8	346	---	---	---	---					
FOXN3	1112	broad.mit.edu	37	14	89629149	89629151	+	In_Frame_Del	DEL	GAG	GAG	-	rs139532153		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr14:89629149_89629151delGAG	ENST00000345097.4	-	7	1196_1198	c.1080_1082delCTC	c.(1078-1083)tca>tc	p.SS360del	FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del|FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	360					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCGTCGGCTGAGGAGGAGGAGG	0.650													9	164	---	---	---	---					
IGHV4OR15-8	0	broad.mit.edu	37	15	22473095	22473096	+	RNA	INS	-	-	G			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr15:22473095_22473096insG	ENST00000557788.2	-	0	174_175																											CCCTGGGGGCTGGCGGACCCAG	0.594													15	1125	---	---	---	---					
RABEP2	79874	broad.mit.edu	37	16	28931200	28931202	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr16:28931200_28931202delCTG	ENST00000358201.4	-	3	925_927	c.337_339delCAG	c.(337-339)del	p.Q113del	RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000357573.6_In_Frame_Del_p.Q113del|RABEP2_ENST00000544477.1_In_Frame_Del_p.Q42del	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	113	Poly-Gln.				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CCTCACAGTCCTGCTGCTGCTGC	0.640													7	220	---	---	---	---					
EDC4	23644	broad.mit.edu	37	16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)ccc>cc	p.PS612del		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	612	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611													9	276	---	---	---	---					
NOB1	28987	broad.mit.edu	37	16	69782978	69782980	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr16:69782978_69782980delTCC	ENST00000268802.5	-	6	596_598	c.567_569delGGA	c.(565-570)gaa>ga	p.EE189del		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	189	Poly-Glu.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGTTTTCTTCCTCCTCCTCCT	0.522													8	317	---	---	---	---					
C17orf85	55421	broad.mit.edu	37	17	3721809	3721811	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr17:3721809_3721811delTCC	ENST00000158149.3	-	11	1111_1113	c.216_218delGGA	c.(214-219)gaa>ga	p.EE78del	C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del			Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	358							nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ctcttcctcttcctcctcctcct	0.507													7	321	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579503	7579503	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr17:7579503delC	ENST00000420246.2	-	4	316	c.184delG	c.(184-186)aafs	p.E62fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.E62fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.E62fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	62	Interaction with HRMT1L2.		E -> D (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.E62*(8)|p.E62K(3)|p.G59fs*23(3)|p.E51fs*59(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.D57fs*86(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)		CTGGGAGCTTCATCTGGACCT	0.617		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)			259	603	---	---	---	---					
PPP1R1B	84152	broad.mit.edu	37	17	37785436	37785451	+	Frame_Shift_Del	DEL	GACCAACGCCTGCCAT	GACCAACGCCTGCCAT	-	rs139161053	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr17:37785436_37785451delGACCAACGCCTGCCAT	ENST00000254079.4	+	2	564_579	c.95_110delGACCAACGCCTGCCAT	c.(94-111)agfs	p.RPTPAM32fs	PPP1R1B_ENST00000394265.1_Start_Codon_Del|PPP1R1B_ENST00000394267.2_Start_Codon_Del|PPP1R1B_ENST00000580825.1_Frame_Shift_Del_p.RPTPAM32fs|PPP1R1B_ENST00000579000.1_Frame_Shift_Del_p.RPTPAM32fs	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	32					signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity	p.P33A(1)		kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGGCGCAGGAGACCAACGCCTGCCATGCTGTTCCGG	0.648													20	215	---	---	---	---					
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr18:12986927_12986929delTCC	ENST00000399892.2	+	9	1238_1240	c.1137_1139delTCC	c.(1135-1140)ctt>ct	p.LP379del	SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	0					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522													7	271	---	---	---	---					
KCNG2	26251	broad.mit.edu	37	18	77623691	77623692	+	In_Frame_Ins	INS	-	-	GGC	rs71338073		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr18:77623691_77623692insGGC	ENST00000316249.3	+	1	24_25	c.24_25insGGC	c.(22-27)ccgcgg>ccGGCgcgg	p.8_9PR>PAR		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	8					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.P8_G9insG(2)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCTccccgggcggcggcgg	0.772													6	10	---	---	---	---					
HDGFRP2	0	broad.mit.edu	37	19	4491824	4491824	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:4491824delA	ENST00000301284.4	+	6	734	c.670delA	c.(670-672)aafs	p.K227fs	HDGFRP2_ENST00000586684.1_Frame_Shift_Del_p.K227fs	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		227	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										GGGGGGACGGAAAAAAAAGGT	0.632													7	346	---	---	---	---					
SIGLEC16	400709	broad.mit.edu	37	19	50474857	50474861	+	RNA	DEL	GACGC	GACGC	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:50474857_50474861delGACGC	ENST00000602139.1	+	0	998									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						CAGTCTCCAGGACGCTTCCCTTTGC	0.566													7	247	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085780	11085781	+	RNA	INS	-	-	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr21:11085780_11085781insC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catcaccaccacatcacaatca	0.579													6	8	---	---	---	---					
DGCR5	0	broad.mit.edu	37	22	18976300	18976301	+	RNA	INS	-	-	TATT	rs139950802	by1000genomes	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr22:18976300_18976301insTATT	ENST00000438934.1	+	0	394				DGCR5_ENST00000421572.1_RNA|DGCR5_ENST00000440005.2_RNA																							CTGGCTGGACAtatttatttat	0.381													4	8	---	---	---	---					
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(22-27)acatcg>acTATatcg	p.8_9TS>TIS		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													9	25	---	---	---	---					
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)del	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433													10	257	---	---	---	---					
