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
MPPE1	65258	broad.mit.edu	37	18	11886778	11886778	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr18:11886778C>A	ENST00000399978.2	-	8	1321	c.681G>T	c.(679-681)caG>caT	p.Q227H	MPPE1_ENST00000309976.9_Intron|MPPE1_ENST00000344987.7_Intron|MPPE1_ENST00000317235.7_Intron|MPPE1_ENST00000588072.1_Splice_Site			Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	226					ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						AGCCACGTGCCTGCTGGGTAC	0.632000													25	36					4.4004e-07	5.25776e-07	0.654019	1	0
C7orf34	135927	broad.mit.edu	37	7	142637441	142637441	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr7:142637441C>A	ENST00000409607.3	+	2	252	c.211C>A	c.(211-213)Cag>Aag	p.Q71K		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	46						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					TGTTCCAGACCAGAATCAAGA	0.532000													28	33					4.7796e-09	5.9337e-09	0.681144	1	0
HAND2	9464	broad.mit.edu	37	4	174450181	174450181	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:174450181G>T	ENST00000359562.4	-	1	1199	c.260C>A	c.(259-261)gCc>gAc	p.A87D	HAND2-AS1_ENST00000515310.1_RNA|HAND2-AS1_ENST00000512099.1_RNA|HAND2_ENST00000505300.1_5'UTR	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	87					adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		cgggggcccggcgcccggcgg	0.756000													8	4					0.000442599	0.000478308	0.335167	1	0
CHRM3	1131	broad.mit.edu	37	1	240071510	240071510	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:240071510G>T	ENST00000255380.4	+	5	1538	c.759G>T	c.(757-759)agG>agT	p.R253S		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	253					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TATACTGGAGGATCTATAAGG	0.473000													11	59					3.07112e-06	3.56895e-06	0.387290	1	0
GPLD1	2822	broad.mit.edu	37	6	24437453	24437453	+	Silent	SNP	G	G	A	rs139070208		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:24437453G>A	ENST00000230036.1	-	21	2195	c.2085C>T	c.(2083-2085)taC>taT	p.Y695Y		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	695						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						ATGTGAGTGCGTACATGCGAG	0.582000													9	70					0	0	0.335167	0	0
COL6A6	131873	broad.mit.edu	37	3	130279226	130279226	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:130279226G>T	ENST00000358511.6	+	1	49	c.18G>T	c.(16-18)ttG>ttT	p.L6F	COL6A6_ENST00000453409.2_Missense_Mutation_p.L6F	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	6					axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGCTAATTTTGTTCCTCGTGA	0.279000													9	22					1.76689e-08	2.15155e-08	0.335167	1	0
TPTE	7179	broad.mit.edu	37	21	10914415	10914415	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr21:10914415A>G	ENST00000298232.7	-	20	1617	c.1250T>C	c.(1249-1251)aTa>aCa	p.I417T	TPTE_ENST00000361285.4_Missense_Mutation_p.I435T|TPTE_ENST00000342420.5_Missense_Mutation_p.I397T|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	435	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		CTCCATTTCTATTTGGATTTT	0.318000													7	34					0	0	0.248553	0	0
CHPT1	56994	broad.mit.edu	37	12	102110587	102110587	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr12:102110587T>A	ENST00000549872.1	+	4	835	c.645T>A	c.(643-645)taT>taA	p.Y215*	CHPT1_ENST00000550385.1_3'UTR|CHPT1_ENST00000229266.3_Nonsense_Mutation_p.Y215*			Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	215					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TGTGGGACTATACGGTAAATC	0.308000													3	20					0	0	0.150653	0	0
CPS1	1373	broad.mit.edu	37	2	211452821	211452821	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:211452821G>T	ENST00000233072.5	+	7	857	c.661G>T	c.(661-663)Gta>Tta	p.V221L	CPS1_ENST00000430249.2_Missense_Mutation_p.V227L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	221	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.V221L(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CACAAAAGTGGTAGCTGTAGA	0.408000													13	96					1.05317e-09	1.33682e-09	0.457914	1	0
SPATA17	128153	broad.mit.edu	37	1	217955640	217955640	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:217955640G>T	ENST00000366933.4	+	8	903	c.848G>T	c.(847-849)tGg>tTg	p.W283L	RP11-415L24.1_ENST00000415765.1_RNA	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	283						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AGAGAGGAATGGCTGCAAAAT	0.383000													14	37					1.3612e-06	1.61128e-06	0.479597	1	0
OR10J1	26476	broad.mit.edu	37	1	159409813	159409813	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:159409813C>A	ENST00000423932.3	+	1	302	c.265C>A	c.(265-267)Ctc>Atc	p.L89I	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	89					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					ATTGGTCATTCTCCCAAGAAT	0.458000													14	66					9.31168e-06	1.07232e-05	0.435327	1	0
DNAH3	55567	broad.mit.edu	37	16	21086873	21086873	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr16:21086873G>T	ENST00000261383.3	-	21	2978	c.2979C>A	c.(2977-2979)ccC>ccA	p.P993P	DNAH3_ENST00000415178.1_Silent_p.P993P	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	993	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTGCACCAATGGGCTCCAATC	0.483000													3	57					0.00909568	0.00937186	0.150653	1	0
HSD3B1	3283	broad.mit.edu	37	1	120054195	120054195	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:120054195C>A	ENST00000235547.6	+	3	360	c.221C>A	c.(220-222)gCc>gAc	p.A74D	HSD3B1_ENST00000528909.1_Missense_Mutation_p.A72D|HSD3B1_ENST00000369413.3_Missense_Mutation_p.A72D	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	72					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	CTGAAGAGAGCCTGCCAGGAC	0.488000													27	56					1.26454e-06	1.50035e-06	0.693898	1	0
RBM12	10137	broad.mit.edu	37	20	34241416	34241416	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr20:34241416T>C	ENST00000374114.3	-	3	2092	c.1829A>G	c.(1828-1830)aAt>aGt	p.N610S	CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.N610S|RBM12_ENST00000359646.1_Missense_Mutation_p.N610S|CPNE1_ENST00000397442.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	610						nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TTCTCTCCCATTAAGTTTTTT	0.403000													122	77					0	0	0.870114	0	0
CDH15	1013	broad.mit.edu	37	16	89261522	89261522	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr16:89261522C>G	ENST00000289746.2	+	14	2469	c.2404C>G	c.(2404-2406)Cct>Gct	p.P802A		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	802					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGGTCTTTCTCCTGGGGCACT	0.692000													15	21					0	0	0.520397	0	0
NEURL1	9148	broad.mit.edu	37	10	105331285	105331285	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:105331285G>A	ENST00000369780.4	+	3	764	c.355G>A	c.(355-357)Ggg>Agg	p.G119R	NEURL_ENST00000369777.2_Missense_Mutation_p.G102R	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		119	NHR 1.				nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CTGCTGGAGCGGGGCCCTGCG	0.672000													4	27					0	0	0.150653	0	0
FOXD4L5	653427	broad.mit.edu	37	9	70177755	70177755	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr9:70177755C>A	ENST00000377420.1	-	1	1060	c.229G>T	c.(229-231)Ggc>Tgc	p.G77C		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	77					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|lung(2)	7						GGGCCGCCGCCGCCCTCGATG	0.701000													9	219					0.0581538	0.0592005	0.335167	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28306833	28306833	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr21:28306833G>A	ENST00000284987.5	-	4	1762	c.1641C>T	c.(1639-1641)atC>atT	p.I547I	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	547	Disintegrin.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCTGCAGGCAGATTCTCCCCT	0.517000													31	53					0	0	0.779181	0	0
OR8H2	390151	broad.mit.edu	37	11	55872770	55872770	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:55872770G>A	ENST00000313503.1	+	1	252	c.252G>A	c.(250-252)gcG>gcA	p.A84A		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					AAACCTTAGCGAACTTACTGA	0.438000										HNSCC(53;0.14)			17	396					0	0	0.539581	0	0
FLG2	388698	broad.mit.edu	37	1	152326424	152326424	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:152326424C>T	ENST00000388718.5	-	3	3910	c.3838G>A	c.(3838-3840)Gtg>Atg	p.V1280M	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1280	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTGAGTGCACTTCACTGTCA	0.478000													61	182					0	0	0.870114	0	0
GABRQ	55879	broad.mit.edu	37	X	151817739	151817739	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:151817739C>A	ENST00000370306.2	+	5	573	c.553C>A	c.(553-555)Ctg>Atg	p.L185M		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	185						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTTGTTCCCTGGATCTGCA	0.507000													46	23					2.52991e-16	3.79859e-16	0.870114	1	0
KLHL14	57565	broad.mit.edu	37	18	30267189	30267189	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr18:30267189G>T	ENST00000359358.4	-	5	1605	c.1167C>A	c.(1165-1167)caC>caA	p.H389Q		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	389						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						AATTTGTACTGTGTTTTCCTG	0.363000													63	97					7.37877e-41	1.34616e-40	0.870114	1	0
USH1C	10083	broad.mit.edu	37	11	17519757	17519757	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:17519757G>T	ENST00000005226.7	-	24	2441	c.2442C>A	c.(2440-2442)acC>acA	p.T814T	USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000527720.1_Silent_p.T483T|USH1C_ENST00000318024.4_Silent_p.T514T|USH1C_ENST00000527020.1_Silent_p.T495T	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	514					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CCTCAGCCAGGGTGTAGTCTG	0.577000													21	121					9.57634e-11	1.24984e-10	0.654019	1	0
SCN1A	6323	broad.mit.edu	37	2	166895987	166895987	+	Silent	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:166895987T>A	ENST00000423058.2	-	14	2552	c.2535A>T	c.(2533-2535)gtA>gtT	p.V845V	SCN1A_ENST00000303395.4_Silent_p.V845V|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Silent_p.V817V|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.V834V	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	845						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)	GTCCAAGTTCTACCAGGCTAA	0.358000													7	23					0	0	0.278610	0	0
KCNB2	9312	broad.mit.edu	37	8	73848718	73848718	+	Silent	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:73848718C>A	ENST00000523207.1	+	3	1716	c.1128C>A	c.(1126-1128)acC>acA	p.T376T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	376					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GGTGGGCCACCATCACCATGA	0.448000													51	109					8.94452e-30	1.56992e-29	0.870114	1	0
ZNF536	9745	broad.mit.edu	37	19	30934975	30934975	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:30934975A>G	ENST00000355537.3	+	2	653	c.506A>G	c.(505-507)cAg>cGg	p.Q169R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGGGCGGCGCAGAAGGGGAAC	0.657000													22	15					0	0	0.608945	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72495043	72495043	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:72495043C>G	ENST00000373208.1	+	9	1480	c.1480C>G	c.(1480-1482)Cag>Gag	p.Q494E	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.Q491E	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	491	Disintegrin.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CAGTGGCTACCAGACCTGCTT	0.597000													22	25					0	0	0.681144	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99995212	99995212	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:99995212T>C	ENST00000314594.5	+	9	2408	c.311T>C	c.(310-312)aTg>aCg	p.M104T	R3HCC1L_ENST00000370586.2_Missense_Mutation_p.M94T|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.M688T|R3HCC1L_ENST00000298999.3_Missense_Mutation_p.M688T	NM_001256619.1	NP_001243548.1			R3H domain and coiled-coil containing 1-like																		AAACACACCATGGTGAAGATT	0.448000													16	13					0	0	0.500413	0	0
HRC	3270	broad.mit.edu	37	19	49657521	49657521	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:49657521C>T	ENST00000252825.4	-	1	1160	c.974G>A	c.(973-975)aGa>aAa	p.R325K	HRC_ENST00000595625.1_Missense_Mutation_p.R325K	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	325	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CTCTTCCTTTCTGTGGTCTTG	0.542000													10	33					0	0	0.335167	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885569	24885569	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr14:24885569G>A	ENST00000382554.3	+	9	4932	c.4614G>A	c.(4612-4614)acG>acA	p.T1538T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1538					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TAGTCCCGACGCAACTCCGGA	0.547000													4	15					0	0	0.150653	0	0
COL22A1	169044	broad.mit.edu	37	8	139706771	139706771	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:139706771G>T	ENST00000303045.6	-	34	3126	c.2680C>A	c.(2680-2682)Cag>Aag	p.Q894K	COL22A1_ENST00000435777.1_Missense_Mutation_p.Q894K|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	894	Collagen-like 7.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTGGGTCCCTGAGGCCCCAAT	0.612000										HNSCC(7;0.00092)			9	69					2.80697e-09	3.53651e-09	0.387290	1	0
PPP1R12B	4660	broad.mit.edu	37	1	202462440	202462440	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:202462440G>C	ENST00000406302.3	+	15	2293	c.2140G>C	c.(2140-2142)Gaa>Caa	p.E714Q	PPP1R12B_ENST00000367270.4_5'UTR|PPP1R12B_ENST00000391959.3_5'UTR|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.E714Q	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	714					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GAGTCTGGATGAAGAGGTGAG	0.532000													5	19					0	0	0.184627	0	0
OR5L2	26338	broad.mit.edu	37	11	55595459	55595459	+	Silent	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:55595459C>A	ENST00000378397.1	+	1	765	c.765C>A	c.(763-765)atC>atA	p.I255I		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				ATGGAACAATCCTTTACATTT	0.507000										HNSCC(27;0.073)			48	51					2.76378e-25	4.72069e-25	0.870114	1	0
IRS4	8471	broad.mit.edu	37	X	107978467	107978467	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:107978467C>A	ENST00000372129.2	-	1	1184	c.1108G>T	c.(1108-1110)Ggc>Tgc	p.G370C		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	370						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCAGCCTCCCGGCTCG	0.642000													98	36					2.24395e-52	4.16851e-52	0.870114	1	0
CRHR1	1394	broad.mit.edu	37	17	43893862	43893862	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:43893862G>T	ENST00000314537.5	+	3	380	c.155G>T	c.(154-156)gGc>gTc	p.G52V	CRHR1_ENST00000339069.5_5'UTR|CRHR1_ENST00000398285.3_Missense_Mutation_p.G52V|CRHR1_ENST00000352855.5_Intron|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000577353.1_Missense_Mutation_p.G52V	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	52					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GACCTCATTGGCACCTGCTGG	0.617000													15	38					0.000219431	0.000239166	0.457914	1	0
TM9SF1	10548	broad.mit.edu	37	14	24680654	24680654	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr14:24680654G>A	ENST00000530611.1	-	3	359	c.326C>T	c.(325-327)gCt>gTt	p.A109V	CHMP4A_ENST00000542700.2_5'UTR|TM9SF1_ENST00000556387.1_Missense_Mutation_p.A109V|AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000347519.6_Missense_Mutation_p.A152V			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	0					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		GCTTTGGGCAGCAAGCTCCAT	0.552000													5	23					0	0	0.217242	0	0
KCNT2	343450	broad.mit.edu	37	1	196274387	196274387	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:196274387G>T	ENST00000367433.5	-	21	2601	c.2500C>A	c.(2500-2502)Ctt>Att	p.L834I	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000294725.8_Missense_Mutation_p.L858I|KCNT2_ENST00000367431.4_Missense_Mutation_p.L784I			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	858						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GAAAGAGCAAGAGAGTAACAG	0.338000													10	43					2.17888e-05	2.47004e-05	0.335167	1	0
DCHS2	54798	broad.mit.edu	37	4	155191130	155191130	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:155191130C>A	ENST00000357232.3	-	19	5133	c.5134G>T	c.(5134-5136)Gac>Tac	p.D1712Y		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1712	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGAATTGAGTCAGGAGCAAAA	0.343000													35	45					6.70999e-13	9.46089e-13	0.796494	1	0
OGT	8473	broad.mit.edu	37	X	70783045	70783045	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:70783045C>T	ENST00000373719.3	+	17	2431	c.2214C>T	c.(2212-2214)ggC>ggT	p.G738G	OGT_ENST00000373701.3_Silent_p.G728G	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	738					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TTCTGAATGGCATCGACCTCA	0.353000													29	39					0	0	0.706142	0	0
MAD1L1	8379	broad.mit.edu	37	7	2259031	2259031	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr7:2259031T>A	ENST00000406869.1	-	6	1089	c.532A>T	c.(532-534)Atg>Ttg	p.M178L	MAD1L1_ENST00000265854.7_Missense_Mutation_p.M178L|MAD1L1_ENST00000402746.1_Missense_Mutation_p.M86L|MAD1L1_ENST00000399654.2_Missense_Mutation_p.M178L			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	178					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TTCACCCGCATCTCCTGGTCC	0.627000													5	17					0	0	0.217242	0	0
GAL3ST2	64090	broad.mit.edu	37	2	242738535	242738535	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:242738535G>A	ENST00000192314.6	+	2	216	c.85G>A	c.(85-87)Gga>Aga	p.G29R		NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	29					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CCTGCTGGCCGGATTCCTGCA	0.632000													31	36					0	0	0.760397	0	0
GOLGA2P9	440518	broad.mit.edu	37	19	22784217	22784217	+	RNA	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:22784217C>A	ENST00000600260.1	+	0	651					NR_033899.1																						AGCTGAGCCTCATGGCTCTCC	0.592000													5	6					0.014758	0.0151448	0.184627	1	0
IGSF5	150084	broad.mit.edu	37	21	41137706	41137706	+	Silent	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr21:41137706C>A	ENST00000380588.4	+	3	448	c.345C>A	c.(343-345)ccC>ccA	p.P115P	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	115	Ig-like V-type 1.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				ATGTGGAGCCCAGTGATTCGG	0.557000													15	20					2.31682e-05	2.60899e-05	0.479597	1	0
PNMA5	114824	broad.mit.edu	37	X	152159632	152159632	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:152159632C>A	ENST00000439251.1	-	2	949	c.511G>T	c.(511-513)Ggc>Tgc	p.G171C	PNMA5_ENST00000361887.5_Missense_Mutation_p.G171C|PNMA5_ENST00000535214.1_Missense_Mutation_p.G171C|PNMA5_ENST00000452693.1_Missense_Mutation_p.G171C	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	171					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GTCTCTTCGCCTGGGCTAGGG	0.517000													72	23					3.07281e-33	5.50726e-33	0.870114	1	0
PNLIPRP2	5408	broad.mit.edu	37	10	118383471	118383471	+	RNA	SNP	A	A	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:118383471A>C	ENST00000537242.1	+	0	91				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		AGAGTCTGCTACGGACAACTT	0.498000													3	48					0	0	0.115264	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50660931	50660931	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr22:50660931C>T	ENST00000439308.2	-	14	2853	c.2361G>A	c.(2359-2361)ctG>ctA	p.L787L	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Silent_p.L787L	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	787					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTGCACTCTCCAGTCGGTGCC	0.572000													18	49					0	0	0.520397	0	0
ATP1A2	477	broad.mit.edu	37	1	160105660	160105660	+	Silent	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:160105660C>A	ENST00000361216.3	+	17	2405	c.2316C>A	c.(2314-2316)tcC>tcA	p.S772S	ATP1A2_ENST00000392233.3_Silent_p.S772S|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	772					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGAAGAAATCCATCGCCTACA	0.567000													26	104					1.04121e-07	1.25587e-07	0.693898	1	0
NT5C3A	51251	broad.mit.edu	37	7	33054364	33054364	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr7:33054364G>T	ENST00000396152.2	-	10	1174	c.872C>A	c.(871-873)tCt>tAt	p.S291Y	AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000405342.1_Missense_Mutation_p.S291Y|NT5C3A_ENST00000381626.2_Missense_Mutation_p.S279Y|NT5C3A_ENST00000242210.7_Missense_Mutation_p.S330Y|NT5C3A_ENST00000409467.1_Missense_Mutation_p.S279Y	NM_016489.12	NP_057573.2			5'-nucleotidase, cytosolic IIIA																		CTGTAAAATAGAGTTGGCTAC	0.358000													6	43					0.00307968	0.00320564	0.278610	1	0
SUGP1	57794	broad.mit.edu	37	19	19389578	19389578	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:19389578C>A	ENST00000247001.5	-	11	1903	c.1556G>T	c.(1555-1557)gGc>gTc	p.G519V		NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	519					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						CTTGCCCCGGCCCATCTTTGT	0.597000													11	15					0.000978159	0.00104378	0.387290	1	0
MAGEC3	139081	broad.mit.edu	37	X	140984971	140984971	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:140984971C>A	ENST00000298296.1	+	7	1427	c.1427C>A	c.(1426-1428)cCt>cAt	p.P476H	MAGEC3_ENST00000409007.1_Missense_Mutation_p.P178H|MAGEC3_ENST00000536088.1_Missense_Mutation_p.P178H|MAGEC3_ENST00000443323.2_Missense_Mutation_p.P98H|MAGEC3_ENST00000544766.1_Missense_Mutation_p.P178H	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	476	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ACAAAAGAGCCTGTCACAAAG	0.443000													53	33					2.47907e-22	4.17829e-22	0.870114	1	0
NLRC4	58484	broad.mit.edu	37	2	32476123	32476123	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:32476123G>T	ENST00000404025.2	-	5	1298	c.810C>A	c.(808-810)cgC>cgA	p.R270R	NLRC4_ENST00000360906.5_Silent_p.R270R|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Silent_p.R270R			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	270	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGTTCTTGAAGCGGTGGTTTT	0.512000													13	107					0.0167234	0.0171272	0.435327	1	0
GPR125	166647	broad.mit.edu	37	4	22415367	22415367	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:22415367C>A	ENST00000334304.5	-	13	2149	c.1880G>T	c.(1879-1881)aGa>aTa	p.R627I	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	627					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ATCAGTTGGTCTGAGTTCTCT	0.373000													29	40					1.80694e-10	2.34029e-10	0.740014	1	0
CACNB2	783	broad.mit.edu	37	10	18827288	18827288	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:18827288T>A	ENST00000396576.2	+	12	1818	c.1317T>A	c.(1315-1317)aaT>aaA	p.N439K	CACNB2_ENST00000352115.6_Missense_Mutation_p.N470K|CACNB2_ENST00000377315.4_Missense_Mutation_p.N446K|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377319.3_Missense_Mutation_p.N401K|CACNB2_ENST00000282343.8_Missense_Mutation_p.N466K|CACNB2_ENST00000377328.1_Missense_Mutation_p.N244K|CACNB2_ENST00000324631.7_Missense_Mutation_p.N494K|CACNB2_ENST00000377331.2_Missense_Mutation_p.N442K|CACNB2_ENST00000377329.4_Missense_Mutation_p.N440K	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	494					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TAGCCTCTAATTCACAGGTAA	0.483000													54	160					0	0	0.870114	0	0
PKD1L2	114780	broad.mit.edu	37	16	81155284	81155284	+	RNA	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr16:81155284G>A	ENST00000533478.1	-	0	4573				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000534142.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGTACAGGCGGAGGCTCTGCA	0.602000													3	17					0	0	0.150653	0	0
FAM149A	25854	broad.mit.edu	37	4	187078778	187078778	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:187078778G>A	ENST00000356371.5	+	8	1507	c.1507G>A	c.(1507-1509)Gtt>Att	p.V503I	FAM149A_ENST00000227065.4_Missense_Mutation_p.V212I|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000503432.1_Missense_Mutation_p.V212I|FAM149A_ENST00000389354.5_Missense_Mutation_p.V212I|FAM149A_ENST00000514153.1_Missense_Mutation_p.V212I|FAM149A_ENST00000502970.1_Missense_Mutation_p.V212I			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	503										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GCACGTCCTCGTTCCACACGC	0.547000													14	76					0	0	0.435327	0	0
OR52E2	119678	broad.mit.edu	37	11	5080090	5080090	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:5080090G>T	ENST00000321522.2	-	1	767	c.768C>A	c.(766-768)gcC>gcA	p.A256A		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGGAAAAGAGGGCTGGTGTAT	0.473000													31	41					2.61193e-14	3.80938e-14	0.740014	1	0
SNHG14	104472715	broad.mit.edu	37	15	25430593	25430593	+	RNA	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr15:25430593G>T	ENST00000424208.1	+	0	454					NR_003305.1																						CCTCCAGATGGTGAGCACAGA	0.592000													6	13					3.59834e-05	3.98164e-05	0.217242	1	0
PRAM1	84106	broad.mit.edu	37	19	8563455	8563455	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:8563455C>T	ENST00000423345.4	-	2	1757	c.1237G>A	c.(1237-1239)Gct>Act	p.A413T	PRAM1_ENST00000255612.3_Missense_Mutation_p.A413T			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	461	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GGTGTCCCAGCCGCTCCAAAC	0.716000													9	21					0	0	0.361761	0	0
PVRL1	5818	broad.mit.edu	37	11	119510581	119510581	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:119510581C>A	ENST00000341398.2	-	6	1144	c.1145G>T	c.(1144-1146)gGg>gTg	p.G382V	RP11-196E1.3_ENST00000532153.1_RNA	NM_203285.1	NP_976030.1	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	0					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			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)		TCACCCGGCCCCATCCGTCTC	0.607000													43	37					1.30916e-28	2.28991e-28	0.870114	1	0
ELP4	26610	broad.mit.edu	37	11	31531535	31531535	+	Silent	SNP	A	A	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:31531535A>C	ENST00000395934.2	+	1	211	c.204A>C	c.(202-204)ccA>ccC	p.P68P	ELP4_ENST00000350638.5_Silent_p.P68P|ELP4_ENST00000379163.5_Silent_p.P68P			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	68					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					CCGGGCTCCCAGCCCTAGACC	0.642000													21	36					0	0	0.592651	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386681	56386681	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:56386681C>A	ENST00000355701.3	-	22	4822	c.3952G>T	c.(3952-3954)Gag>Tag	p.E1318*	BZRAP1_ENST00000343736.4_Nonsense_Mutation_p.E1318*|BZRAP1_ENST00000268893.6_Nonsense_Mutation_p.E1258*	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1318						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGGGCAGCTCCAGGATCTGC	0.592000													20	56					1.87028e-06	2.19349e-06	0.608945	1	0
TMPRSS11A	339967	broad.mit.edu	37	4	68784900	68784900	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:68784900G>T	ENST00000508048.1	-	8	775	c.740C>A	c.(739-741)cCt>cAt	p.P247H	TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.P248H|TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.P251H|RP11-453E17.1_ENST00000500538.2_RNA			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	251	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						CATTAAGGGAGGGTTGATTTT	0.368000													31	62					3.86903e-22	6.47808e-22	0.769981	1	0
BPIFB2	80341	broad.mit.edu	37	20	31606157	31606157	+	Splice_Site	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr20:31606157G>A	ENST00000170150.3	+	8	864		c.e8+1			NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2							extracellular region	lipid binding										GGAAGTCAATGTAAGTGCCTC	0.572000													43	14					0	0	0.853193	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106083313	106083313	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:106083313A>G	ENST00000357242.5	+	9	1563	c.1389A>G	c.(1387-1389)atA>atG	p.I463M	TBC1D8B_ENST00000310452.2_Missense_Mutation_p.I463M|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.I457M	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	463						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CATGGAAAATACTGTTTGCAG	0.333000													45	20					0	0	0.864702	0	0
DSC2	1824	broad.mit.edu	37	18	28651738	28651738	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr18:28651738C>T	ENST00000280904.6	-	13	2401	c.1958G>A	c.(1957-1959)aGa>aAa	p.R653K	DSC2_ENST00000251081.6_Missense_Mutation_p.R653K	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	653	Cadherin 5.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AAGTCTATCTCTCACTGTTAT	0.388000													14	30					0	0	0.457914	0	0
ZEB2	9839	broad.mit.edu	37	2	145161562	145161562	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:145161562C>A	ENST00000558170.2	-	6	1912	c.728G>T	c.(727-729)tGc>tTc	p.C243F	ZEB2_ENST00000409487.3_Missense_Mutation_p.C243F|ZEB2_ENST00000303660.4_Missense_Mutation_p.C243F|ZEB2_ENST00000539609.3_Missense_Mutation_p.C219F	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	243						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ACAGAGAGGGCAGGAAAAGTT	0.557000													46	74					4.44401e-20	7.25001e-20	0.853193	1	0
PLXNB3	5365	broad.mit.edu	37	X	153036815	153036815	+	Silent	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:153036815C>A	ENST00000538966.1	+	14	2644	c.2373C>A	c.(2371-2373)acC>acA	p.T791T	PLXNB3_ENST00000538282.1_Silent_p.T378T|PLXNB3_ENST00000538776.1_Silent_p.T421T|PLXNB3_ENST00000361971.5_Silent_p.T768T|PLXNB3_ENST00000538543.1_Intron	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	768					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTACGTCACCCAGGGTGAAG	0.647000													37	15					5.43694e-19	8.72997e-19	0.812448	1	0
FRS3	10817	broad.mit.edu	37	6	41739065	41739065	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:41739065C>A	ENST00000373018.3	-	7	1022	c.771G>T	c.(769-771)caG>caT	p.Q257H	FRS3_ENST00000259748.2_Missense_Mutation_p.Q257H	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	257					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GACAGAGGCCCTGGCACTTCA	0.612000													22	34					3.8784e-16	5.78917e-16	0.608945	1	0
F12	2161	broad.mit.edu	37	5	176830339	176830339	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:176830339G>A	ENST00000253496.3	-	12	1495	c.1447C>T	c.(1447-1449)Cag>Tag	p.Q483*	F12_ENST00000514943.1_5'UTR	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	483	Peptidase S1.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACACCGGCTGAACGTAAGGC	0.706000									Hereditary Angioedema				6	51					0	0	0.217242	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905599	144905599	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:144905599C>T	ENST00000370490.1	+	1	5911	c.1656C>T	c.(1654-1656)atC>atT	p.I552I	SLITRK2_ENST00000434188.2_Silent_p.I552I|SLITRK2_ENST00000428560.2_Silent_p.I552I|SLITRK2_ENST00000447897.2_Silent_p.I552I|SLITRK2_ENST00000413937.2_Silent_p.I552I			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	552	LRRCT 2.					integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCCCTGTCATCATTAATGAGG	0.502000													14	31					0	0	0.457914	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482425	140482425	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:140482425C>A	ENST00000231130.2	+	1	2192	c.2192C>A	c.(2191-2193)cCc>cAc	p.P731H		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		731					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCGAGGGCCCCTTTCCAGGG	0.652000													66	63					1.04318e-46	1.93083e-46	0.870114	1	0
COL18A1	80781	broad.mit.edu	37	21	46875678	46875678	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr21:46875678C>T	ENST00000359759.4	+	1	255	c.234C>T	c.(232-234)ggC>ggT	p.G78G	COL18A1_ENST00000400337.2_Intron|COL18A1_ENST00000355480.5_Silent_p.G78G			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	78					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CAGCCCCTGGCAGCCCTGAGC	0.672000													21	116					0	0	0.575678	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516563	140516563	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:140516563G>T	ENST00000231134.5	+	1	1764	c.1547G>T	c.(1546-1548)aGg>aTg	p.R516M		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		516	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGCCCTCAGGTCGCTGGAC	0.701000													62	99					5.22007e-41	9.55761e-41	0.870114	1	0
TLE2	7089	broad.mit.edu	37	19	3005787	3005787	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:3005787C>A	ENST00000262953.6	-	16	1942	c.1680G>T	c.(1678-1680)aaG>aaT	p.K560N	TLE2_ENST00000590536.1_Missense_Mutation_p.K561N|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000455444.2_Missense_Mutation_p.K438N|TLE2_ENST00000447365.2_Missense_Mutation_p.K227N|TLE2_ENST00000443826.3_Missense_Mutation_p.K438N|TLE2_ENST00000426948.2_Missense_Mutation_p.K574N|TLE2_ENST00000591529.1_Missense_Mutation_p.K574N	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	560					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		AGAAGCAAACCTTGGCGTCGG	0.637000													4	48					0.150653	0.152754	0.150653	1	0
KLHDC7A	127707	broad.mit.edu	37	1	18809713	18809713	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:18809713G>A	ENST00000400664.1	+	1	2290	c.2238G>A	c.(2236-2238)gtG>gtA	p.V746V		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	746						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGTTTGTGCCCAAGGAGC	0.647000													40	93					0	0	0.819951	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222376	140222376	+	Silent	SNP	G	G	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:140222376G>C	ENST00000531613.1	+	1	1470	c.1470G>C	c.(1468-1470)gtG>gtC	p.V490V	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.V490V	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGCTGGTGTCCTACTCGC	0.662000													58	37					0	0	0.870114	0	0
FRMD4A	55691	broad.mit.edu	37	10	13735890	13735890	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:13735890C>A	ENST00000342409.2	-	14	1553	c.1173G>T	c.(1171-1173)caG>caT	p.Q391H	FRMD4A_ENST00000492155.1_5'UTR|FRMD4A_ENST00000357447.2_Intron|FRMD4A_ENST00000358621.4_Intron|FRMD4A_ENST00000378503.1_Intron			Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	375						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CAGCTGGCCTCTGCCTACCTG	0.662000													6	46					0.000157383	0.000171906	0.278610	1	0
OR10Q1	219960	broad.mit.edu	37	11	57995427	57995427	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:57995427C>T	ENST00000316770.2	-	1	963	c.921G>A	c.(919-921)agG>agA	p.R307R		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TAATGGCACTCCTCAGAGCAC	0.502000													24	172					0	0	0.624587	0	0
TTC23	64927	broad.mit.edu	37	15	99678309	99678309	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr15:99678309G>A	ENST00000394132.2	-	14	2067	c.1250C>T	c.(1249-1251)cCa>cTa	p.P417L	TTC23_ENST00000394136.1_Missense_Mutation_p.P417L|TTC23_ENST00000394135.3_Missense_Mutation_p.P417L|TTC23_ENST00000558613.1_Missense_Mutation_p.P417L|TTC23_ENST00000558663.1_Missense_Mutation_p.P417L|TTC23_ENST00000262074.4_Missense_Mutation_p.P417L			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	417							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TGCCTGCCTTGGCTTCGAAGC	0.652000													17	19					0	0	0.539581	0	0
FGA	2243	broad.mit.edu	37	4	155505648	155505648	+	Silent	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:155505648C>G	ENST00000302053.3	-	6	2307	c.2229G>C	c.(2227-2229)cgG>cgC	p.R743R		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	743	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CAGAGCCTACCCGGAAGTGAT	0.522000													69	121					0	0	0.870114	0	0
CROCCP2	84809	broad.mit.edu	37	1	16956702	16956702	+	RNA	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:16956702C>T	ENST00000412962.1	-	0	294																											CACCTACTCTCTTCTGGTTCC	0.642000													4	43					0	0	0.184627	0	0
VPS9D1	9605	broad.mit.edu	37	16	89774285	89774285	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr16:89774285C>T	ENST00000561976.1	-	14	2047	c.1670G>A	c.(1669-1671)gGa>gAa	p.G557E	VPS9D1_ENST00000389386.3_Missense_Mutation_p.G627E					VPS9 domain containing 1																		GGCCAGGCCTCCCCGGGGCAG	0.647000													18	67					0	0	0.539581	0	0
BPTF	2186	broad.mit.edu	37	17	65850718	65850718	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:65850718G>A	ENST00000321892.4	+	2	1337	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	BPTF_ENST00000424123.3_Missense_Mutation_p.E287K|BPTF_ENST00000306378.6_Missense_Mutation_p.E426K|BPTF_ENST00000335221.5_Missense_Mutation_p.E426K			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	426					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGAGGTGCCAGAGGACGAGTG	0.453000													16	155					0	0	0.479597	0	0
PGR	5241	broad.mit.edu	37	11	100933417	100933417	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:100933417T>C	ENST00000325455.5	-	4	3426	c.1973A>G	c.(1972-1974)cAg>cGg	p.Q658R	PGR_ENST00000263463.5_Intron|PGR_ENST00000534013.1_Missense_Mutation_p.Q64R	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	658					cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	GCCCACTGGCTGTGGGAGAGC	0.408000													16	118					0	0	0.479597	0	0
ABCA2	20	broad.mit.edu	37	9	139911474	139911474	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr9:139911474C>A	ENST00000265662.5	-	19	2803	c.2656G>T	c.(2656-2658)Gtg>Ttg	p.V886L	ABCA2_ENST00000341511.6_Missense_Mutation_p.V886L|ABCA2_ENST00000371605.3_Missense_Mutation_p.V885L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	885					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCCCCCTCCACCGGGGACTGG	0.612000													5	73					0.184627	0.18609	0.184627	1	0
ZNF804A	91752	broad.mit.edu	37	2	185801663	185801663	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:185801663G>T	ENST00000302277.6	+	4	2134	c.1540G>T	c.(1540-1542)Gga>Tga	p.G514*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	514						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTATGAAATTGGAAGTAGCAA	0.393000													32	60					9.65021e-13	1.35689e-12	0.750413	1	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819632	159819632	+	RNA	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:159819632G>T	ENST00000497452.1	-	0	517																											TGAACAGTCAGTGCGAATTTG	0.468000													37	106					3.62531e-18	5.60876e-18	0.796494	1	0
ANKRD16	54522	broad.mit.edu	37	10	5929972	5929972	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:5929972C>T	ENST00000380094.5	-	2	916	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	ANKRD16_ENST00000380092.4_Missense_Mutation_p.E125K|ANKRD16_ENST00000191063.8_Missense_Mutation_p.E125K	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	125										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						GCGCCATGTTCCACCAGCTCC	0.557000													43	106					0	0	0.870114	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323771	79323771	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr9:79323771T>C	ENST00000428286.1	-	8	3542	c.2342A>G	c.(2341-2343)gAc>gGc	p.D781G	PRUNE2_ENST00000376718.3_Missense_Mutation_p.D1140G			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1140					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCCACTGCAGTCATCCCAGTC	0.517000													27	95					0	0	0.717897	0	0
PRDM9	56979	broad.mit.edu	37	5	23527510	23527510	+	Silent	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:23527510A>T	ENST00000296682.3	+	11	2495	c.2313A>T	c.(2311-2313)acA>acT	p.T771T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	771					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGACACACACAGGGGAGAAGC	0.577000										HNSCC(3;0.000094)			22	114					0	0	0.654019	0	0
SPAG9	9043	broad.mit.edu	37	17	49197912	49197912	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:49197912C>T	ENST00000262013.7	-	1	314	c.106G>A	c.(106-108)Gag>Aag	p.E36K	SPAG9_ENST00000505279.1_Missense_Mutation_p.E36K|SPAG9_ENST00000357122.4_Missense_Mutation_p.E36K	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	36					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			ATAAGCCGCTCGAACTCGCGG	0.667000													12	21					0	0	0.435327	0	0
NLRP14	338323	broad.mit.edu	37	11	7060056	7060056	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:7060056G>T	ENST00000299481.4	+	2	585	c.239G>T	c.(238-240)gGc>gTc	p.G80V		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	80	DAPIN.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AAAATCTTTGGCAAGATGAAC	0.483000													15	26					2.61681e-11	3.50515e-11	0.457914	1	0
BOD1L1	259282	broad.mit.edu	37	4	13604380	13604380	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:13604380C>A	ENST00000040738.5	-	10	4279	c.4144G>T	c.(4144-4146)Gta>Tta	p.V1382L		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1382							DNA binding										GGCATGATTACCTTTCCTTGT	0.413000													39	61					1.67305e-13	2.4056e-13	0.819951	1	0
PIKFYVE	200576	broad.mit.edu	37	2	209141553	209141553	+	Splice_Site	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:209141553A>T	ENST00000264380.4	+	4	598	c.441_splice	c.e4+1	p.Q147_splice	PIKFYVE_ENST00000407449.1_Splice_Site_p.Q147_splice|PIKFYVE_ENST00000308862.6_Intron|PIKFYVE_ENST00000392202.3_Intron	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	147					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GGGAAAAGCCAGGTACTGTCT	0.443000													8	24					0	0	0.278610	0	0
OR2T1	26696	broad.mit.edu	37	1	248570175	248570175	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:248570175C>G	ENST00000366474.1	+	1	880	c.880C>G	c.(880-882)Cac>Gac	p.H294D		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGCTCATCCCACATGACTGT	0.517000													14	67					0	0	0.457914	0	0
FBXO18	84893	broad.mit.edu	37	10	5948307	5948307	+	Translation_Start_Site	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:5948307A>T	ENST00000397269.3	+	0	634				FBXO18_ENST00000379999.5_Silent_p.P206P|FBXO18_ENST00000362091.4_Silent_p.P155P|FBXO18_ENST00000470089.1_3'UTR	NM_001258452.1	NP_001245381.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18						DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TGTCTGTGCCATGCACAAGGC	0.587000													27	31					0	0	0.681144	0	0
METTL13	51603	broad.mit.edu	37	1	171756994	171756994	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:171756994C>A	ENST00000361735.3	+	4	1499	c.1233C>A	c.(1231-1233)ttC>ttA	p.F411L	METTL13_ENST00000362019.3_Missense_Mutation_p.F325L|METTL13_ENST00000367737.5_Missense_Mutation_p.F255L|METTL13_ENST00000458517.1_Missense_Mutation_p.F410L	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	411							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						AGCGATACTTCCGTCGACTGA	0.547000													5	43					0.184627	0.18609	0.184627	1	0
MN1	4330	broad.mit.edu	37	22	28196322	28196322	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr22:28196322G>T	ENST00000302326.4	-	1	1164	c.210C>A	c.(208-210)ttC>ttA	p.F70L		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	70							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CGCGCGCGTGGAAGCCGTAGG	0.692000			T	ETV6	"""AML, meningioma"""								14	34					9.31168e-06	1.07232e-05	0.435327	1	0
ZFAND4	93550	broad.mit.edu	37	10	46121515	46121515	+	Missense_Mutation	SNP	G	G	A	rs35142284	byFrequency	TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:46121515G>A	ENST00000374366.3	-	8	1999	c.1534C>T	c.(1534-1536)Cgt>Tgt	p.R512C	ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000344646.5_Missense_Mutation_p.R586C			Q86XD8	ANUB1_HUMAN	zinc finger, AN1-type domain 4	586							zinc ion binding										CCTGCCCCACGTGTGCTCTGT	0.463000													41	59					0	0	0.853193	0	0
MED23	9439	broad.mit.edu	37	6	131944574	131944574	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:131944574C>A	ENST00000403834.3	-	5	486	c.313G>T	c.(313-315)Gac>Tac	p.D105Y	MED23_ENST00000540546.1_Missense_Mutation_p.D105Y|MED23_ENST00000368053.4_Missense_Mutation_p.D105Y|MED23_ENST00000368058.1_Missense_Mutation_p.D105Y|MED23_ENST00000368060.3_Missense_Mutation_p.D105Y|MED23_ENST00000354577.4_Missense_Mutation_p.D105Y|MED23_ENST00000368068.3_Missense_Mutation_p.D105Y|MED23_ENST00000539158.1_Missense_Mutation_p.D105Y			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	105					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TCAAGAGTGTCAGAGTTTATC	0.373000													35	40					4.65686e-17	7.07565e-17	0.788014	1	0
CSMD3	114788	broad.mit.edu	37	8	113301716	113301716	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:113301716T>A	ENST00000297405.5	-	57	9270	c.9026A>T	c.(9025-9027)gAg>gTg	p.E3009V	CSMD3_ENST00000455883.2_Missense_Mutation_p.E2840V|CSMD3_ENST00000352409.3_Missense_Mutation_p.E2939V|CSMD3_ENST00000343508.3_Missense_Mutation_p.E2969V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3009	Sushi 21.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGTATACTTCTCGCCAGACAG	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			25	46					0	0	0.654019	0	0
RHOA	387	broad.mit.edu	37	3	49405963	49405963	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:49405963C>T	ENST00000418115.1	-	3	559	c.175G>A	c.(175-177)Gac>Aac	p.D59N	RHOA_ENST00000422781.1_Missense_Mutation_p.D59N|RHOA_ENST00000454011.2_Intron	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	59					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	CCAGCTGTGTCCCACAAAGCC	0.463000													8	48					0	0	0.278610	0	0
MYO3A	53904	broad.mit.edu	37	10	26463048	26463048	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:26463048G>T	ENST00000265944.5	+	30	4021	c.3855G>T	c.(3853-3855)ttG>ttT	p.L1285F	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1285					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAAAAACTTTGGAACCTACAC	0.413000													20	78					3.8784e-16	5.78917e-16	0.608945	1	0
ITGB8	3696	broad.mit.edu	37	7	20403302	20403302	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr7:20403302G>T	ENST00000222573.3	+	2	854	c.170G>T	c.(169-171)aGg>aTg	p.R57M	ITGB8_ENST00000537992.1_5'UTR	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	57					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TCCTGTGCCAGGTGCCTTGCG	0.393000													17	21					1.2644e-06	1.50035e-06	0.592651	1	0
POLR2B	5431	broad.mit.edu	37	4	57889625	57889625	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:57889625G>C	ENST00000381227.1	+	20	3058	c.2645G>C	c.(2644-2646)aGc>aCc	p.S882T	POLR2B_ENST00000441246.2_Missense_Mutation_p.S875T|POLR2B_ENST00000314595.5_Missense_Mutation_p.S882T|POLR2B_ENST00000431623.2_Missense_Mutation_p.S807T			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	882					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 binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GAATTGGAGAGCACCAATAGA	0.438000													13	76					0	0	0.435327	0	0
FLG	2312	broad.mit.edu	37	1	152280365	152280365	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:152280365G>T	ENST00000368799.1	-	3	7032	c.6997C>A	c.(6997-6999)Cac>Aac	p.H2333N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2333	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.H2333N(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGGTGGTGGGATCCGTGT	0.552000									Ichthyosis				140	503					6.47883e-55	1.2124e-54	0.870114	1	0
STX16	8675	broad.mit.edu	37	20	57246287	57246287	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr20:57246287G>T	ENST00000371141.4	+	7	1450	c.726G>T	c.(724-726)caG>caT	p.Q242H	STX16_ENST00000371132.4_Missense_Mutation_p.Q221H|STX16_ENST00000358029.4_Missense_Mutation_p.Q238H|STX16_ENST00000359617.4_Missense_Mutation_p.Q189H|STX16_ENST00000355957.5_Missense_Mutation_p.Q225H|STX16-NPEPL1_ENST00000530122.1_Missense_Mutation_p.Q242H|STX16_ENST00000361770.5_Missense_Mutation_p.Q225H|STX16_ENST00000361830.3_Missense_Mutation_p.Q242H|STX16_ENST00000496003.1_Intron	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	242	t-SNARE coiled-coil homology.				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			AGATTCGCCAGATTGTACAGT	0.478000													49	34					4.64027e-19	7.47435e-19	0.870114	1	0
DGKI	9162	broad.mit.edu	37	7	137341230	137341230	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr7:137341230G>A	ENST00000424189.2	-	4	892	c.663C>T	c.(661-663)tgC>tgT	p.C221C	DGKI_ENST00000446122.1_Silent_p.C221C|DGKI_ENST00000288490.5_Silent_p.C221C|DGKI_ENST00000453654.1_5'UTR			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	221					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GCTGCTCAATGCAGGCGGTGT	0.438000											OREG0018350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	68	68					0	0	0.870114	0	0
DHX57	90957	broad.mit.edu	37	2	39050281	39050281	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:39050281C>T	ENST00000295373.6	-	17	3271	c.3145G>A	c.(3145-3147)Gat>Aat	p.D1049N		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1049							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AATCTTTCATCTGGAGTTAAT	0.458000													15	61					0	0	0.479597	0	0
SKIV2L	6499	broad.mit.edu	37	6	31928518	31928518	+	Splice_Site	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:31928518G>T	ENST00000375394.2	+	6	657		c.e6+1		SKIV2L_ENST00000488648.1_Splice_Site|SKIV2L_ENST00000544581.1_Intron	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)							nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TTTGAGAAAGGTAAGGTGGGG	0.517000													24	43					2.89027e-11	3.86128e-11	0.624587	1	0
ARPP21	10777	broad.mit.edu	37	3	35778828	35778828	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:35778828C>A	ENST00000187397.4	+	16	2074	c.1618C>A	c.(1618-1620)Cag>Aag	p.Q540K	ARPP21_ENST00000444190.1_Missense_Mutation_p.Q486K|ARPP21_ENST00000337271.5_Missense_Mutation_p.Q486K|ARPP21_ENST00000458225.1_Missense_Mutation_p.Q506K|ARPP21_ENST00000417925.1_Missense_Mutation_p.Q506K	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	540	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ACCGCAGCCACAGATGGCAGG	0.647000													7	28					0.00307968	0.00320564	0.278610	1	0
CACNB2	783	broad.mit.edu	37	10	18827284	18827284	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:18827284C>A	ENST00000396576.2	+	12	1814	c.1313C>A	c.(1312-1314)tCt>tAt	p.S438Y	CACNB2_ENST00000352115.6_Missense_Mutation_p.S469Y|CACNB2_ENST00000377315.4_Missense_Mutation_p.S445Y|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377319.3_Missense_Mutation_p.S400Y|CACNB2_ENST00000282343.8_Missense_Mutation_p.S465Y|CACNB2_ENST00000377328.1_Missense_Mutation_p.S243Y|CACNB2_ENST00000324631.7_Missense_Mutation_p.S493Y|CACNB2_ENST00000377331.2_Missense_Mutation_p.S441Y|CACNB2_ENST00000377329.4_Missense_Mutation_p.S439Y	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	493					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ACCCTAGCCTCTAATTCACAG	0.473000													58	167					2.93687e-30	5.17255e-30	0.870114	1	0
HUNK	30811	broad.mit.edu	37	21	33296935	33296935	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr21:33296935C>T	ENST00000270112.2	+	2	777	c.417C>T	c.(415-417)gtC>gtT	p.V139V		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	139	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						ACTACCTGGTCATGGAGCTGT	0.532000													20	115					0	0	0.592651	0	0
PEX5L	51555	broad.mit.edu	37	3	179525601	179525601	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:179525601G>T	ENST00000467460.1	-	14	1867	c.1537C>A	c.(1537-1539)Cgc>Agc	p.R513S	PEX5L_ENST00000263962.8_Missense_Mutation_p.R511S|PEX5L_ENST00000485199.1_Missense_Mutation_p.R478S|PEX5L_ENST00000476138.1_Missense_Mutation_p.R470S|PEX5L_ENST00000472994.1_Missense_Mutation_p.R454S|PEX5L_ENST00000468741.1_Missense_Mutation_p.R321S|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.R489S|PEX5L_ENST00000464614.1_Missense_Mutation_p.R405S|PEX5L_ENST00000392649.3_Missense_Mutation_p.R405S	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	513					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GCCCCGAGGCGGTTCCATAGT	0.522000													30	100					2.85442e-18	4.44311e-18	0.750413	1	0
SNTG1	54212	broad.mit.edu	37	8	51314833	51314833	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:51314833C>A	ENST00000522124.1	+	4	752	c.91C>A	c.(91-93)Cta>Ata	p.L31I	SNTG1_ENST00000276467.5_Missense_Mutation_p.L31I|SNTG1_ENST00000517473.1_Missense_Mutation_p.L31I|SNTG1_ENST00000518864.1_Missense_Mutation_p.L31I	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	31					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GCGGCTGCACCTAGCCAAAGA	0.388000													30	61					1.88708e-17	2.88446e-17	0.729181	1	0
EPHA5	2044	broad.mit.edu	37	4	66361122	66361122	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:66361122G>T	ENST00000273854.3	-	4	1650	c.1050C>A	c.(1048-1050)ccC>ccA	p.P350P	EPHA5_ENST00000511294.1_Silent_p.P350P|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Silent_p.P350P	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	350	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATGCCATTGTGGGTGGATCAG	0.448000										TSP Lung(17;0.13)			31	146					1.62565e-12	2.25464e-12	0.760397	1	0
OTOP1	133060	broad.mit.edu	37	4	4190545	4190545	+	Silent	SNP	G	G	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:4190545G>C	ENST00000296358.4	-	6	1848	c.1824C>G	c.(1822-1824)gtC>gtG	p.V608V		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	608					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCTTACAATAGACCTCAAAGA	0.463000													16	39					0	0	0.557998	0	0
LOC150776	150776	broad.mit.edu	37	2	132277212	132277212	+	RNA	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:132277212C>T	ENST00000438378.2	+	0	2281					NR_026922.1																						AGAACGGACTCATCCTTACGC	0.632000													11	25					0	0	0.361761	0	0
GRID1	2894	broad.mit.edu	37	10	87482766	87482766	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:87482766G>T	ENST00000327946.7	-	12	2076	c.1991C>A	c.(1990-1992)cCc>cAc	p.P664H	GRID1_ENST00000536331.1_Missense_Mutation_p.P235H	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	664						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TTACCTTATGGGGTTGTCCAT	0.532000										Multiple Myeloma(13;0.14)			7	11					1.12685e-05	1.28891e-05	0.307466	1	0
DNPEP	23549	broad.mit.edu	37	2	220247914	220247914	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:220247914C>A	ENST00000273075.4	-	10	1095	c.875G>T	c.(874-876)gGc>gTc	p.G292V	DNPEP_ENST00000373972.1_Missense_Mutation_p.G217V|DNPEP_ENST00000523282.1_Missense_Mutation_p.G300V	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	282					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	GGAGCCAGGGCCTGCACAGGA	0.582000													10	41					3.86212e-05	4.26425e-05	0.361761	1	0
MAP1B	4131	broad.mit.edu	37	5	71495083	71495083	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:71495083C>T	ENST00000296755.7	+	5	6199	c.5901C>T	c.(5899-5901)ccC>ccT	p.P1967P		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1967						microtubule|microtubule associated complex	structural molecule activity	p.P1967P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCAGCCCCCCCGAAGTGAGTG	0.478000													17	114					0	0	0.520397	0	0
F9	2158	broad.mit.edu	37	X	138633376	138633376	+	Silent	SNP	C	C	A	rs137852240		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:138633376C>A	ENST00000218099.2	+	6	683	c.676C>A	c.(676-678)Cgg>Agg	p.R226R	F9_ENST00000394090.2_Silent_p.R188R	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	226		Cleavage; by factor XIa.	R -> G (in HEMB; severe; Madrid).|R -> Q (in HEMB; severe; Hilo and Novara).|R -> W (in HEMB; severe; Nagoya-1, Dernbach, Deventer, Idaho, etc.).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TGACTTCACTCGGGTTGTTGG	0.433000													40	20					6.2361e-21	1.02724e-20	0.834066	1	0
CMYA5	202333	broad.mit.edu	37	5	79026485	79026485	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:79026485G>T	ENST00000446378.2	+	2	1928	c.1897G>T	c.(1897-1899)Gaa>Taa	p.E633*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	633	Glu-rich.					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)		TTTGTCAGAAGAAGAGAATGA	0.468000													37	40					2.20474e-14	3.22474e-14	0.788014	1	0
NAV2	89797	broad.mit.edu	37	11	20066601	20066601	+	Missense_Mutation	SNP	G	G	A	rs146962426		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:20066601G>A	ENST00000396085.1	+	14	3648	c.3287G>A	c.(3286-3288)cGg>cAg	p.R1096Q	NAV2_ENST00000527559.2_Missense_Mutation_p.R1048Q|NAV2_ENST00000533917.1_Missense_Mutation_p.R182Q|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000360655.4_Missense_Mutation_p.R1032Q|NAV2_ENST00000396087.3_Missense_Mutation_p.R1119Q|NAV2_ENST00000311043.8_Missense_Mutation_p.R182Q|NAV2_ENST00000349880.4_Missense_Mutation_p.R1096Q|NAV2_ENST00000540292.1_Missense_Mutation_p.R1050Q	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1119						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GATGCAGGCCGGAGCAGTGGT	0.542000													9	67					0	0	0.411799	0	0
HPSE2	60495	broad.mit.edu	37	10	100995443	100995443	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:100995443G>A	ENST00000370552.3	-	1	176	c.117C>T	c.(115-117)tcC>tcT	p.S39S	HPSE2_ENST00000370549.1_Silent_p.S39S|HPSE2_ENST00000404542.1_Silent_p.S39S|HPSE2_ENST00000370546.1_Silent_p.S39S	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	39					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CTCCAGCCTGGGAGGAAAGGG	0.592000													48	63					0	0	0.859065	0	0
FMN2	56776	broad.mit.edu	37	1	240351543	240351543	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:240351543G>C	ENST00000319653.9	+	4	2197	c.1967G>C	c.(1966-1968)cGc>cCc	p.R656P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	656					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCAAAAACGCTCAGATGCT	0.378000													18	59					0	0	0.592651	0	0
CENPU	79682	broad.mit.edu	37	4	185623263	185623263	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:185623263G>A	ENST00000281453.5	-	10	974	c.904C>T	c.(904-906)Ctg>Ttg	p.L302L	MLF1IP_ENST00000506535.1_5'UTR|MLF1IP_ENST00000541971.1_Silent_p.L302L	NM_024629.3	NP_078905.2	Q71F23	CENPU_HUMAN		302					CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		TTCCTTTTCAGATTTGTCAAC	0.318000													7	16					0	0	0.248553	0	0
MYO3A	53904	broad.mit.edu	37	10	26463005	26463005	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:26463005T>C	ENST00000265944.5	+	30	3978	c.3812T>C	c.(3811-3813)gTg>gCg	p.V1271A	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1271					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGCTACCCAGTGCCTTGGTTA	0.398000													30	55					0	0	0.729181	0	0
VCAN	1462	broad.mit.edu	37	5	82834788	82834788	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:82834788C>A	ENST00000265077.3	+	8	6531	c.5966C>A	c.(5965-5967)cCc>cAc	p.P1989H	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.P1002H|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1989	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TCAGAAGGACCCAGTAGCACC	0.512000													30	43					6.38683e-12	8.71554e-12	0.729181	1	0
TFEC	22797	broad.mit.edu	37	7	115580807	115580807	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr7:115580807G>T	ENST00000265440.7	-	8	1022	c.842C>A	c.(841-843)gCc>gAc	p.A281D	TFEC_ENST00000457268.1_Missense_Mutation_p.A214D|TFEC_ENST00000320239.7_Missense_Mutation_p.A252D|TFEC_ENST00000393485.1_3'UTR	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	281	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			ATCAGAAAAGGCTATAGCTTG	0.438000													57	141					4.1673e-28	7.26424e-28	0.870114	1	0
VWA8	23078	broad.mit.edu	37	13	42263624	42263624	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr13:42263624G>A	ENST00000379310.3	-	34	4065	c.3997C>T	c.(3997-3999)Cat>Tat	p.H1333Y	VWA8_ENST00000478987.1_5'UTR	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		GAAATTTTATGAGGTATGCTG	0.348000													24	26					0	0	0.681144	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887087	9887087	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr18:9887087C>T	ENST00000306084.6	+	2	810	c.611C>T	c.(610-612)cCc>cTc	p.P204L	TXNDC2_ENST00000357775.4_Missense_Mutation_p.P137L|TXNDC2_ENST00000536353.2_Intron	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	204	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						GCCATCCAGCCCAAAGAGGGT	0.577000													89	215					0	0	0.870114	0	0
GRIK1	2897	broad.mit.edu	37	21	30925934	30925934	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr21:30925934C>T	ENST00000399907.1	-	17	3110	c.2699G>A	c.(2698-2700)gGt>gAt	p.G900D	GRIK1_ENST00000535441.1_Intron|GRIK1_ENST00000399909.1_Missense_Mutation_p.G885D|GRIK1_ENST00000327783.4_Intron|GRIK1_ENST00000389125.3_Intron|GRIK1_ENST00000399913.1_Intron|GRIK1_ENST00000399914.1_Intron|GRIK1_ENST00000309434.7_Missense_Mutation_p.G902D|GRIK1_ENST00000389124.2_Intron	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	900					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	AATTAATTTACCACATTCTAA	0.368000													53	66					0	0	0.870114	0	0
SALL1	6299	broad.mit.edu	37	16	51174189	51174189	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr16:51174189G>A	ENST00000440970.1	-	2	2084	c.1653C>T	c.(1651-1653)gaC>gaT	p.D551D	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.D648D|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	648					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CGGGGCCGCAGTCTGCCGCTG	0.622000													25	72					0	0	0.654019	0	0
CHL1	10752	broad.mit.edu	37	3	396435	396435	+	Silent	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:396435C>A	ENST00000256509.2	+	11	1788	c.1146C>A	c.(1144-1146)gtC>gtA	p.V382V	CHL1_ENST00000397491.2_Silent_p.V366V	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	366	Ig-like C2-type 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AGTGGAGAGTCAATGGCTCCC	0.463000													17	49					2.48551e-13	3.54376e-13	0.520397	1	0
FSHR	2492	broad.mit.edu	37	2	49210072	49210072	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:49210072C>G	ENST00000406846.2	-	8	766	c.647G>C	c.(646-648)gGa>gCa	p.G216A	FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000304421.4_Missense_Mutation_p.G190A|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000346173.3_Missense_Mutation_p.G216A	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	216					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TCCAGAGGCTCCGTGGAAAAC	0.428000									Gonadal Dysgenesis, 46 XX				21	31					0	0	0.624587	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33751555	33751555	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:33751555C>A	ENST00000504830.1	-	3	923	c.588G>T	c.(586-588)agG>agT	p.R196S	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000515401.1_Missense_Mutation_p.R196S|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R196S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	196					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTTTCTGCCTCCTGTAAACGA	0.463000										HNSCC(64;0.19)			21	72					4.35082e-09	5.42786e-09	0.592651	1	0
PRKG1	5592	broad.mit.edu	37	10	53564429	53564429	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:53564429A>G	ENST00000373980.4	+	4	1094	c.677A>G	c.(676-678)gAg>gGg	p.E226G	PRKG1_ENST00000401604.2_Missense_Mutation_p.E211G|PRKG1_ENST00000373985.1_Missense_Mutation_p.E199G	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	211					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		AAGCATACCGAGTATATGGAA	0.353000													6	30					0	0	0.278610	0	0
FLT3	2322	broad.mit.edu	37	13	28608088	28608088	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr13:28608088G>A	ENST00000380982.4	-	15	1959	c.1878C>T	c.(1876-1878)aaC>aaT	p.N626N	FLT3_ENST00000537084.1_Silent_p.N626N|FLT3_ENST00000241453.7_Silent_p.N626N			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	626	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	AAGCTGTTGCGTTCATCACTT	0.413000			"""Mis, O"""		"""AML, ALL"""								74	80					0	0	0.870114	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43884979	43884979	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr9:43884979C>A	ENST00000377564.3	+	15	2665	c.2272C>A	c.(2272-2274)Cac>Aac	p.H758N		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	758	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CCAAAAGGAGCACCTCCCAGT	0.438000													4	19					3.59834e-05	3.98164e-05	0.217242	1	0
PADI3	51702	broad.mit.edu	37	1	17597416	17597416	+	Silent	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:17597416C>A	ENST00000375460.3	+	8	914	c.874C>A	c.(874-876)Cga>Aga	p.R292R		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	292					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGTGGTGTTCCGAGTGGCACC	0.622000													17	54					1.67942e-08	2.04993e-08	0.539581	1	0
CYBB	1536	broad.mit.edu	37	X	37653054	37653054	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:37653054G>A	ENST00000378588.4	+	5	541	c.474G>A	c.(472-474)aaG>aaA	p.K158K	CYBB_ENST00000545017.1_Silent_p.K126K|CYBB_ENST00000536160.1_Intron|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	158	Ferric oxidoreductase.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						TTGCTCGAAAGAGAATAAAGG	0.393000													15	15					0	0	0.520397	0	0
SLFN11	91607	broad.mit.edu	37	17	33679476	33679476	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:33679476G>T	ENST00000394566.1	-	7	2877	c.2605C>A	c.(2605-2607)Cat>Aat	p.H869N	SLFN11_ENST00000308377.4_Missense_Mutation_p.H869N	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	869						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTCCTTGGATGGATCCCAAAC	0.493000													90	86					1.90436e-54	3.55061e-54	0.870114	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33624341	33624341	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:33624341C>A	ENST00000504830.1	-	14	2473	c.2138G>T	c.(2137-2139)gGa>gTa	p.G713V	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Intron	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	713	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ATTACCAGATCCTTCCTTCTG	0.443000										HNSCC(64;0.19)			15	84					3.45872e-05	3.88629e-05	0.500413	1	0
KSR2	283455	broad.mit.edu	37	12	117964883	117964883	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr12:117964883G>A	ENST00000425217.1	-	13	1811	c.1757C>T	c.(1756-1758)aCg>aTg	p.T586M	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Missense_Mutation_p.T312M|KSR2_ENST00000339824.5_Missense_Mutation_p.T615M	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	615					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CACCTCCGACGTTGGCTCCAC	0.463000													70	86					0	0	0.870114	0	0
OR2T12	127064	broad.mit.edu	37	1	248458061	248458061	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:248458061C>T	ENST00000317996.1	-	1	819	c.820G>A	c.(820-822)Gcc>Acc	p.A274T		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GTATAGAAGGCTGACACAACC	0.483000													10	142					0	0	0.335167	0	0
AKNAD1	254268	broad.mit.edu	37	1	109369848	109369848	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:109369848G>T	ENST00000370001.3	-	11	2183	c.1915C>A	c.(1915-1917)Cca>Aca	p.P639T	AKNAD1_ENST00000369995.3_Missense_Mutation_p.P639T|AKNAD1_ENST00000357393.4_Missense_Mutation_p.P346T|AKNAD1_ENST00000369994.1_Missense_Mutation_p.P609T	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	639										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCTGAGTGTGGTGCCTTTTCA	0.483000													79	65					3.73172e-31	6.61827e-31	0.870114	1	0
OR52E6	390078	broad.mit.edu	37	11	5862504	5862504	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:5862504C>T	ENST00000329322.5	-	1	623	c.624G>A	c.(622-624)ttG>ttA	p.L208L	OR52E6_ENST00000379946.2_Silent_p.L212L|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCCAATAACAAGAGAGAAA	0.478000													11	34					0	0	0.361761	0	0
HEPH	9843	broad.mit.edu	37	X	65423229	65423229	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:65423229G>T	ENST00000519389.1	+	13	2442	c.2263G>T	c.(2263-2265)Gca>Tca	p.A755S	HEPH_ENST00000441993.2_Missense_Mutation_p.A704S|HEPH_ENST00000343002.2_Missense_Mutation_p.A701S|HEPH_ENST00000419594.1_Missense_Mutation_p.A512S|HEPH_ENST00000374727.3_Missense_Mutation_p.A704S|HEPH_ENST00000336279.5_Missense_Mutation_p.A434S			Q9BQS7	HEPH_HUMAN	hephaestin	701	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TTATTGCCAGGCAGGCAGCCA	0.532000													14	9					8.60227e-14	1.24391e-13	0.500413	1	0
CSRNP3	80034	broad.mit.edu	37	2	166535352	166535352	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:166535352C>T	ENST00000314499.7	+	7	1223	c.847C>T	c.(847-849)Cag>Tag	p.Q283*	CSRNP3_ENST00000409420.1_Nonsense_Mutation_p.Q315*|CSRNP3_ENST00000342316.4_Nonsense_Mutation_p.Q283*	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	283					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AAACCGAGAGCAGCAAATCCC	0.448000													18	39					0	0	0.539581	0	0
OR52R1	119695	broad.mit.edu	37	11	4825094	4825094	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:4825094G>T	ENST00000380382.1	-	1	753	c.754C>A	c.(754-756)Caa>Aaa	p.Q252K	OR52R1_ENST00000356069.2_Missense_Mutation_p.Q173K|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTTGGTGTTGGCAGAAGGGC	0.552000													9	91					0.00829132	0.00859528	0.361761	1	0
HUNK	30811	broad.mit.edu	37	21	33297031	33297031	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr21:33297031C>T	ENST00000270112.2	+	2	873	c.513C>T	c.(511-513)atC>atT	p.I171I		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	171	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GACAGCTCATCTCTGCCGTAG	0.627000													20	130					0	0	0.608945	0	0
PRMT7	54496	broad.mit.edu	37	16	68373273	68373273	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr16:68373273G>T	ENST00000339507.5	+	8	1383	c.553G>T	c.(553-555)Gtg>Ttg	p.V185L	PRMT7_ENST00000449359.3_Missense_Mutation_p.V135L|PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000348497.4_Missense_Mutation_p.V111L|PRMT7_ENST00000441236.1_Missense_Mutation_p.V135L			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	185					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		TGCACAGCTGGTGGAGTCCGG	0.517000													27	50					7.41945e-09	9.16626e-09	0.693898	1	0
FOXP1	27086	broad.mit.edu	37	3	71021723	71021723	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:71021723C>A	ENST00000318789.4	-	18	2160	c.1635G>T	c.(1633-1635)agG>agT	p.R545S	FOXP1_ENST00000491238.1_Missense_Mutation_p.R547S|FOXP1_ENST00000475937.1_Missense_Mutation_p.R545S|FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000484350.1_Missense_Mutation_p.R469S|FOXP1_ENST00000498215.1_Missense_Mutation_p.R545S|FOXP1_ENST00000493089.1_Missense_Mutation_p.R544S	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	545					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TCTTTTGTGGCCTTCGTTTTT	0.433000			T	PAX5	ALL								20	68					0.000229342	0.000249434	0.608945	1	0
NPM2	10361	broad.mit.edu	37	8	21890716	21890716	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:21890716A>T	ENST00000397940.1	+	5	1361	c.346A>T	c.(346-348)Agt>Tgt	p.S116C	NPM2_ENST00000518119.1_Missense_Mutation_p.S116C|NPM2_ENST00000289820.6_Missense_Mutation_p.S116C|NPM2_ENST00000381530.5_Missense_Mutation_p.S116C|NPM2_ENST00000521157.1_Missense_Mutation_p.S116C|NPM2_ENST00000520180.1_3'UTR			Q86SE8	NPM2_HUMAN	nucleophosmin/nucleoplasmin 2	116					chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization	cytoplasmic chromatin|nuclear chromatin	histone binding|nucleic acid binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		CGTGTTCCTCAGTGGCCAGGA	0.577000													16	27					0	0	0.539581	0	0
ZNF284	342909	broad.mit.edu	37	19	44591017	44591017	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:44591017G>A	ENST00000421176.3	+	5	1602	c.1386G>A	c.(1384-1386)aaG>aaA	p.K462K	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				AATGTGGAAAGAGCTTCAGGT	0.433000													33	32					0	0	0.760397	0	0
MKL2	57496	broad.mit.edu	37	16	14311020	14311020	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr16:14311020G>C	ENST00000571589.1	+	7	562	c.390G>C	c.(388-390)atG>atC	p.M130I	MKL2_ENST00000341243.5_Missense_Mutation_p.M119I|MKL2_ENST00000573051.1_Missense_Mutation_p.M79I|MKL2_ENST00000318282.5_Missense_Mutation_p.M130I|MKL2_ENST00000572567.1_Missense_Mutation_p.M119I|MKL2_ENST00000574045.1_Missense_Mutation_p.M130I	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	119					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTACTCAGATGAAGTTGAAAA	0.393000													8	87					0	0	0.278610	0	0
HTR2C	3358	broad.mit.edu	37	X	114082672	114082672	+	Splice_Site	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:114082672G>T	ENST00000371950.3	+	5	1179		c.e5+1		HTR2C_ENST00000276198.1_Silent_p.R152R|HTR2C_ENST00000371951.1_Silent_p.R152R	NM_001256761.1	NP_001243690.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled						cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CGCTGGATCGGTATGTAGCAA	0.423000													55	19					5.57489e-27	9.61905e-27	0.870114	1	0
NLGN1	22871	broad.mit.edu	37	3	173998981	173998981	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:173998981C>G	ENST00000457714.1	+	7	2789	c.2360C>G	c.(2359-2361)aCt>aGt	p.T787S	NLGN1_ENST00000361589.4_Missense_Mutation_p.T787S|NLGN1_ENST00000401917.3_Missense_Mutation_p.T827S|NLGN1_ENST00000545397.1_Missense_Mutation_p.T787S	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	804					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATTCCCAACACTATACCAGGG	0.483000													19	51					0	0	0.592651	0	0
ITPR3	3710	broad.mit.edu	37	6	33644690	33644690	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:33644690C>G	ENST00000374316.5	+	27	4488	c.3428C>G	c.(3427-3429)gCc>gGc	p.A1143G	ITPR3_ENST00000605930.1_Missense_Mutation_p.A1143G			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1143				A -> T (in Ref. 2; AAC50064).	activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GAGGCAGGCGCCGCCAAGGAC	0.632000													6	29					0	0	0.217242	0	0
TMEM81	388730	broad.mit.edu	37	1	205053359	205053359	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:205053359G>A	ENST00000367167.3	-	1	286	c.90C>T	c.(88-90)gcC>gcT	p.A30A		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	30						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TCTCAGGGATGGCCAGTGTTT	0.517000													13	60					0	0	0.457914	0	0
NPAP1	23742	broad.mit.edu	37	15	24921416	24921416	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr15:24921416G>T	ENST00000329468.2	+	1	876	c.402G>T	c.(400-402)gcG>gcT	p.A134A		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GTGAGCCGGCGGTCAAGGCCA	0.632000													12	29					0.00185496	0.00196294	0.435327	1	0
SORCS1	114815	broad.mit.edu	37	10	108923969	108923969	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:108923969C>A	ENST00000263054.6	-	1	323	c.316G>T	c.(316-318)Ggc>Tgc	p.G106C	SORCS1_ENST00000344440.6_Missense_Mutation_p.G106C	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	106						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTCCTCCGGCCGGAGCGTGCA	0.701000													6	26					2.0095e-06	2.34595e-06	0.248553	1	0
SYNE1	23345	broad.mit.edu	37	6	152949442	152949442	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:152949442G>T	ENST00000367255.5	-	3	626	c.25C>A	c.(25-27)Cgg>Agg	p.R9R	SYNE1_ENST00000367253.4_Silent_p.R9R|SYNE1_ENST00000265368.4_Silent_p.R9R|SYNE1_ENST00000423061.1_Silent_p.R9R|SYNE1_ENST00000448038.1_Silent_p.R9R|SYNE1_ENST00000367248.3_Silent_p.R9R|SYNE1_ENST00000413186.2_Silent_p.R9R|SYNE1_ENST00000341594.5_Silent_p.R9R|SYNE1_ENST00000466159.2_Silent_p.R9R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	9	Actin-binding.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CGAGGACACCGGGAGGCCCCT	0.512000										HNSCC(10;0.0054)			32	59					4.62619e-21	7.67013e-21	0.796494	1	0
FAM213A	84293	broad.mit.edu	37	10	82180396	82180396	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:82180396A>G	ENST00000372181.1	+	1	643	c.173A>G	c.(172-174)gAg>gGg	p.E58G	FAM213A_ENST00000372185.1_Missense_Mutation_p.E47G|FAM213A_ENST00000372187.5_Missense_Mutation_p.E58G|FAM213A_ENST00000372188.1_Missense_Mutation_p.E58G	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	CJ058_HUMAN	family with sequence similarity 213, member A	58						extracellular region											AAAACACTGGAGAAGGGTAAG	0.483000													4	42					0	0	0.150653	0	0
CACNA1S	779	broad.mit.edu	37	1	201036050	201036050	+	Silent	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:201036050C>A	ENST00000362061.3	-	20	2848	c.2622G>T	c.(2620-2622)ctG>ctT	p.L874L	CACNA1S_ENST00000367338.3_Silent_p.L874L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	874					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CGGCCACCACCAGCAGGTCCA	0.602000													8	27					0.0381472	0.0389117	0.278610	1	0
SPRY3	10251	broad.mit.edu	37	X	155004046	155004046	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:155004046C>T	ENST00000302805.2	+	2	944	c.513C>T	c.(511-513)aaC>aaT	p.N171N		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	171	Cys-rich.|SPR.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGCTGTGCAACCAGCGCTGCC	0.587000													12	148					0	0	0.435327	0	0
DCDC1	341019	broad.mit.edu	37	11	30914513	30914513	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:30914513G>T	ENST00000597505.1	-	34	4924	c.4925C>A	c.(4924-4926)tCc>tAc	p.S1642Y	DCDC1_ENST00000406071.2_Missense_Mutation_p.S380Y			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ATTTATTTTGGATTCCATTTC	0.393000													27	44					1.5548e-18	2.4654e-18	0.693898	1	0
OR7A17	26333	broad.mit.edu	37	19	14991977	14991977	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:14991977G>T	ENST00000327462.2	-	1	287	c.191C>A	c.(190-192)tCc>tAc	p.S64Y		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					GGACAGGTTGGAGAGGAAGAA	0.502000													33	36					1.836e-18	2.89327e-18	0.788014	1	0
CCDC178	374864	broad.mit.edu	37	18	30926228	30926228	+	Missense_Mutation	SNP	A	A	T	rs148510384		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr18:30926228A>T	ENST00000383096.3	-	9	787	c.605T>A	c.(604-606)aTt>aAt	p.I202N	CCDC178_ENST00000583930.1_Missense_Mutation_p.I202N|CCDC178_ENST00000406524.2_Missense_Mutation_p.I202N|CCDC178_ENST00000579947.1_Missense_Mutation_p.I202N|CCDC178_ENST00000300227.8_Missense_Mutation_p.I202N|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Missense_Mutation_p.I202N|CCDC178_ENST00000403303.1_Missense_Mutation_p.I202N					coiled-coil domain containing 178																		CCAAGAGTCAATTTTCATGTT	0.388000													5	89					0	0	0.184627	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215287	140215287	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:140215287G>T	ENST00000525929.1	+	1	1319	c.1319G>T	c.(1318-1320)aGc>aTc	p.S440I	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.S440I	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)			GCCACTGCTAGCGTGTCCGTG	0.667000													73	71					5.22007e-41	9.55761e-41	0.870114	1	0
BCL11B	64919	broad.mit.edu	37	14	99641437	99641437	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr14:99641437G>T	ENST00000345514.2	-	3	1789	c.1523C>A	c.(1522-1524)gCg>gAg	p.A508E	BCL11B_ENST00000443726.2_Missense_Mutation_p.A385E|BCL11B_ENST00000357195.3_Missense_Mutation_p.A579E	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	579						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		gccgccccccgcgcccgggac	0.721000			T	TLX3	T-ALL								5	8					0.00198382	0.00208199	0.248553	1	0
UMOD	7369	broad.mit.edu	37	16	20355495	20355495	+	Splice_Site	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr16:20355495C>T	ENST00000396134.2	-	7	1405		c.e7-1		UMOD_ENST00000570689.1_Splice_Site|UMOD_ENST00000396138.4_Splice_Site|UMOD_ENST00000424589.1_Splice_Site|UMOD_ENST00000302509.4_Splice_Site|UMOD_ENST00000396142.2_Splice_Site	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin						cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TTTCATTCCTCTGTTGCAGGG	0.507000													8	39					0	0	0.307466	0	0
SEC14L5	9717	broad.mit.edu	37	16	5053500	5053500	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr16:5053500G>T	ENST00000251170.7	+	11	1408	c.1228G>T	c.(1228-1230)Gac>Tac	p.D410Y		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	410	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GGTGGTTGAGGACAATTACCC	0.647000													16	37					1.02788e-11	1.39147e-11	0.520397	1	0
IQGAP2	10788	broad.mit.edu	37	5	75886333	75886333	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:75886333G>A	ENST00000274364.6	+	8	1038	c.741G>A	c.(739-741)gtG>gtA	p.V247V	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	247					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TAACTTTAGTGGATGACAACC	0.378000													28	28					0	0	0.706142	0	0
CRYGC	1420	broad.mit.edu	37	2	208993031	208993031	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:208993031C>T	ENST00000282141.3	-	3	458	c.421G>A	c.(421-423)Ggg>Agg	p.G141R		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	141	Beta/gamma crystallin 'Greek key' 4.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TATTGCCGCCCCCGGTAGTTG	0.632000													26	44					0	0	0.667858	0	0
GABRB3	2562	broad.mit.edu	37	15	26793113	26793113	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr15:26793113C>A	ENST00000541819.2	-	10	1519	c.1417G>T	c.(1417-1419)Ggg>Tgg	p.G473W	GABRB3_ENST00000299267.4_Missense_Mutation_p.G417W|GABRB3_ENST00000311550.5_Missense_Mutation_p.G417W|GABRB3_ENST00000400188.3_Missense_Mutation_p.G346W|GABRB3_ENST00000545868.1_Missense_Mutation_p.G332W			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	417					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CTTCTGTCCCCCAGGAATCGC	0.498000													25	39					9.57634e-11	1.24984e-10	0.654019	1	0
GPR139	124274	broad.mit.edu	37	16	20043068	20043068	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr16:20043068C>T	ENST00000570682.1	-	2	1351	c.1051G>A	c.(1051-1053)Gta>Ata	p.V351I		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	351						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CACGGGGATACTTTTATAGGT	0.463000													21	88					0	0	0.575678	0	0
FAM135B	51059	broad.mit.edu	37	8	139145008	139145008	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:139145008A>T	ENST00000395297.1	-	20	4219	c.4049T>A	c.(4048-4050)cTg>cAg	p.L1350Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1350										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGAGGGCCCAGGAGGTTGTT	0.527000										HNSCC(54;0.14)			59	164					0	0	0.870114	0	0
DNAH8	1769	broad.mit.edu	37	6	38980313	38980313	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:38980313C>T	ENST00000359357.3	+	89	13217	c.12963C>T	c.(12961-12963)ttC>ttT	p.F4321F	DNAH8_ENST00000441566.1_Silent_p.F4285F					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CACTGGGCTTCTGGTTCACTG	0.438000													67	116					0	0	0.870114	0	0
NDNL2	56160	broad.mit.edu	37	15	29561629	29561629	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr15:29561629T>A	ENST00000332303.4	-	1	404	c.281A>T	c.(280-282)cAg>cTg	p.Q94L	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	94	MAGE.				regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CAGCAAGAACTGCACCAGCTC	0.637000													41	36					0	0	0.853193	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801664	185801664	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:185801664G>T	ENST00000302277.6	+	4	2135	c.1541G>T	c.(1540-1542)gGa>gTa	p.G514V		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	514						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TATGAAATTGGAAGTAGCAAA	0.398000													31	58					5.60225e-13	7.92096e-13	0.740014	1	0
FRMPD1	22844	broad.mit.edu	37	9	37740320	37740320	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr9:37740320G>A	ENST00000539465.1	+	15	2388	c.1795G>A	c.(1795-1797)Ggc>Agc	p.G599S	FRMPD1_ENST00000536622.1_Missense_Mutation_p.G421S|FRMPD1_ENST00000377765.3_Missense_Mutation_p.G599S|FRMPD1_ENST00000541302.1_Missense_Mutation_p.G468S|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	599						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TGAGAGCCGCGGCTACAGGAC	0.632000													4	55					0	0	0.150653	0	0
OR2L13	284521	broad.mit.edu	37	1	248263154	248263154	+	Silent	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:248263154A>T	ENST00000366478.2	+	3	814	c.477A>T	c.(475-477)acA>acT	p.T159T	OR2L13_ENST00000358120.2_Silent_p.T159T	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TGGCACACACAGTCTTTGCCC	0.483000													64	139					0	0	0.870114	0	0
KCNK13	56659	broad.mit.edu	37	14	90651091	90651091	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr14:90651091A>T	ENST00000282146.4	+	2	1412	c.971A>T	c.(970-972)aAc>aTc	p.N324I		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	324						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				AACCGCTGCAACATCTCCATA	0.607000													52	48					0	0	0.870114	0	0
C1orf158	93190	broad.mit.edu	37	1	12820814	12820814	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:12820814G>T	ENST00000288048.5	+	4	731	c.515G>T	c.(514-516)tGc>tTc	p.C172F	C1orf158_ENST00000376210.3_Missense_Mutation_p.C134F	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	172										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCGTTGTGCGCTATGTCC	0.577000													31	76					3.99451e-17	6.08744e-17	0.740014	1	0
OR2A25	392138	broad.mit.edu	37	7	143771391	143771391	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr7:143771391T>G	ENST00000408898.2	+	1	117	c.79T>G	c.(79-81)Ttt>Gtt	p.F27V		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GATGCTCCTCTTTGGGCTCTT	0.507000													6	70					0	0	0.217242	0	0
FANCI	55215	broad.mit.edu	37	15	89805064	89805064	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr15:89805064G>T	ENST00000310775.7	+	6	544	c.458G>T	c.(457-459)gGg>gTg	p.G153V	FANCI_ENST00000300027.8_Missense_Mutation_p.G153V|FANCI_ENST00000567996.1_Missense_Mutation_p.G153V|FANCI_ENST00000451393.2_5'UTR	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	153					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GTACTGAGTGGGGAAGAATGT	0.353000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				32	38					3.69857e-22	6.2131e-22	0.729181	1	0
VWF	7450	broad.mit.edu	37	12	6204622	6204622	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr12:6204622C>G	ENST00000572068.1	-	7	1152	c.772G>C	c.(772-774)Ggt>Cgt	p.G258R	VWF_ENST00000261405.5_Intron			P04275	VWF_HUMAN	von Willebrand factor	1055					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAGTCCACACCCACCTTCTGC	0.542000													51	65					0	0	0.870114	0	0
DEFB112	245915	broad.mit.edu	37	6	50011327	50011327	+	Silent	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:50011327T>A	ENST00000322246.4	-	2	302	c.303A>T	c.(301-303)gtA>gtT	p.V101V		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	101					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					CTTGAGTCCCTACTGAGTCCT	0.413000													20	26					0	0	0.592651	0	0
AHNAK	79026	broad.mit.edu	37	11	62300119	62300119	+	Silent	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:62300119T>A	ENST00000378024.4	-	5	2044	c.1770A>T	c.(1768-1770)acA>acT	p.T590T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	590					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTCTGGGGAGTGTGACATCTA	0.512000													27	73					0	0	0.667858	0	0
TCEA1	6917	broad.mit.edu	37	8	54906316	54906316	+	Splice_Site	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:54906316C>T	ENST00000521604.2	-	4	636		c.e4-1		TCEA1_ENST00000396401.3_Splice_Site|TCEA1_ENST00000520534.1_Splice_Site|TCEA1_ENST00000521086.2_Splice_Site|TCEA1_ENST00000522635.1_Intron	NM_006756.2	NP_006747.1	P23193	TCEA1_HUMAN	transcription elongation factor A (SII), 1						positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			GATGGCCCATCTGAAAATTAT	0.368000			T	PLAG1	salivary adenoma								32	75					0	0	0.788014	0	0
SYN3	8224	broad.mit.edu	37	22	32914151	32914151	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr22:32914151T>C	ENST00000358763.2	-	13	1731	c.1489A>G	c.(1489-1491)Aac>Gac	p.N497D	SYN3_ENST00000467095.1_5'UTR|SYN3_ENST00000332840.5_Missense_Mutation_p.N497D	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	497	J; Pro-rich linker.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GAGGCCTGGTTTGGGGAGCTG	0.667000													10	97					0	0	0.435327	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51920599	51920599	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:51920599G>T	ENST00000353836.5	-	2	379	c.158C>A	c.(157-159)tCt>tAt	p.S53Y	SIGLEC10_ENST00000439889.2_Missense_Mutation_p.S53Y|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.S53Y|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.S53Y|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.S53Y|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.S53Y|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.S53Y|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.S53Y|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.S53Y	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	53	Ig-like V-type.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		AGCTGGGGTAGACCCTGTCCA	0.567000													25	25					7.92952e-12	1.07918e-11	0.667858	1	0
SLC8A1	6546	broad.mit.edu	37	2	40656780	40656780	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:40656780G>A	ENST00000406785.1	-	2	830	c.641C>T	c.(640-642)gCc>gTc	p.A214V	SLC8A1_ENST00000542756.1_Missense_Mutation_p.A214V|SLC8A1_ENST00000542024.1_Missense_Mutation_p.A214V|SLC8A1_ENST00000406391.2_Missense_Mutation_p.A214V|SLC8A1_ENST00000405901.3_Missense_Mutation_p.A214V|SLC8A1_ENST00000405269.1_Missense_Mutation_p.A214V|SLC8A1_ENST00000402441.1_Missense_Mutation_p.A214V|SLC8A1_ENST00000403092.1_Missense_Mutation_p.A214V|SLC8A1_ENST00000332839.4_Missense_Mutation_p.A214V|SLC8A1_ENST00000408028.2_Missense_Mutation_p.A214V			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	214					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CCAGGTGTAGGCAAAGATGCT	0.443000													12	45					0	0	0.387290	0	0
DUSP22	56940	broad.mit.edu	37	6	311936	311936	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:311936C>A	ENST00000419235.2	+	3	190	c.112C>A	c.(112-114)Cac>Aac	p.H38N	DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000605863.1_Intron|DUSP22_ENST00000605315.1_Intron|DUSP22_ENST00000603453.1_Intron|DUSP22_ENST00000344450.5_Missense_Mutation_p.H38N			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	38					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TCTGTCTGTCCACGATAGTGC	0.488000													5	45					3.59834e-05	3.98164e-05	0.217242	1	0
GABRR2	2570	broad.mit.edu	37	6	89975446	89975446	+	Missense_Mutation	SNP	G	G	T	rs76786334	byFrequency	TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:89975446G>T	ENST00000402938.3	-	7	908	c.775C>A	c.(775-777)Cgc>Agc	p.R259S	GABRR2_ENST00000602399.1_Missense_Mutation_p.R284S			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	284					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		AAGATGTGGCGACGCAACGTG	0.522000													13	30					4.36969e-10	5.60245e-10	0.435327	1	0
WNT10A	80326	broad.mit.edu	37	2	219757817	219757817	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:219757817C>A	ENST00000258411.3	+	4	1711	c.1078C>A	c.(1078-1080)Cgc>Agc	p.R360S		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	360			R -> C (found in a patient with unclassified form of ectodermal dysplasia).		anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCGTGGGCCGCCTGTGCAA	0.726000													15	15					5.03518e-11	6.69167e-11	0.557998	1	0
DCAF8	50717	broad.mit.edu	37	1	160187467	160187467	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:160187467T>C	ENST00000368073.3	-	14	2143	c.1709A>G	c.(1708-1710)gAc>gGc	p.D570G	DCAF8_ENST00000461888.1_5'UTR|DCAF8_ENST00000556710.1_Missense_Mutation_p.D724G|DCAF8_ENST00000368074.1_Missense_Mutation_p.D570G|DCAF8_ENST00000326837.2_Missense_Mutation_p.D570G			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	570						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						AGAGTCCGCGTCTGTGGCCCC	0.587000													9	53					0	0	0.387290	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370615	35370615	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:35370615G>T	ENST00000373347.1	-	3	638	c.370C>A	c.(370-372)Cag>Aag	p.Q124K	DLGAP3_ENST00000235180.4_Missense_Mutation_p.Q124K			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	124					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TTTTCAAACTGATCCAGGAGT	0.642000													9	13					2.17888e-05	2.47004e-05	0.335167	1	0
PTMA	5757	broad.mit.edu	37	2	232577179	232577179	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:232577179G>T	ENST00000409115.3	+	4	436	c.238G>T	c.(238-240)Gag>Tag	p.E80*	PTMA_ENST00000466801.1_3'UTR|PTMA_ENST00000409683.1_Nonsense_Mutation_p.E77*|PTMA_ENST00000410064.1_Nonsense_Mutation_p.E106*|PTMA_ENST00000341369.7_Nonsense_Mutation_p.E81*|PTMA_ENST00000409321.1_Nonsense_Mutation_p.E101*	NM_002823.4	NP_002814.3	P06454	PTMA_HUMAN	prothymosin, alpha	81	Asp/Glu-rich (acidic).				transcription, DNA-dependent	nucleus				lung(3)|ovary(1)|prostate(1)|skin(1)	6		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		AGATGAAGATGAGGAAGCTGA	0.557000													14	19					1.62849e-17	2.49669e-17	0.500413	1	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158542	26158542	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:26158542G>T	ENST00000289316.2	+	1	169	c.145G>T	c.(145-147)Gtc>Ttc	p.V49F	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.V49F	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	49					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						GCTGAAGCAGGTCCATCCCGA	0.567000													24	223					7.01153e-11	9.19812e-11	0.717897	1	0
RFPL3	10738	broad.mit.edu	37	22	32754369	32754369	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr22:32754369A>G	ENST00000249007.4	+	1	516	c.311A>G	c.(310-312)aAg>aGg	p.K104R	RFPL3_ENST00000382088.3_Missense_Mutation_p.K75R|RFPL3_ENST00000397468.1_Missense_Mutation_p.K75R	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	104							zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						TCCCACATCAAGGAACTGGAG	0.522000													21	88					0	0	0.575678	0	0
MMRN1	22915	broad.mit.edu	37	4	90874233	90874233	+	Silent	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:90874233C>A	ENST00000394980.1	+	9	3670	c.3351C>A	c.(3349-3351)atC>atA	p.I1117I	MMRN1_ENST00000264790.2_Silent_p.I1117I|MMRN1_ENST00000394981.1_Silent_p.I420I|MMRN1_ENST00000508372.1_Silent_p.I859I			Q13201	MMRN1_HUMAN	multimerin 1	1117	C1q.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CTGGTCCTATCCTGTTTAATA	0.363000													18	88					3.41278e-10	4.38663e-10	0.520397	1	0
RELN	5649	broad.mit.edu	37	7	103191515	103191515	+	Splice_Site	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr7:103191515C>T	ENST00000428762.1	-	41	6460	c.6302_splice	c.e41+1	p.G2101_splice	RELN_ENST00000343529.5_Splice_Site_p.G2101_splice|RELN_ENST00000424685.2_Splice_Site_p.G2101_splice	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2101					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGTCCTTACCCACAAAGGTGC	0.527000													12	14					0	0	0.411799	0	0
CYP2S1	29785	broad.mit.edu	37	19	41704752	41704752	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:41704752G>A	ENST00000310054.4	+	5	1009	c.793G>A	c.(793-795)Gca>Aca	p.A265T	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	265					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity	p.A265T(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						TTCGGGCCCCGCACGTGACCT	0.647000													5	50					0	0	0.217242	0	0
ATP10D	57205	broad.mit.edu	37	4	47537986	47537986	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:47537986A>T	ENST00000273859.3	+	7	1220	c.951A>T	c.(949-951)agA>agT	p.R317S	ATP10D_ENST00000504445.1_Missense_Mutation_p.R317S	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	317					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TAGAAAGAAGAGCAAACACAG	0.413000													34	55					0	0	0.804634	0	0
PAPPA	5069	broad.mit.edu	37	9	119124912	119124912	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr9:119124912C>T	ENST00000328252.3	+	18	4758	c.4389C>T	c.(4387-4389)acC>acT	p.T1463T	PAPPA_ENST00000534838.1_Silent_p.T501T	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1463	Sushi 4.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AAGATGGCACCTGGAACGGCT	0.522000													6	72					0	0	0.248553	0	0
MAD1L1	8379	broad.mit.edu	37	7	1855719	1855719	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr7:1855719T>C	ENST00000406869.1	-	19	2701	c.2144A>G	c.(2143-2145)cAg>cGg	p.Q715R	MAD1L1_ENST00000265854.7_Missense_Mutation_p.Q715R|MAD1L1_ENST00000402746.1_Missense_Mutation_p.Q623R|MAD1L1_ENST00000399654.2_Missense_Mutation_p.Q715R			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	715					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CGCCACGGTCTGGCGGCTGAA	0.687000													9	40					0	0	0.335167	0	0
EMR1	2015	broad.mit.edu	37	19	6896442	6896442	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:6896442C>G	ENST00000312053.4	+	3	165	c.128C>G	c.(127-129)gCt>gGt	p.A43G	EMR1_ENST00000381404.4_Missense_Mutation_p.A43G|EMR1_ENST00000381407.5_Missense_Mutation_p.A43G|EMR1_ENST00000450315.3_Missense_Mutation_p.A43G|EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000250572.8_Missense_Mutation_p.A43G	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	43	EGF-like 1.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TTGTGCCCAGCTTATGCCACC	0.458000													60	59					0	0	0.870114	0	0
TYR	7299	broad.mit.edu	37	11	89028428	89028428	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:89028428T>A	ENST00000263321.5	+	5	1986	c.1484T>A	c.(1483-1485)cTt>cAt	p.L495H		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	495				L -> P (in Ref. 2; AAA61241/AAA61244).	eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CTGGCAGGGCTTGTGAGCTTG	0.537000													14	33					0	0	0.500413	0	0
HUNK	30811	broad.mit.edu	37	21	33296887	33296887	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr21:33296887C>T	ENST00000270112.2	+	2	729	c.369C>T	c.(367-369)atC>atT	p.I123I		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	123	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	p.I123I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						ACCCCAATATCACTCAGCTCC	0.478000													10	70					0	0	0.411799	0	0
NOL4	8715	broad.mit.edu	37	18	31538225	31538225	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr18:31538225G>T	ENST00000261592.5	-	7	1511	c.1214C>A	c.(1213-1215)gCc>gAc	p.A405D	NOL4_ENST00000589544.1_Missense_Mutation_p.A405D|NOL4_ENST00000535384.1_Missense_Mutation_p.A120D|NOL4_ENST00000535475.1_Missense_Mutation_p.A250D|NOL4_ENST00000269185.4_Missense_Mutation_p.A291D|NOL4_ENST00000538587.1_Missense_Mutation_p.A331D	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	405						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CAGCCGCTCGGCTTCAACGCC	0.473000													69	68					1.55545e-33	2.79761e-33	0.870114	1	0
HR	55806	broad.mit.edu	37	8	21978725	21978725	+	Silent	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:21978725A>T	ENST00000381418.4	-	10	3700	c.2220T>A	c.(2218-2220)gcT>gcA	p.A740A	HR_ENST00000312841.8_Silent_p.A740A	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	740							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CTGGGGTCTCAGCGGAATCGG	0.642000													42	47					0	0	0.840704	0	0
PCDH15	65217	broad.mit.edu	37	10	55849811	55849811	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:55849811C>T	ENST00000373965.2	-	17	2345	c.1951G>A	c.(1951-1953)Gag>Aag	p.E651K	PCDH15_ENST00000409834.1_Missense_Mutation_p.E255K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E622K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E607K|PCDH15_ENST00000395446.1_Missense_Mutation_p.E644K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E651K|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.E644K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E644K|PCDH15_ENST00000373955.1_Missense_Mutation_p.E644K|PCDH15_ENST00000373957.3_Missense_Mutation_p.E622K|PCDH15_ENST00000320301.6_Missense_Mutation_p.E644K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.E649K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E644K|PCDH15_ENST00000395442.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	644	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GAGTCTCCCTCTCGATCAGTT	0.328000										HNSCC(58;0.16)			16	36					0	0	0.520397	0	0
C9orf171	389799	broad.mit.edu	37	9	135374887	135374887	+	Missense_Mutation	SNP	C	C	A	rs143736165		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr9:135374887C>A	ENST00000343036.2	+	4	580	c.532C>A	c.(532-534)Cgt>Agt	p.R178S	C9orf171_ENST00000393215.3_Missense_Mutation_p.R142S|C9orf171_ENST00000393216.2_Missense_Mutation_p.R142S	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	178										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CTTGCTCTACCGTCAGCTCAA	0.612000													50	68					1.54886e-18	2.46366e-18	0.870114	1	0
SPATA31D1	389763	broad.mit.edu	37	9	84606718	84606718	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr9:84606718A>T	ENST00000344803.2	+	4	1380	c.1333A>T	c.(1333-1335)Aac>Tac	p.N445Y		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		ACTTAGGCCAAACTACCAACT	0.413000													7	69					0	0	0.307466	0	0
AKR1B15	441282	broad.mit.edu	37	7	134250297	134250297	+	Splice_Site	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr7:134250297G>T	ENST00000423958.1	+	1	65	c.66_splice	c.e1+1	p.R22_splice	AKR1B15_ENST00000457545.2_Intron			C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	0							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						GGCACTTGGAGGGTAAATATG	0.498000													15	19					1.05317e-09	1.33682e-09	0.457914	1	0
SLC9B2	133308	broad.mit.edu	37	4	103979105	103979105	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:103979105C>A	ENST00000394785.3	-	4	926	c.295G>T	c.(295-297)Gct>Tct	p.A99S	SLC9B2_ENST00000362026.3_Missense_Mutation_p.A99S|SLC9B2_ENST00000503230.1_Intron|SLC9B2_ENST00000339611.4_Missense_Mutation_p.A99S|SLC9B2_ENST00000503103.1_Intron	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	99					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										CAAACTACAGCCCACAGAAGA	0.343000													57	111					9.40535e-28	1.6339e-27	0.870114	1	0
CPSF7	79869	broad.mit.edu	37	11	61178472	61178472	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:61178472T>A	ENST00000340437.4	-	9	1568	c.1488A>T	c.(1486-1488)caA>caT	p.Q496H	CPSF7_ENST00000448745.1_Missense_Mutation_p.Q444H|CPSF7_ENST00000394888.4_Missense_Mutation_p.Q453H|CPSF7_ENST00000439958.3_Missense_Mutation_p.Q444H	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	453					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGTTCCTTTCTTGGAAATAAT	0.577000													14	210					0	0	0.520397	0	0
SULT2A1	6822	broad.mit.edu	37	19	48382314	48382314	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:48382314C>T	ENST00000222002.3	-	4	685	c.546G>A	c.(544-546)ctG>ctA	p.L182L		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	182					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		CCTCATAACTCAGTAACAGGA	0.463000													39	110					0	0	0.840704	0	0
MVP	9961	broad.mit.edu	37	16	29845347	29845347	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr16:29845347C>T	ENST00000357402.5	+	5	675	c.537C>T	c.(535-537)cgC>cgT	p.R179R	MVP_ENST00000452209.2_Intron|MVP_ENST00000395353.1_Silent_p.R179R	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	179					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						TCAGGGCCCGCAAGGAGTGCT	0.657000													12	53					0	0	0.387290	0	0
PITPNM3	83394	broad.mit.edu	37	17	6386998	6386998	+	Silent	SNP	C	C	A	rs145663997	byFrequency	TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:6386998C>A	ENST00000262483.8	-	6	513	c.426G>T	c.(424-426)acG>acT	p.T142T	ACKR6_ENST00000421306.3_Silent_p.T106T	NM_031220.3	NP_112497.2																					CCCCGGCACCCGTGTCCAGGA	0.632000													35	38					1.60099e-16	2.41095e-16	0.804634	1	0
HUNK	30811	broad.mit.edu	37	21	33296872	33296872	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr21:33296872C>T	ENST00000270112.2	+	2	714	c.354C>T	c.(352-354)atC>atT	p.I118I		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	118	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						AGCAGATGATCCGCCACCCCA	0.493000													8	64					0	0	0.361761	0	0
RHO	6010	broad.mit.edu	37	3	129251193	129251193	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:129251193C>T	ENST00000296271.3	+	3	724	c.630C>T	c.(628-630)gtC>gtT	p.V210V		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	210	Retinal chromophore binding (By similarity).				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	TGTTCGTGGTCCACTTCACCA	0.567000													22	67					0	0	0.608945	0	0
KRTAP6-3	337968	broad.mit.edu	37	21	31964873	31964873	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr21:31964873T>A	ENST00000391624.1	+	1	115	c.88T>A	c.(88-90)Tgt>Agt	p.C30S		NM_181605.3	NP_853636.3			keratin associated protein 6-3											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						ttatggcggctgtggctatgg	0.592000													18	66					0	0	0.557998	0	0
INSM2	84684	broad.mit.edu	37	14	36005115	36005115	+	Silent	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr14:36005115C>A	ENST00000307169.3	+	1	1868	c.1657C>A	c.(1657-1659)Cgg>Agg	p.R553R		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		CTCAGAAAGCCGGCAAGTGCT	0.562000													32	40					2.68265e-12	3.68051e-12	0.769981	1	0
TRANK1	9881	broad.mit.edu	37	3	36874113	36874113	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:36874113G>C	ENST00000301807.6	-	21	7076	c.5179C>G	c.(5179-5181)Cgc>Ggc	p.R1727G	TRANK1_ENST00000429976.2_Missense_Mutation_p.R2277G|TRANK1_ENST00000428977.2_Missense_Mutation_p.R1727G	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2277					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CGGCGGTTGCGTGCGCTTTCA	0.478000													18	32					0	0	0.520397	0	0
KIF21B	23046	broad.mit.edu	37	1	200967643	200967643	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:200967643A>T	ENST00000332129.2	-	14	2262	c.1946T>A	c.(1945-1947)cTg>cAg	p.L649Q	KIF21B_ENST00000360529.5_Missense_Mutation_p.L649Q|KIF21B_ENST00000422435.2_Missense_Mutation_p.L649Q|KIF21B_ENST00000461742.2_Missense_Mutation_p.L649Q	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	649					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTCGTCGATCAGCTTCTGCTT	0.562000													8	67					0	0	0.307466	0	0
ABCG2	9429	broad.mit.edu	37	4	89013502	89013502	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:89013502C>T	ENST00000237612.3	-	16	2397	c.1852G>A	c.(1852-1854)Ggc>Agc	p.G618S	ABCG2_ENST00000515655.1_3'UTR	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	618	ABC transmembrane type-2.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	AGATCGATGCCCTGCTTTACC	0.393000													26	38					0	0	0.706142	0	0
SOX11	6664	broad.mit.edu	37	2	5833565	5833565	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:5833565C>A	ENST00000322002.3	+	1	767	c.712C>A	c.(712-714)Cag>Aag	p.Q238K		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	238					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		GCTGCAGCTGCAGATCAAACA	0.677000													7	3					0.00307968	0.00320564	0.278610	1	0
NLRP14	338323	broad.mit.edu	37	11	7060055	7060055	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:7060055G>T	ENST00000299481.4	+	2	584	c.238G>T	c.(238-240)Ggc>Tgc	p.G80C		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	80	DAPIN.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CAAAATCTTTGGCAAGATGAA	0.483000													15	26					6.72482e-11	8.84479e-11	0.479597	1	0
CPZ	8532	broad.mit.edu	37	4	8605750	8605750	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:8605750T>G	ENST00000382480.2	+	4	933	c.133T>G	c.(133-135)Ttc>Gtc	p.F45V	CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.F171V|CPZ_ENST00000360986.4_Missense_Mutation_p.F182V	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	182	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCCGCCCACCTTCATCCGCTT	0.701000													8	36					0	0	0.361761	0	0
FLT4	2324	broad.mit.edu	37	5	180057745	180057745	+	Silent	SNP	G	G	T	rs142234456		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:180057745G>T	ENST00000261937.6	-	3	288	c.210C>A	c.(208-210)acC>acA	p.T70T	FLT4_ENST00000502649.1_Silent_p.T70T|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Silent_p.T70T	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	70	Ig-like C2-type 1.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCTTGTCTCCGGTGGCTGGCG	0.677000													24	32					9.86323e-18	1.52133e-17	0.667858	1	0
ADAM29	11086	broad.mit.edu	37	4	175898055	175898055	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:175898055A>T	ENST00000359240.3	+	5	2049	c.1379A>T	c.(1378-1380)aAt>aTt	p.N460I	ADAM29_ENST00000404450.4_Missense_Mutation_p.N460I|ADAM29_ENST00000514159.1_Missense_Mutation_p.N460I|ADAM29_ENST00000445694.1_Missense_Mutation_p.N460I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	460	Disintegrin.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAGGAGGTCAATGAATGTGAT	0.453000													49	76					0	0	0.870114	0	0
SDK2	54549	broad.mit.edu	37	17	71354288	71354288	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:71354288G>A	ENST00000392650.3	-	40	5523	c.5523C>T	c.(5521-5523)gcC>gcT	p.A1841A	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Silent_p.A1822A	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1841	Fibronectin type-III 13.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACCAGTGAATGGCGATGGCAG	0.657000													24	229					0	0	0.654019	0	0
MUC6	4588	broad.mit.edu	37	11	1028698	1028698	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:1028698G>T	ENST00000421673.2	-	13	1589	c.1539C>A	c.(1537-1539)ccC>ccA	p.P513P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	513	VWFD 2.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTGGAAGATGGGGCGCAGCT	0.632000													14	15					1.5842e-08	1.94303e-08	0.435327	1	0
CCDC74A	90557	broad.mit.edu	37	2	132290207	132290207	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:132290207G>T	ENST00000295171.6	+	5	867	c.729G>T	c.(727-729)ggG>ggT	p.G243G	CCDC74A_ENST00000409856.3_Silent_p.G177G|CCDC74A_ENST00000467992.2_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	243										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CCTGTATGGGGAACAGCCAGC	0.612000													44	76					1.15183e-24	1.95428e-24	0.847076	1	0
CPXM2	119587	broad.mit.edu	37	10	125526576	125526576	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:125526576C>A	ENST00000241305.3	-	10	1546	c.1392G>T	c.(1390-1392)tgG>tgT	p.W464C	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	464					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCTCTGCCTCCCAGAGCAGCG	0.517000													25	27					1.55469e-16	2.34819e-16	0.654019	1	0
CDH7	1005	broad.mit.edu	37	18	63430201	63430201	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr18:63430201G>T	ENST00000536984.2	+	2	817	c.123G>T	c.(121-123)ggG>ggT	p.G41G	CDH7_ENST00000323011.3_Silent_p.G41G|CDH7_ENST00000397968.2_Silent_p.G41G			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	41					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TCCAATCAGGGAGGTCCCGGA	0.488000													7	48					2.0095e-06	2.34595e-06	0.248553	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33576991	33576991	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:33576991G>A	ENST00000504830.1	-	19	3475	c.3140C>T	c.(3139-3141)gCa>gTa	p.A1047V	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.A962V	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1047	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A1047E(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCTGCTGATTGCTGGAGTGCT	0.552000										HNSCC(64;0.19)			4	52					0	0	0.150653	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135890497	135890497	+	Silent	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:135890497A>T	ENST00000264158.8	+	14	1312	c.1269A>T	c.(1267-1269)ccA>ccT	p.P423P	RAB3GAP1_ENST00000539493.1_Silent_p.P379P|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Silent_p.P423P	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	423						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		CTGAGAAACCATTAGATGGAA	0.313000													22	25					0	0	0.667858	0	0
CAGE1	285782	broad.mit.edu	37	6	7365746	7365746	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:7365746G>T	ENST00000502583.1	-	9	2712	c.2148C>A	c.(2146-2148)gcC>gcA	p.A716A	CAGE1_ENST00000379918.4_Silent_p.A694A|CAGE1_ENST00000338150.4_Silent_p.A716A|CAGE1_ENST00000512086.1_Silent_p.A689A|CAGE1_ENST00000296742.7_Silent_p.A553A	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	689										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					TATCCAGTTTGGCTCCCAGAA	0.343000													12	22					1.5842e-08	1.94303e-08	0.435327	1	0
PTPN5	84867	broad.mit.edu	37	11	18759452	18759452	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:18759452C>G	ENST00000396170.1	-	9	2143	c.879G>C	c.(877-879)aaG>aaC	p.K293N	PTPN5_ENST00000396168.1_Missense_Mutation_p.K301N|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396167.2_Missense_Mutation_p.K293N|PTPN5_ENST00000477854.1_Missense_Mutation_p.K129N|PTPN5_ENST00000358540.2_Missense_Mutation_p.K325N|PTPN5_ENST00000396171.4_Missense_Mutation_p.K325N	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	325						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TGTACCGGTTCTTCCGCACCA	0.582000													11	48					0	0	0.387290	0	0
NLGN2	57555	broad.mit.edu	37	17	7319398	7319398	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:7319398A>G	ENST00000302926.2	+	6	1679	c.1606A>G	c.(1606-1608)Acc>Gcc	p.T536A	NLGN2_ENST00000575301.1_Missense_Mutation_p.T536A	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	536					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CGTGGTCATGACCTACTGGAC	0.617000													3	53					0	0	0.115264	0	0
NCAN	1463	broad.mit.edu	37	19	19337293	19337293	+	Splice_Site	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:19337293A>T	ENST00000252575.5	+	7	1115		c.e7-1			NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan						axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TTTCTCCCACAGCTCATCACC	0.557000													38	49					0	0	0.812448	0	0
TRBC2	28638	broad.mit.edu	37	7	142499062	142499062	+	RNA	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr7:142499062G>A	ENST00000466254.1	+	0	338																											CCCAGGATAGGGCCAAACCTG	0.617000													37	98					0	0	0.834066	0	0
NTRK3	4916	broad.mit.edu	37	15	88678565	88678565	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr15:88678565A>G	ENST00000394480.1	-	10	1292	c.971T>C	c.(970-972)gTg>gCg	p.V324A	NTRK3_ENST00000317501.3_Missense_Mutation_p.V324A|NTRK3_ENST00000558676.1_Missense_Mutation_p.V324A|NTRK3_ENST00000540489.2_Missense_Mutation_p.V324A|NTRK3_ENST00000360948.2_Missense_Mutation_p.V324A|NTRK3_ENST00000557856.1_Missense_Mutation_p.V324A|NTRK3_ENST00000542733.2_Missense_Mutation_p.V226A|NTRK3_ENST00000357724.2_Missense_Mutation_p.V324A|NTRK3_ENST00000355254.2_Missense_Mutation_p.V324A	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	324	Ig-like C2-type 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCCACGCACCACAAACTCGAT	0.597000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			22	22					0	0	0.608945	0	0
CASS4	57091	broad.mit.edu	37	20	55027328	55027328	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr20:55027328C>A	ENST00000371336.3	+	5	1297	c.1096C>A	c.(1096-1098)Ctg>Atg	p.L366M	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Missense_Mutation_p.L366M	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	366					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TGGGAAGGAGCTGGAGAAAGC	0.502000													35	22					2.47316e-13	3.53606e-13	0.779181	1	0
MTMR14	64419	broad.mit.edu	37	3	9719695	9719695	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:9719695C>T	ENST00000296003.4	+	9	972	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S	MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Missense_Mutation_p.P284S|MTMR14_ENST00000351233.5_Missense_Mutation_p.P284S	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	284						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					ATTGAGCATCCCCGACTTCCT	0.557000													18	53					0	0	0.608945	0	0
NETO1	81832	broad.mit.edu	37	18	70417797	70417797	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr18:70417797G>T	ENST00000327305.6	-	9	1698	c.1041C>A	c.(1039-1041)ggC>ggA	p.G347G	NETO1_ENST00000583169.1_Silent_p.G347G|NETO1_ENST00000299430.2_Silent_p.G346G	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	347					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AGGAAGTCACGCCAATGACAG	0.453000													27	28					1.17739e-12	1.6419e-12	0.693898	1	0
SPANXN1	494118	broad.mit.edu	37	X	144329156	144329156	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:144329156G>T	ENST00000370493.3	+	1	809	c.50G>T	c.(49-51)tGt>tTt	p.C17F		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	17										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAGCCCCTGTGAATCCAAC	0.453000													76	47					4.49761e-31	7.94891e-31	0.870114	1	0
COL11A1	1301	broad.mit.edu	37	1	103463870	103463870	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:103463870G>A	ENST00000358392.2	-	25	2545	c.2228C>T	c.(2227-2229)cCt>cTt	p.P743L	COL11A1_ENST00000353414.4_Missense_Mutation_p.P692L|COL11A1_ENST00000512756.1_Missense_Mutation_p.P615L|COL11A1_ENST00000370096.3_Missense_Mutation_p.P731L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	731	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACTTACAGGAGGCCCATCAGC	0.299000													6	10					0	0	0.335167	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26431818	26431818	+	RNA	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:26431818A>T	ENST00000466808.2	+	0	1766																											GTTGTTCCACAGCTCCCAGCC	0.483000													21	80					0	0	0.624587	0	0
RORA	6095	broad.mit.edu	37	15	60806923	60806923	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr15:60806923T>A	ENST00000335670.6	-	4	416	c.316A>T	c.(316-318)Acc>Tcc	p.T106S	RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.T51S|RORA_ENST00000261523.5_Missense_Mutation_p.T139S|RP11-219B17.1_ENST00000558140.1_RNA|RORA_ENST00000560004.1_5'UTR|RORA_ENST00000309157.4_Missense_Mutation_p.T131S|RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000559902.1_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	139					positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						CAGGAGTAGGTGGCATTGCTT	0.438000													29	32					0	0	0.706142	0	0
KCNQ2	3785	broad.mit.edu	37	20	62038292	62038292	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr20:62038292C>A	ENST00000354587.3	-	17	2524	c.2348G>T	c.(2347-2349)aGg>aTg	p.R783M	KCNQ2_ENST00000430658.1_Missense_Mutation_p.R744M|KCNQ2_ENST00000370226.1_Missense_Mutation_p.R745M|KCNQ2_ENST00000357249.2_Missense_Mutation_p.R757M|KCNQ2_ENST00000370224.1_Missense_Mutation_p.R783M|KCNQ2_ENST00000359125.2_Missense_Mutation_p.R775M|KCNQ2_ENST00000359689.1_Missense_Mutation_p.R775M|KCNQ2_ENST00000360480.3_Missense_Mutation_p.R747M|KCNQ2_ENST00000344462.3_Missense_Mutation_p.R771M			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	775					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CTCGGGGGGCCTGCAGCCCGG	0.711000													5	8					3.59834e-05	3.98164e-05	0.217242	1	0
AGMO	392636	broad.mit.edu	37	7	15405839	15405839	+	Silent	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr7:15405839C>A	ENST00000342526.3	-	11	1252	c.1083G>T	c.(1081-1083)tcG>tcT	p.S361S		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	361					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						GAGTAACTTGCGACAGTGCCT	0.403000													10	18					0.00136819	0.00145388	0.411799	1	0
FAM45A	404636	broad.mit.edu	37	10	120882985	120882985	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:120882985C>T	ENST00000361432.2	+	6	624	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L	FAM45A_ENST00000489988.1_3'UTR|FAM45A_ENST00000535029.1_Silent_p.L162L|FAM45A_ENST00000544016.1_Silent_p.L49L	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	200										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		CCCCAGGACTCTGCCTGCCCT	0.557000													10	16					0	0	0.335167	0	0
LY9	4063	broad.mit.edu	37	1	160783461	160783461	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:160783461G>T	ENST00000263285.5	+	3	520	c.490G>T	c.(490-492)Gtg>Ttg	p.V164L	LY9_ENST00000341032.4_Missense_Mutation_p.V164L|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368041.2_Missense_Mutation_p.V124L|LY9_ENST00000471816.1_3'UTR	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	164	Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CATGAAGTCTGTGAAGGTGTC	0.532000													24	69					6.12954e-19	9.78036e-19	0.681144	1	0
ZNF496	84838	broad.mit.edu	37	1	247492753	247492753	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:247492753C>A	ENST00000294753.4	-	3	592	c.128G>T	c.(127-129)cGt>cTt	p.R43L	ZNF496_ENST00000366498.2_Missense_Mutation_p.R43L	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	43	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GCGGAAGAGACGCCGAGAGGA	0.697000													20	41					5.03518e-11	6.69167e-11	0.557998	1	0
DSC1	1823	broad.mit.edu	37	18	28720033	28720033	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr18:28720033G>A	ENST00000257197.3	-	10	1753	c.1492C>T	c.(1492-1494)Ccg>Tcg	p.P498S	DSC1_ENST00000257198.5_Missense_Mutation_p.P498S|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	498	Cadherin 4.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GATATTTCCGGGTCCAGTGCT	0.408000													18	81					0	0	0.520397	0	0
RYR3	6263	broad.mit.edu	37	15	33954852	33954852	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr15:33954852G>T	ENST00000389232.4	+	35	5191	c.5121G>T	c.(5119-5121)ggG>ggT	p.G1707G	RYR3_ENST00000415757.3_Silent_p.G1707G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1707	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGTGCAGCGGGGCCCACATCC	0.567000													20	29					0.00188189	0.00198731	0.608945	1	0
NUDT9	53343	broad.mit.edu	37	4	88356226	88356226	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:88356226G>A	ENST00000473942.1	+	2	173	c.51G>A	c.(49-51)acG>acA	p.T17T	NUDT9_ENST00000302174.4_Silent_p.T67T	NM_198038.2	NP_932155.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	67						mitochondrion	ADP-ribose diphosphatase activity			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		AGGCTCGGACGTCTCCTTACC	0.443000													9	34					0	0	0.307466	0	0
NMT2	9397	broad.mit.edu	37	10	15151838	15151838	+	Splice_Site	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:15151838T>A	ENST00000378165.4	-	11	1419	c.1338_splice	c.e11-1	p.K447_splice	NMT2_ENST00000540259.1_Splice_Site_p.K259_splice|NMT2_ENST00000535341.1_Splice_Site_p.K434_splice|NMT2_ENST00000378150.1_Splice_Site_p.K434_splice|RPP38_ENST00000451677.1_Intron	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	447					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TCAAATCCTTTCTGCCAATTT	0.299000													7	41					0	0	0.278610	0	0
CEP170	9859	broad.mit.edu	37	1	243327830	243327830	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:243327830G>T	ENST00000366542.1	-	13	3483	c.3432C>A	c.(3430-3432)atC>atA	p.I1144I	CEP170_ENST00000366544.1_Silent_p.I1046I|CEP170_ENST00000366543.1_Silent_p.I1046I	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1144	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CAATCCGAGAGATGTTACGCC	0.453000													5	30					0.00307968	0.00320564	0.278610	1	0
TOR3A	64222	broad.mit.edu	37	1	179064300	179064300	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:179064300T>C	ENST00000367627.3	+	6	1893	c.1141T>C	c.(1141-1143)Tct>Cct	p.S381P	TOR3A_ENST00000352445.6_Intron	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	381					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						ACAACTCTTTTCTTCCCAGGG	0.483000													80	138					0	0	0.870114	0	0
PHGDH	26227	broad.mit.edu	37	1	120285605	120285605	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:120285605A>G	ENST00000369407.3	+	10	2790	c.1283A>G	c.(1282-1284)gAc>gGc	p.D428G	PHGDH_ENST00000369409.4_Missense_Mutation_p.D462G|PHGDH_ENST00000482968.1_3'UTR			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	462					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	CTCCGCAGGGACCTGCCCCTG	0.622000													26	93					0	0	0.681144	0	0
MACF1	23499	broad.mit.edu	37	1	39910339	39910339	+	Silent	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:39910339C>G	ENST00000564288.1	+	80	20214	c.19437C>G	c.(19435-19437)ctC>ctG	p.L6479L	MACF1_ENST00000372915.3_Silent_p.L6378L|MACF1_ENST00000567887.1_Silent_p.L6516L|MACF1_ENST00000289893.4_Silent_p.L4922L|MACF1_ENST00000545844.1_Silent_p.L4420L|MACF1_ENST00000317713.7_Silent_p.L4420L|MACF1_ENST00000539005.1_Silent_p.L4290L|MACF1_ENST00000361689.2_Silent_p.L4420L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6488					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTAGGAACTCTATTCCCAGC	0.448000													24	48					0	0	0.639603	0	0
EPHA6	285220	broad.mit.edu	37	3	96706499	96706499	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:96706499G>T	ENST00000389672.5	+	3	814	c.776G>T	c.(775-777)cGc>cTc	p.R259L	EPHA6_ENST00000470610.2_Missense_Mutation_p.R259L|EPHA6_ENST00000542517.1_Missense_Mutation_p.R165L	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	164						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTGGGTGATCGCATCCTCAAA	0.443000													66	153					1.7104e-27	2.9612e-27	0.870114	1	0
PELO	53918	broad.mit.edu	37	5	52096935	52096935	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:52096935A>G	ENST00000274311.2	+	2	1692	c.707A>G	c.(706-708)aAc>aGc	p.N236S	ITGA1_ENST00000504086.1_Intron|ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	236					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				CTCCTGGAAAACCGGTCCAAA	0.453000													6	68					0	0	0.248553	0	0
NLRP7	199713	broad.mit.edu	37	19	55452299	55452299	+	Splice_Site	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:55452299C>G	ENST00000588756.1	-	5	838	c.352_splice	c.e5+1	p.G118_splice	NLRP7_ENST00000592784.1_Splice_Site_p.G118_splice|NLRP7_ENST00000590030.1_Splice_Site_p.G118_splice|NLRP7_ENST00000328092.5_Splice_Site_p.G118_splice|NLRP7_ENST00000446217.1_Splice_Site_p.G146_splice|NLRP7_ENST00000448121.2_Splice_Site_p.G118_splice|NLRP7_ENST00000340844.2_Splice_Site_p.G118_splice			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	118							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		ATTTACCCACCTGGCTTTGCT	0.423000													46	48					0	0	0.870114	0	0
TNRC6A	27327	broad.mit.edu	37	16	24826516	24826516	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr16:24826516A>T	ENST00000395799.3	+	19	4850	c.4721A>T	c.(4720-4722)tAt>tTt	p.Y1574F	TNRC6A_ENST00000315183.7_Missense_Mutation_p.Y1525F|TNRC6A_ENST00000432286.2_Missense_Mutation_p.Y52F|CTD-2515A14.1_ENST00000568895.1_RNA	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1574					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TTTGTTCCCTATGACTTTATG	0.438000													24	55					0	0	0.667858	0	0
FAM47B	170062	broad.mit.edu	37	X	34962320	34962320	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:34962320C>A	ENST00000329357.5	+	1	1408	c.1372C>A	c.(1372-1374)Cac>Aac	p.H458N		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	458										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TCAACGTAGACACACATCGAG	0.483000													26	36					2.79863e-10	3.61549e-10	0.681144	1	0
CACNB4	785	broad.mit.edu	37	2	152732955	152732955	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:152732955C>A	ENST00000360283.6	-	4	661	c.404G>T	c.(403-405)gGa>gTa	p.G135V	CACNB4_ENST00000427385.1_Missense_Mutation_p.G151V|CACNB4_ENST00000534999.1_Missense_Mutation_p.G135V|CACNB4_ENST00000539935.1_Missense_Mutation_p.G169V|CACNB4_ENST00000397327.2_Missense_Mutation_p.G122V|CACNB4_ENST00000201943.5_Missense_Mutation_p.G169V			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	169	SH3.				axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	GTGAAAACGTCCTCTTTTTTG	0.418000													3	16					1.23904e-05	1.4109e-05	0.184627	1	0
CACNA1B	774	broad.mit.edu	37	9	140938287	140938287	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr9:140938287G>A	ENST00000277549.5	+	21	3493	c.924G>A	c.(922-924)gtG>gtA	p.V308V	CACNA1B_ENST00000545473.1_Silent_p.V142V|CACNA1B_ENST00000277551.2_Silent_p.V1116V|CACNA1B_ENST00000371355.4_Silent_p.V1117V|CACNA1B_ENST00000371357.1_Silent_p.V1117V|CACNA1B_ENST00000371363.1_Silent_p.V1116V|CACNA1B_ENST00000371372.1_Silent_p.V1116V			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1116					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CGGATGACGTGATGAGGAGCG	0.602000													21	142					0	0	0.608945	0	0
ZAN	7455	broad.mit.edu	37	7	100350269	100350269	+	RNA	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr7:100350269G>T	ENST00000542585.1	+	0	2689				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCATCCCCATGGAAAAACCCA	0.498000													57	65					2.40265e-35	4.36767e-35	0.870114	1	0
CCDC61	729440	broad.mit.edu	37	19	46498409	46498409	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:46498409G>T	ENST00000263284.2	+	1	71	c.71G>T	c.(70-72)gGg>gTg	p.G24V						coiled-coil domain containing 61											endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		CCTCCCGCAGGGGGTAATAGG	0.602000													10	8					2.27111e-07	2.71999e-07	0.411799	1	0
MUC6	4588	broad.mit.edu	37	11	1028697	1028697	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:1028697T>A	ENST00000421673.2	-	13	1590	c.1540A>T	c.(1540-1542)Atc>Ttc	p.I514F		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	514	VWFD 2.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCTGGAAGATGGGGCGCAGC	0.627000													14	15					0	0	0.435327	0	0
GPR6	2830	broad.mit.edu	37	6	110301337	110301337	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:110301337G>T	ENST00000414000.2	+	3	1306	c.1067G>T	c.(1066-1068)tGg>tTg	p.W356L	GPR6_ENST00000275169.3_Missense_Mutation_p.W341L			P46095	GPR6_HUMAN	G protein-coupled receptor 6	341						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CGCGCCCTGTGGCTCCTGCTC	0.602000													44	71					1.19451e-25	2.04716e-25	0.870114	1	0
NXPE2	120406	broad.mit.edu	37	11	114569400	114569400	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:114569400G>A	ENST00000375475.5	+	3	864	c.766G>A	c.(766-768)Gtg>Atg	p.V256M	NXPE2_ENST00000389586.4_Missense_Mutation_p.V256M					neurexophilin and PC-esterase domain family, member 2																		CTTCTACTGTGTGAGGCCTCA	0.473000													19	35					0	0	0.539581	0	0
FLT3	2322	broad.mit.edu	37	13	28589732	28589732	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr13:28589732G>T	ENST00000380982.4	-	21	2738	c.2657C>A	c.(2656-2658)tCa>tAa	p.S886*	FLT3_ENST00000537084.1_Nonsense_Mutation_p.S842*|FLT3_ENST00000241453.7_Nonsense_Mutation_p.S883*			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	883	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTTACCAAGTGAGAAGATTTC	0.542000			"""Mis, O"""		"""AML, ALL"""								27	23					1.17739e-12	1.6419e-12	0.693898	1	0
FRMPD1	22844	broad.mit.edu	37	9	37732369	37732369	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr9:37732369G>T	ENST00000539465.1	+	10	1520	c.927G>T	c.(925-927)gcG>gcT	p.A309A	FRMPD1_ENST00000536622.1_Silent_p.A131A|FRMPD1_ENST00000377765.3_Silent_p.A309A|FRMPD1_ENST00000541302.1_Silent_p.A178A|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	309	FERM.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TCCGACTCGCGGCTCTGCACA	0.507000													20	43					3.51602e-12	4.81089e-12	0.575678	1	0
TRIML2	205860	broad.mit.edu	37	4	189026075	189026075	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:189026075C>G	ENST00000512729.1	-	2	425	c.51G>C	c.(49-51)caG>caC	p.Q17H	TRIML2_ENST00000536972.1_Missense_Mutation_p.Q67H|TRIML2_ENST00000326754.3_Missense_Mutation_p.Q17H	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	17							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TCAATATTTCCTGGAATAACT	0.388000													22	77					0	0	0.624587	0	0
LRRC41	10489	broad.mit.edu	37	1	46745195	46745195	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:46745195C>T	ENST00000343304.6	-	8	2397	c.2112G>A	c.(2110-2112)ctG>ctA	p.L704L	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	704										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGAGGCCCTTCAGTGTGGAGT	0.572000													18	184					0	0	0.557998	0	0
BTNL2	56244	broad.mit.edu	37	6	32362690	32362690	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:32362690C>A	ENST00000454136.3	-	6	1195	c.1191G>T	c.(1189-1191)atG>atT	p.M397I	BTNL2_ENST00000374995.3_Missense_Mutation_p.M303I|BTNL2_ENST00000374993.1_Missense_Mutation_p.M397I|BTNL2_ENST00000544175.1_Missense_Mutation_p.M120I|BTNL2_ENST00000429232.2_3'UTR|BTNL2_ENST00000540315.1_Missense_Mutation_p.M187I|BTNL2_ENST00000414363.1_Missense_Mutation_p.M187I			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	397						integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TCTTTCCTTCCATGTCCCTCC	0.567000													71	128					5.22007e-41	9.55761e-41	0.870114	1	0
OR14A16	284532	broad.mit.edu	37	1	247978691	247978691	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:247978691G>T	ENST00000357627.1	-	1	340	c.341C>A	c.(340-342)aCg>aAg	p.T114K		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GGACATCACCGTGAGGAGGAG	0.478000													30	62					1.16021e-09	1.46902e-09	0.717897	1	0
PPIL3	53938	broad.mit.edu	37	2	201741695	201741695	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:201741695G>T	ENST00000286175.8	-	6	701	c.318C>A	c.(316-318)ttC>ttA	p.F106L	PPIL3_ENST00000392283.4_Missense_Mutation_p.F102L|PPIL3_ENST00000465823.1_5'UTR|PPIL3_ENST00000409449.1_Missense_Mutation_p.F106L|PPIL3_ENST00000409361.1_Missense_Mutation_p.F98L	NM_032472.3	NP_115861.1	Q9H2H8	PPIL3_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 3	102	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity|protein binding			endometrium(1)|lung(2)	3						CATAGGTGATGAAGAACTGAG	0.378000													5	41					1.024e-07	1.23804e-07	0.184627	1	0
ADA	100	broad.mit.edu	37	20	43251662	43251662	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr20:43251662C>T	ENST00000372874.4	-	7	798	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	ADA_ENST00000537820.1_Intron|ADA_ENST00000464097.1_5'UTR|PKIG_ENST00000372887.1_Intron|PKIG_ENST00000372882.3_Intron	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	222					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	TTTACTACTTCGGCCGAGCCC	0.627000									Adenosine Deaminase Deficiency				25	74					0	0	0.667858	0	0
ACVRL1	94	broad.mit.edu	37	12	52314573	52314573	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr12:52314573G>T	ENST00000550683.1	+	9	1551	c.1450G>T	c.(1450-1452)Gag>Tag	p.E484*	ACVRL1_ENST00000388922.4_Nonsense_Mutation_p.E470*|ACVRL1_ENST00000419526.2_Nonsense_Mutation_p.E296*	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	470	Protein kinase.		R -> W (in HHT2).		blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GATGATGCGGGAGTGCTGGTA	0.562000													15	21					8.28177e-16	1.22899e-15	0.557998	1	0
FAM71E1	112703	broad.mit.edu	37	19	50979642	50979642	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:50979642C>A	ENST00000600100.1	-	1	368	c.4G>T	c.(4-6)Ggg>Tgg	p.G2W	FAM71E1_ENST00000595790.1_Missense_Mutation_p.G2W			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	2										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		AGGGGCGGCCCCATCCTGCTG	0.692000													14	18					6.72482e-11	8.84479e-11	0.479597	1	0
ADAL	161823	broad.mit.edu	37	15	43641179	43641179	+	Silent	SNP	C	C	T	rs112836130		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr15:43641179C>T	ENST00000422466.2	+	11	1282	c.708C>T	c.(706-708)ctC>ctT	p.L236L	ADAL_ENST00000389651.4_Silent_p.L236L|ADAL_ENST00000562188.1_Silent_p.L236L|ADAL_ENST00000428046.3_Silent_p.L209L			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	236					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		GAACATTTCTCAACTCCGGTG	0.478000													22	35					0	0	0.592651	0	0
DNPEP	23549	broad.mit.edu	37	2	220247927	220247927	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:220247927C>G	ENST00000273075.4	-	10	1082	c.862G>C	c.(862-864)Gat>Cat	p.D288H	DNPEP_ENST00000373972.1_Missense_Mutation_p.D213H|DNPEP_ENST00000523282.1_Missense_Mutation_p.D296H	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	278					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	GCACAGGAATCTATCAAGGCC	0.587000													6	35					0	0	0.217242	0	0
MAN2A2	4122	broad.mit.edu	37	15	91447494	91447494	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr15:91447494C>T	ENST00000360468.3	+	1	75	c.57C>T	c.(55-57)gtC>gtT	p.V19V	MAN2A2_ENST00000559717.1_Silent_p.V19V	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	19					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GTGTGGCAGTCTTCTCGCTCT	0.562000													45	39					0	0	0.870114	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508664	37508664	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:37508664A>T	ENST00000374660.1	+	40	4312	c.4213A>T	c.(4213-4215)Aag>Tag	p.K1405*	ANKRD30A_ENST00000602533.1_Nonsense_Mutation_p.K1286*|ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.K1286*			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1342						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TCATGCACATAAGAAAGCTGA	0.328000													10	31					0	0	0.335167	0	0
KCNT2	343450	broad.mit.edu	37	1	196311222	196311222	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:196311222G>T	ENST00000367433.5	-	15	1641	c.1540C>A	c.(1540-1542)Cat>Aat	p.H514N	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Missense_Mutation_p.H125N|KCNT2_ENST00000294725.8_Missense_Mutation_p.H514N|KCNT2_ENST00000367431.4_Intron			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	514	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTGTGTGCATGGAAAGAGGCA	0.333000													9	38					4.68919e-08	5.69641e-08	0.361761	1	0
CHGB	1114	broad.mit.edu	37	20	5903171	5903171	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr20:5903171C>T	ENST00000378961.4	+	4	585	c.381C>T	c.(379-381)ggC>ggT	p.G127G		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	127						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CAGAGGGAGGCGGGCACAGCC	0.617000													15	10					0	0	0.520397	0	0
LSG1	55341	broad.mit.edu	37	3	194387265	194387265	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:194387265C>T	ENST00000265245.5	-	3	577	c.263G>A	c.(262-264)aGa>aAa	p.R88K		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	88					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		TAGTCCAGTTCTAGCCTCAGC	0.383000													10	62					0	0	0.335167	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763230	77763230	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:77763230C>A	ENST00000521891.2	+	10	4521	c.4073C>A	c.(4072-4074)tCa>tAa	p.S1358*	ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.S1332*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.S1313*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.S1313*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1313						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTGGAAGTCTCAGAATGGAAT	0.423000										HNSCC(33;0.089)			12	37					0.010729	0.0110325	0.387290	1	0
HIST1H3F	8968	broad.mit.edu	37	6	26250492	26250492	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:26250492G>A	ENST00000446824.2	-	1	343	c.342C>T	c.(340-342)caC>caT	p.H114H		NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	114					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			lung(6)|urinary_tract(1)	7						CTCGCTTGGCGTGGATAGCAC	0.602000											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	99					0	0	0.435327	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367256	105367256	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:105367256C>G	ENST00000297581.2	+	3	1230	c.1181C>G	c.(1180-1182)tCc>tGc	p.S394C	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	394					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											GGACTGTTGTCCTCTATCCTT	0.423000													20	62					0	0	0.592651	0	0
XIRP2	129446	broad.mit.edu	37	2	168104029	168104029	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:168104029C>A	ENST00000409195.1	+	9	6216	c.6127C>A	c.(6127-6129)Ctt>Att	p.L2043I	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L1821I|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L2043I|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1868					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGAGAAAAGCCTTAGAAGACT	0.393000													22	32					1.55795e-14	2.28529e-14	0.608945	1	0
HNF4A	3172	broad.mit.edu	37	20	43052920	43052920	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr20:43052920G>T	ENST00000443598.2	+	8	1244	c.1155G>T	c.(1153-1155)cgG>cgT	p.R385R	HNF4A_ENST00000457232.1_Intron|HNF4A_ENST00000316099.3_Intron|HNF4A_ENST00000415691.1_Intron	NM_001030004.2|NM_178850.2	NP_001025175.1|NP_849181.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	377					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AGgaggggcggggttggagtg	0.602000													15	10					4.7546e-09	5.9171e-09	0.500413	1	0
KIAA0947	23379	broad.mit.edu	37	5	5460982	5460982	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:5460982G>T	ENST00000296564.7	+	13	1757	c.1535G>T	c.(1534-1536)aGa>aTa	p.R512I		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	512										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGCATTGAGAGATTGTCTGCC	0.448000													19	77					5.3912e-06	6.23664e-06	0.539581	1	0
MED13L	23389	broad.mit.edu	37	12	116399155	116399155	+	Silent	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr12:116399155C>A	ENST00000281928.3	-	31	6755	c.6549G>T	c.(6547-6549)ccG>ccT	p.P2183P	RP11-493P1.2_ENST00000549725.1_RNA	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2183					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CCTGGGTGGCCGGATTGCACG	0.517000													18	24					2.35188e-11	3.16695e-11	0.539581	1	0
C8orf34	116328	broad.mit.edu	37	8	69445345	69445345	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:69445345G>A	ENST00000337103.4	+	6	2325	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	C8orf34_ENST00000539993.1_Missense_Mutation_p.E270K|C8orf34_ENST00000518698.1_Missense_Mutation_p.E356K|C8orf34_ENST00000348340.2_Missense_Mutation_p.E270K			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	270					signal transduction		cAMP-dependent protein kinase regulator activity	p.E270Q(1)|p.E245Q(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TGTAACAGAAGAAGATATTGA	0.358000													8	120					0	0	0.307466	0	0
EYA2	2139	broad.mit.edu	37	20	45797789	45797789	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr20:45797789T>G	ENST00000327619.5	+	11	1355	c.981T>G	c.(979-981)gaT>gaG	p.D327E	EYA2_ENST00000317304.6_Missense_Mutation_p.D297E|EYA2_ENST00000357410.3_Missense_Mutation_p.D327E	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	327					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TTCCATAGGATTGTGACCAGA	0.453000													10	110					0	0	0.335167	0	0
VCAN	1462	broad.mit.edu	37	5	82808047	82808047	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:82808047G>A	ENST00000265077.3	+	6	1439	c.874G>A	c.(874-876)Gac>Aac	p.D292N	VCAN_ENST00000342785.4_Missense_Mutation_p.D292N|VCAN_ENST00000502527.2_Missense_Mutation_p.D292N|VCAN_ENST00000512590.2_Missense_Mutation_p.D244N|VCAN_ENST00000343200.5_Missense_Mutation_p.D292N|VCAN_ENST00000513984.1_Missense_Mutation_p.D292N	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	292	Link 2.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GAACGGCTTTGACCAGTGCGA	0.597000													5	23					0	0	0.184627	0	0
SYNPO2	171024	broad.mit.edu	37	4	119978890	119978890	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:119978890G>T	ENST00000307142.4	+	5	3783	c.3587G>T	c.(3586-3588)aGg>aTg	p.R1196M	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCATGTGGAAGGCAAGAGTAT	0.458000													32	128					3.1745e-13	4.50089e-13	0.729181	1	0
C6orf15	29113	broad.mit.edu	37	6	31079656	31079656	+	Silent	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:31079656T>A	ENST00000259870.3	-	2	483	c.480A>T	c.(478-480)acA>acT	p.T160T		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	160										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						GTGAGAGGCCTGTGGCATCGG	0.617000													23	27					0	0	0.639603	0	0
C1orf94	84970	broad.mit.edu	37	1	34684349	34684349	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:34684349G>T	ENST00000488417.1	+	7	1904	c.1784G>T	c.(1783-1785)gGc>gTc	p.G595V	C1orf94_ENST00000373374.3_Missense_Mutation_p.G405V	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	405							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AGTGGGAATGGCATAAACTTT	0.507000													23	41					7.88262e-20	1.28187e-19	0.654019	1	0
RP1L1	94137	broad.mit.edu	37	8	10480667	10480667	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:10480667C>A	ENST00000382483.3	-	2	268	c.45G>T	c.(43-45)gaG>gaT	p.E15D	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	15					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCAGGAAGCACTCACGGTGGC	0.647000													21	22					1.77063e-15	2.61992e-15	0.693898	1	0
IQCG	84223	broad.mit.edu	37	3	197616456	197616456	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:197616456T>A	ENST00000265239.6	-	12	1751	c.1327A>T	c.(1327-1329)Aag>Tag	p.K443*	IQCG_ENST00000455191.1_Nonsense_Mutation_p.K443*	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	443										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		CTTGGTCACTTCTTCTTGCCT	0.428000													38	95					0	0	0.827153	0	0
HSPA8	3312	broad.mit.edu	37	11	122931888	122931888	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:122931888G>A	ENST00000534624.1	-	2	421	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	HSPA8_ENST00000227378.3_Missense_Mutation_p.R49W|HSPA8_ENST00000526110.1_Missense_Mutation_p.R49W|HSPA8_ENST00000533540.1_Missense_Mutation_p.R49W|HSPA8_ENST00000532636.1_Missense_Mutation_p.R49W|HSPA8_ENST00000453788.2_Missense_Mutation_p.R49W	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	49					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CCGATCAACCGTTCAGTGTCC	0.443000													20	21					0	0	0.575678	0	0
NELL1	4745	broad.mit.edu	37	11	21392425	21392425	+	Missense_Mutation	SNP	G	G	C	rs8176788	byFrequency	TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:21392425G>C	ENST00000298925.5	+	16	1813	c.1660G>C	c.(1660-1662)Ggt>Cgt	p.G554R	NELL1_ENST00000357134.5_Missense_Mutation_p.G526R|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Missense_Mutation_p.G526R|NELL1_ENST00000325319.5_Missense_Mutation_p.G469R			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	526	EGF-like 5; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CTGCAGATACGGTGGAACGTG	0.438000													3	26					0	0	0.150653	0	0
MBTPS1	8720	broad.mit.edu	37	16	84126810	84126810	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr16:84126810C>A	ENST00000343411.3	-	6	1324	c.829G>T	c.(829-831)Gtc>Ttc	p.V277F	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	277	Serine protease.				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTGGTAAAGACCCTGAAAATG	0.463000													24	51					3.5997e-14	5.23499e-14	0.624587	1	0
PLEKHA7	144100	broad.mit.edu	37	11	16848004	16848004	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:16848004C>T	ENST00000355661.3	-	10	1016	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.E336K|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.E336K			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	336					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TCCTGCCTCTCGAAGTTGACA	0.617000													39	58					0	0	0.827153	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52003360	52003360	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:52003360G>T	ENST00000291707.3	-	2	677	c.622C>A	c.(622-624)Cca>Aca	p.P208T	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.P90T	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	208	Ig-like V-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TTTCCACTTGGGGTGTTTGTG	0.537000													46	58					3.05275e-18	4.73734e-18	0.864702	1	0
APOBEC4	403314	broad.mit.edu	37	1	183617857	183617857	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:183617857G>T	ENST00000308641.4	-	2	331	c.60C>A	c.(58-60)taC>taA	p.Y20*	RGL1_ENST00000367531.1_Intron|RGL1_ENST00000304685.3_Intron|APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000536277.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	20					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						AGCTTAGCCAGTAATATGGTT	0.388000													16	49					2.31682e-05	2.60899e-05	0.479597	1	0
USP26	83844	broad.mit.edu	37	X	132160222	132160222	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:132160222G>T	ENST00000511190.1	-	6	2496	c.2027C>A	c.(2026-2028)cCt>cAt	p.P676H	USP26_ENST00000406273.1_Missense_Mutation_p.P676H|USP26_ENST00000370832.1_Missense_Mutation_p.P676H	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	676					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GCTGCTGGCAGGTTTACCTCC	0.428000													48	18					2.27781e-18	3.5674e-18	0.870114	1	0
NANOG	79923	broad.mit.edu	37	12	7942359	7942359	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr12:7942359C>A	ENST00000229307.4	+	1	368	c.149C>A	c.(148-150)aCt>aAt	p.T50N	NANOG_ENST00000526286.1_Missense_Mutation_p.T50N	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	50					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		CACACGGAGACTGGTAAGAAA	0.438000													56	48					2.44813e-32	4.37228e-32	0.870114	1	0
DOCK10	55619	broad.mit.edu	37	2	225664932	225664932	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:225664932T>A	ENST00000409592.3	-	41	4537	c.4424A>T	c.(4423-4425)aAt>aTt	p.N1475I	DOCK10_ENST00000258390.7_Missense_Mutation_p.N1481I			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1481							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CGTAGCTATATTGGCCTCAGT	0.373000													3	22					0	0	0.150653	0	0
CRHR1	1394	broad.mit.edu	37	17	43893861	43893861	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:43893861G>T	ENST00000314537.5	+	3	379	c.154G>T	c.(154-156)Ggc>Tgc	p.G52C	CRHR1_ENST00000339069.5_5'UTR|CRHR1_ENST00000398285.3_Missense_Mutation_p.G52C|CRHR1_ENST00000352855.5_Intron|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000577353.1_Missense_Mutation_p.G52C	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	52					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GGACCTCATTGGCACCTGCTG	0.612000													14	38					0.00185496	0.00196294	0.435327	1	0
PTPRB	5787	broad.mit.edu	37	12	71029663	71029663	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr12:71029663C>A	ENST00000334414.6	-	2	283	c.239G>T	c.(238-240)cGc>cTc	p.R80L	PTPRB_ENST00000551525.1_Missense_Mutation_p.R79L|PTPRB_ENST00000550358.1_Missense_Mutation_p.R80L|PTPRB_ENST00000538174.2_5'UTR	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 1.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GATGGCTGAGCGGGAGGGGCC	0.542000													11	8					3.07112e-06	3.56895e-06	0.387290	1	0
PTCRA	171558	broad.mit.edu	37	6	42891049	42891049	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:42891049G>T	ENST00000304672.1	+	2	424	c.343G>T	c.(343-345)Ggt>Tgt	p.G115C	PTCRA_ENST00000441198.1_Missense_Mutation_p.G90C|PTCRA_ENST00000446507.1_Intron	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	115						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			TGGGGCTGAGGGTCACAGCAG	0.617000													10	60					1.58986e-06	1.86892e-06	0.361761	1	0
LRP2	4036	broad.mit.edu	37	2	170013974	170013974	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:170013974C>G	ENST00000263816.3	-	64	12211	c.11926G>C	c.(11926-11928)Gag>Cag	p.E3976Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3976	EGF-like 14.				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			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)	CAATTTTGCTCGCATATATTT	0.383000													4	26					0	0	0.150653	0	0
NPHS1	4868	broad.mit.edu	37	19	36333029	36333029	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:36333029G>T	ENST00000378910.5	-	19	2659	c.2660C>A	c.(2659-2661)cCc>cAc	p.P887H	NPHS1_ENST00000353632.6_Missense_Mutation_p.P887H	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	887	Ig-like C2-type 8.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGCTCACCTGGGATCTTGGAG	0.612000													15	3					6.72482e-11	8.84479e-11	0.479597	1	0
PEX5L	51555	broad.mit.edu	37	3	179525602	179525602	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:179525602G>T	ENST00000467460.1	-	14	1866	c.1536C>A	c.(1534-1536)aaC>aaA	p.N512K	PEX5L_ENST00000263962.8_Missense_Mutation_p.N510K|PEX5L_ENST00000485199.1_Missense_Mutation_p.N477K|PEX5L_ENST00000476138.1_Missense_Mutation_p.N469K|PEX5L_ENST00000472994.1_Missense_Mutation_p.N453K|PEX5L_ENST00000468741.1_Missense_Mutation_p.N320K|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.N488K|PEX5L_ENST00000464614.1_Missense_Mutation_p.N404K|PEX5L_ENST00000392649.3_Missense_Mutation_p.N404K	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	512					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CCCCGAGGCGGTTCCATAGTG	0.522000													30	97					2.85442e-18	4.44311e-18	0.750413	1	0
STAR	6770	broad.mit.edu	37	8	38006204	38006204	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:38006204G>T	ENST00000276449.4	-	2	579	c.133C>A	c.(133-135)Cct>Act	p.P45T		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	45					C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		CACGTGCTAGGGGTGGGGCCC	0.632000													16	56					1.33834e-09	1.69036e-09	0.557998	1	0
INVS	27130	broad.mit.edu	37	9	103046619	103046619	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr9:103046619A>T	ENST00000262457.2	+	13	1987	c.1802A>T	c.(1801-1803)aAc>aTc	p.N601I	INVS_ENST00000541287.1_Missense_Mutation_p.N505I|INVS_ENST00000262456.2_Missense_Mutation_p.N601I	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	601					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				GAGGAAGAAAACAAACGAAAA	0.468000													32	40					0	0	0.769981	0	0
ABCA5	23461	broad.mit.edu	37	17	67251713	67251713	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:67251713C>A	ENST00000392676.3	-	31	4103	c.4039G>T	c.(4039-4041)Gtt>Ttt	p.V1347F	ABCA5_ENST00000392677.2_Missense_Mutation_p.V1348F|ABCA5_ENST00000588877.1_Missense_Mutation_p.V1347F			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1347	ABC transporter 2.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					ATATCACCAACCAGAATATTA	0.308000													13	25					0.000308642	0.000334965	0.479597	1	0
FAM46B	115572	broad.mit.edu	37	1	27333018	27333018	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:27333018C>A	ENST00000289166.5	-	2	860	c.695G>T	c.(694-696)tGc>tTc	p.C232F		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	232										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		AGTGGACGAGCACTGGCCAAA	0.582000													17	37					0.000566183	0.000610566	0.520397	1	0
HLA-C	3107	broad.mit.edu	37	6	31239513	31239513	+	Missense_Mutation	SNP	C	C	T	rs41548913		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:31239513C>T	ENST00000383329.3	-	2	220	c.206G>A	c.(205-207)gGg>gAg	p.G69E	HLA-C_ENST00000376228.5_Missense_Mutation_p.G69E			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	69	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex		p.G69E(5)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CCGCGGCTCCCCTCTCGGACT	0.697000													5	91					0	0	0.278610	0	0
HCN1	348980	broad.mit.edu	37	5	45262698	45262698	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:45262698C>T	ENST00000303230.4	-	8	2055	c.1998G>A	c.(1996-1998)ccG>ccA	p.P666P		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	666						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGTGTACACCGGTGGAGATT	0.572000													4	49					0	0	0.150653	0	0
OR8S1	341568	broad.mit.edu	37	12	48921852	48921852	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr12:48921852C>A	ENST00000310194.1	+	2	1046	c.1046C>A	c.(1045-1047)tCc>tAc	p.S349Y	OR8S1_ENST00000551654.1_3'UTR	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	349					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TGCGCATGCTCCGCGCTGCGC	0.657000													13	11					1.5842e-08	1.94303e-08	0.435327	1	0
LPIN2	9663	broad.mit.edu	37	18	2937988	2937988	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr18:2937988A>C	ENST00000261596.4	-	7	1108	c.870T>G	c.(868-870)atT>atG	p.I290M		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	290					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CTGATGGTGTAATTGTAGCTG	0.368000													10	152					0	0	0.335167	0	0
ZNF480	147657	broad.mit.edu	37	19	52817532	52817532	+	Splice_Site	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:52817532G>T	ENST00000595962.1	+	3	265	c.199_splice	c.e3+1	p.G67_splice	ZNF480_ENST00000335090.6_Intron|ZNF480_ENST00000490272.1_Intron|ZNF480_ENST00000334564.7_Splice_Site_p.G67_splice|CTD-2525I3.6_ENST00000594379.1_RNA	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GGTCTCCCTGGGTGAGGATCA	0.527000													41	50					2.35958e-20	3.87429e-20	0.847076	1	0
BEND6	221336	broad.mit.edu	37	6	56846716	56846716	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:56846716G>A	ENST00000370748.3	+	2	543	c.108G>A	c.(106-108)atG>atA	p.M36I	BEND6_ENST00000370750.2_Missense_Mutation_p.M36I|BEND6_ENST00000370746.3_Missense_Mutation_p.M36I|BEND6_ENST00000370745.1_Missense_Mutation_p.M36I			Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	36										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						ATAGTGACATGGATAAAGGAC	0.348000													16	59					0	0	0.520397	0	0
VCAN	1462	broad.mit.edu	37	5	82836357	82836357	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:82836357A>T	ENST00000265077.3	+	8	8100	c.7535A>T	c.(7534-7536)tAt>tTt	p.Y2512F	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.Y1525F|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2512	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACAGTGTCATATGAGAGGTCC	0.428000													11	62					0	0	0.361761	0	0
EPHA6	285220	broad.mit.edu	37	3	96706738	96706738	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:96706738A>T	ENST00000389672.5	+	3	1053	c.1015A>T	c.(1015-1017)Act>Tct	p.T339S	EPHA6_ENST00000470610.2_Missense_Mutation_p.T339S|EPHA6_ENST00000542517.1_Missense_Mutation_p.T245S	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	244	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AGAGCGTGACACTCCTAAACT	0.473000													23	74					0	0	0.624587	0	0
FRMD3	257019	broad.mit.edu	37	9	85950556	85950556	+	Splice_Site	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr9:85950556T>A	ENST00000304195.3	-	6	679		c.e6-2		FRMD3_ENST00000376438.1_Splice_Site	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3							cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CAAGCTCAGCTGTAATGAGTG	0.413000													3	13					0	0	0.115264	0	0
CNOT10	25904	broad.mit.edu	37	3	32746360	32746360	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:32746360G>A	ENST00000328834.5	+	3	491	c.175G>A	c.(175-177)Gat>Aat	p.D59N	CNOT10_ENST00000331889.6_Missense_Mutation_p.D59N|CNOT10_ENST00000454516.2_Missense_Mutation_p.D119N|CNOT10_ENST00000538368.1_De_novo_Start_InFrame	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	59					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						TATAAACAAAGATGATTATAA	0.313000													12	30					0	0	0.411799	0	0
ANKRD17	26057	broad.mit.edu	37	4	73984516	73984516	+	Silent	SNP	T	T	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:73984516T>C	ENST00000358602.4	-	22	4193	c.4077A>G	c.(4075-4077)ctA>ctG	p.L1359L	ANKRD17_ENST00000330838.6_Silent_p.L1108L|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Silent_p.L1246L	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1359					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CATTTGCTGCTAGCCACAATG	0.428000													75	114					0	0	0.870114	0	0
HUNK	30811	broad.mit.edu	37	21	33296855	33296855	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr21:33296855C>G	ENST00000270112.2	+	2	697	c.337C>G	c.(337-339)Cag>Gag	p.Q113E		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	113	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GCGAGAGGGTCAGATCCAGCA	0.483000													7	54					0	0	0.335167	0	0
CHRD	8646	broad.mit.edu	37	3	184099529	184099529	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:184099529G>A	ENST00000204604.1	+	5	783	c.537G>A	c.(535-537)ccG>ccA	p.P179P	CHRD_ENST00000450923.1_Silent_p.P179P|CHRD_ENST00000482805.1_3'UTR|CHRD_ENST00000348986.3_Silent_p.P179P|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	179	CHRD 1.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGACAGGGCCGAGGTCGCAGG	0.647000													4	28					0	0	0.217242	0	0
AKAP6	9472	broad.mit.edu	37	14	33291952	33291952	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr14:33291952C>T	ENST00000280979.4	+	13	5103	c.4933C>T	c.(4933-4935)Ccc>Tcc	p.P1645S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1645	Ser-rich.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TATCCAGAGCCCCTCAGAGCA	0.433000													8	45					0	0	0.307466	0	0
MMP8	4317	broad.mit.edu	37	11	102585338	102585338	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:102585338G>A	ENST00000236826.3	-	8	1237	c.1139C>T	c.(1138-1140)gCt>gTt	p.A380V		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	380	Hemopexin-like 3.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		GTAGAAAACAGCTGCGTCAAT	0.383000													21	41					0	0	0.608945	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33751556	33751556	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:33751556C>A	ENST00000504830.1	-	3	922	c.587G>T	c.(586-588)aGg>aTg	p.R196M	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000515401.1_Missense_Mutation_p.R196M|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R196M	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	196					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTTCTGCCTCCTGTAAACGAT	0.468000										HNSCC(64;0.19)			21	72					4.35082e-09	5.42786e-09	0.592651	1	0
SNHG14	104472715	broad.mit.edu	37	15	25430592	25430592	+	RNA	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr15:25430592G>T	ENST00000424208.1	+	0	453					NR_003305.1																						CCCTCCAGATGGTGAGCACAG	0.587000													6	14					5.9392e-07	7.07975e-07	0.217242	1	0
CDH20	28316	broad.mit.edu	37	18	59174760	59174760	+	Silent	SNP	C	C	A	rs150698717		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr18:59174760C>A	ENST00000262717.4	+	6	1382	c.984C>A	c.(982-984)ccC>ccA	p.P328P	CDH20_ENST00000536675.2_Silent_p.P328P|CDH20_ENST00000538374.1_Silent_p.P328P			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	328	Cadherin 3.		P -> H (in dbSNP:rs1943330).		homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GCACAGATCCCAATTTCCAAG	0.398000													28	35					2.12542e-12	2.93181e-12	0.706142	1	0
ZNF646	9726	broad.mit.edu	37	16	31089217	31089217	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr16:31089217C>T	ENST00000394979.2	+	1	1995	c.1572C>T	c.(1570-1572)atC>atT	p.I524I	ZNF646_ENST00000300850.5_Silent_p.I524I			O15015	ZN646_HUMAN	zinc finger protein 646	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GTGCAGACATCGGGGCTGAGG	0.622000													20	31					0	0	0.592651	0	0
AHNAK	79026	broad.mit.edu	37	11	62293335	62293335	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:62293335C>A	ENST00000378024.4	-	5	8828	c.8554G>T	c.(8554-8556)Gat>Tat	p.D2852Y	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2852					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACATCCACATCTCCTTTTATT	0.423000													68	176					1.20466e-24	2.03712e-24	0.870114	1	0
HUNK	30811	broad.mit.edu	37	21	33296974	33296974	+	Silent	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr21:33296974C>A	ENST00000270112.2	+	2	816	c.456C>A	c.(454-456)atC>atA	p.I152I		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	152	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TGCACAAGATCTATGAGAAGA	0.562000													18	131					1.67942e-08	2.04993e-08	0.539581	1	0
KCTD8	386617	broad.mit.edu	37	4	44450140	44450140	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:44450140G>T	ENST00000360029.3	-	1	684	c.401C>A	c.(400-402)gCc>gAc	p.A134D		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	134						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GAAATACTCGGCCTCGCGCAG	0.617000										HNSCC(17;0.042)			6	33					3.59834e-05	3.98164e-05	0.217242	1	0
ZNF426	79088	broad.mit.edu	37	19	9639792	9639792	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:9639792C>A	ENST00000593003.1	-	6	1292	c.815G>T	c.(814-816)tGt>tTt	p.C272F	ZNF426_ENST00000253115.2_Missense_Mutation_p.C310F|ZNF426_ENST00000535489.1_Missense_Mutation_p.C310F			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						ACATTCCTTACATTCATATGG	0.413000													40	43					4.14481e-20	6.78363e-20	0.819951	1	0
PDSS2	57107	broad.mit.edu	37	6	107655415	107655415	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:107655415C>G	ENST00000369037.4	-	2	695	c.418G>C	c.(418-420)Ggg>Cgg	p.G140R	PDSS2_ENST00000453874.2_Missense_Mutation_p.G140R|PDSS2_ENST00000369031.4_Missense_Mutation_p.G140R	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	140					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		GAGTAGATCCCACTGACCATG	0.453000													11	43					0	0	0.435327	0	0
CLTCL1	8218	broad.mit.edu	37	22	19175557	19175557	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr22:19175557C>T	ENST00000263200.10	-	28	4442	c.4370G>A	c.(4369-4371)aGc>aAc	p.S1457N	CLTCL1_ENST00000427926.1_Missense_Mutation_p.S1457N|CLTCL1_ENST00000353891.5_Missense_Mutation_p.S1457N|CLTCL1_ENST00000442042.2_Intron	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1457	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GTTGTTGTGGCTCTGGACTGA	0.582000			T	?	ALCL								38	138					0	0	0.834066	0	0
MUC16	94025	broad.mit.edu	37	19	9088385	9088385	+	Missense_Mutation	SNP	C	C	A	rs145606635	by1000genomes	TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:9088385C>A	ENST00000397910.4	-	1	3633	c.3430G>T	c.(3430-3432)Ggc>Tgc	p.G1144C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1144	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTAGCAGAGCCAGGATCAGGA	0.463000													39	30					2.91434e-09	3.66271e-09	0.804634	1	0
GRM3	2913	broad.mit.edu	37	7	86416308	86416308	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr7:86416308G>T	ENST00000361669.2	+	3	2299	c.1200G>T	c.(1198-1200)atG>atT	p.M400I	GRM3_ENST00000394720.2_Missense_Mutation_p.M398I|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.M400I|GRM3_ENST00000536043.1_Missense_Mutation_p.M272I	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	400					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGTATGCCATGGCCCACGCTT	0.527000													63	62					6.75472e-32	1.20215e-31	0.870114	1	0
CDH10	1008	broad.mit.edu	37	5	24487864	24487864	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:24487864C>A	ENST00000264463.4	-	12	2782	c.2275G>T	c.(2275-2277)Gac>Tac	p.D759Y	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	759					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TAGTTTTGGTCTCCTTCAGTA	0.458000										HNSCC(23;0.051)			17	142					1.15088e-07	1.3816e-07	0.500413	1	0
RNF40	9810	broad.mit.edu	37	16	30780669	30780669	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr16:30780669C>T	ENST00000324685.6	+	16	2845	c.2410C>T	c.(2410-2412)Cgg>Tgg	p.R804W	RNF40_ENST00000567365.1_3'UTR|RNF40_ENST00000402121.3_Missense_Mutation_p.R496W|RNF40_ENST00000357890.5_Missense_Mutation_p.R704W|RNF40_ENST00000563683.1_Missense_Mutation_p.R764W	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	804					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CAAGCTGCTGCGGGAGGAGAA	0.582000													45	74					0	0	0.870114	0	0
ENAM	10117	broad.mit.edu	37	4	71510165	71510165	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:71510165A>C	ENST00000396073.3	+	9	3303	c.3022A>C	c.(3022-3024)Aat>Cat	p.N1008H	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1008					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CAACCAGCTCAATGAAAGAAC	0.418000													47	67					0	0	0.870114	0	0
CAPN13	92291	broad.mit.edu	37	2	30993187	30993187	+	Silent	SNP	G	G	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:30993187G>C	ENST00000295055.8	-	5	692	c.516C>G	c.(514-516)gcC>gcG	p.A172A	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Silent_p.A172A	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	172	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					ACTTGGCATAGGCCTTCTCCA	0.562000													5	46					0	0	0.217242	0	0
OR7A17	26333	broad.mit.edu	37	19	14991976	14991976	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:14991976G>T	ENST00000327462.2	-	1	288	c.192C>A	c.(190-192)tcC>tcA	p.S64S		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					AGGACAGGTTGGAGAGGAAGA	0.502000													33	38					1.836e-18	2.89327e-18	0.788014	1	0
IQCG	84223	broad.mit.edu	37	3	197616455	197616455	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:197616455T>C	ENST00000265239.6	-	12	1752	c.1328A>G	c.(1327-1329)aAg>aGg	p.K443R	IQCG_ENST00000455191.1_Missense_Mutation_p.K443R	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	443										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		ACTTGGTCACTTCTTCTTGCC	0.428000													38	96					0	0	0.827153	0	0
CENPF	1063	broad.mit.edu	37	1	214830292	214830292	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:214830292C>T	ENST00000366955.3	+	18	8670	c.8502C>T	c.(8500-8502)acC>acT	p.T2834T		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2930	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TTATGGATACCAAGGTCGATG	0.388000													12	50					0	0	0.387290	0	0
ITGB3	3690	broad.mit.edu	37	17	45376782	45376782	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:45376782T>A	ENST00000559488.1	+	11	1815	c.1799T>A	c.(1798-1800)cTg>cAg	p.L600Q	ITGB3_ENST00000435993.2_Missense_Mutation_p.L553Q|ITGB3_ENST00000560629.1_Silent_p.A588A	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	600	Cysteine-rich tandem repeats.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	AATGGGCTGCTGTGCAGCGGC	0.617000													38	88					0	0	0.819951	0	0
XKR9	389668	broad.mit.edu	37	8	71619241	71619241	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:71619241G>T	ENST00000408926.3	+	4	880	c.346G>T	c.(346-348)Gaa>Taa	p.E116*	XKR9_ENST00000520273.1_3'UTR|XKR9_ENST00000520030.1_Nonsense_Mutation_p.E116*	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	116						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			CTTCGTGGAAGAACAAATTGA	0.358000													36	44					7.11191e-15	1.04926e-14	0.769981	1	0
FGFBP2	83888	broad.mit.edu	37	4	15964579	15964579	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:15964579C>A	ENST00000259989.6	-	1	280	c.174G>T	c.(172-174)tgG>tgT	p.W58C	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	58						extracellular space	growth factor binding			central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CGACACGAAGCCAGACTTCTC	0.577000													26	33					4.72057e-08	5.72088e-08	0.667858	1	0
USP24	23358	broad.mit.edu	37	1	55622646	55622646	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:55622646T>A	ENST00000294383.6	-	12	1420	c.1421A>T	c.(1420-1422)gAa>gTa	p.E474V	USP24_ENST00000407756.1_Missense_Mutation_p.E362V	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	474					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTTAGTGAGTTCATCTAACGA	0.373000													44	82					0	0	0.853193	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232596659	232596659	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:232596659C>A	ENST00000366630.1	-	9	3427	c.3069G>T	c.(3067-3069)caG>caT	p.Q1023H	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.Q1023H|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.Q97H			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1023	PDZ.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CATCATGGGGCTGGATGATGA	0.587000													14	23					6.72482e-11	8.84479e-11	0.479597	1	0
RSPH3	83861	broad.mit.edu	37	6	159420896	159420896	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:159420896G>C	ENST00000252655.1	-	1	302	c.113C>G	c.(112-114)gCc>gGc	p.A38G	RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000367069.2_5'UTR|RSPH3_ENST00000297262.3_Missense_Mutation_p.A38G	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	38										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		AAGGACTGCGGCACAAGGGAC	0.697000													12	25					0	0	0.411799	0	0
BRIP1	83990	broad.mit.edu	37	17	59876591	59876591	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:59876591C>T	ENST00000259008.2	-	9	1477	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	BRIP1_ENST00000577598.1_Missense_Mutation_p.E404K	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	404	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTTGCTGATTCCCGAGCACAG	0.358000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					35	52					0	0	0.788014	0	0
EBF3	253738	broad.mit.edu	37	10	131639270	131639270	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:131639270C>G	ENST00000368648.3	-	14	1444	c.1372G>C	c.(1372-1374)Gtg>Ctg	p.V458L	EBF3_ENST00000355311.5_Missense_Mutation_p.V467L	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	467					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CGCGGGGACACGCTGCTTGTA	0.552000													21	38					0	0	0.608945	0	0
GRM5	2915	broad.mit.edu	37	11	88300349	88300349	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:88300349G>T	ENST00000418177.2	-	8	2869	c.2502C>A	c.(2500-2502)cgC>cgA	p.R834R	GRM5_ENST00000305447.4_Silent_p.R834R|GRM5_ENST00000455756.2_Silent_p.R834R|GRM5_ENST00000305432.5_Silent_p.R834R|GRM5_ENST00000393297.1_Silent_p.R834R			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	834					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TGAAGGCGCTGCGCACGTTTC	0.572000													22	69					4.35082e-09	5.42786e-09	0.592651	1	0
GLT8D1	55830	broad.mit.edu	37	3	52731792	52731792	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:52731792G>A	ENST00000407584.3	-	5	1124	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	GLT8D1_ENST00000478968.2_Missense_Mutation_p.R92C|GLT8D1_ENST00000266014.5_Missense_Mutation_p.R92C|GLT8D1_ENST00000491606.1_Missense_Mutation_p.R92C|GLT8D1_ENST00000394783.3_Missense_Mutation_p.R92C	NM_001010983.1|NM_001278280.1	NP_001010983.1|NP_001265209.1	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	92						integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACATTGGAGCGAGTGTTGTGC	0.468000													25	51					0	0	0.667858	0	0
KRTAP9-8	83901	broad.mit.edu	37	17	39394532	39394532	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:39394532C>T	ENST00000254072.6	+	1	236	c.229C>T	c.(229-231)Cag>Tag	p.Q77*		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	77	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			ACCCTGCTGTCAGCCCACCTG	0.617000													32	114					0	0	0.769981	0	0
CYLC1	1538	broad.mit.edu	37	X	83127989	83127989	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:83127989C>A	ENST00000329312.4	+	4	310	c.273C>A	c.(271-273)taC>taA	p.Y91*		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	91					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CACCCATTTACACAGCTGCCA	0.373000													9	13					1.58986e-06	1.86892e-06	0.361761	1	0
MCHR2	84539	broad.mit.edu	37	6	100390892	100390892	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:100390892C>A	ENST00000281806.2	-	4	834	c.520G>T	c.(520-522)Gtc>Ttc	p.V174F	MCHR2_ENST00000369212.1_Missense_Mutation_p.V174F|MCHR2_ENST00000445970.1_Missense_Mutation_p.V174F	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	174						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AATTTGATGACCTTCGAGTAG	0.443000													54	57					4.83215e-14	7.0073e-14	0.870114	1	0
HS3ST1	9957	broad.mit.edu	37	4	11401447	11401447	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:11401447G>T	ENST00000002596.5	-	2	1357	c.183C>A	c.(181-183)ggC>ggA	p.G61G		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	61						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CCTTGCGCACGCCGATGATGA	0.677000													23	38					1.64293e-13	2.36899e-13	0.654019	1	0
OR4F17	81099	broad.mit.edu	37	19	110702	110702	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:110702G>T	ENST00000585993.1	+	2	163	c.24G>T	c.(22-24)ctG>ctT	p.L8L	OR4F17_ENST00000318050.3_Silent_p.L8L			Q8NGA8	O4F17_HUMAN	olfactory receptor, family 4, subfamily F, member 17	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(2)	2		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		TCATTTTTCTGGGTCTCTCTG	0.393000													45	408					5.34276e-22	8.91627e-22	0.870114	1	0
FMR1NB	158521	broad.mit.edu	37	X	147062998	147062998	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:147062998C>A	ENST00000370467.3	+	1	150	c.76C>A	c.(76-78)Ctg>Atg	p.L26M		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	26						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TCACTTAGAGCTGGCAACTTA	0.597000													36	18					2.47316e-13	3.53606e-13	0.779181	1	0
TAB2	23118	broad.mit.edu	37	6	149699609	149699609	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:149699609G>T	ENST00000367456.1	+	4	1135	c.558G>T	c.(556-558)caG>caT	p.Q186H	TAB2_ENST00000536230.1_Missense_Mutation_p.Q154H|TAB2_ENST00000392282.1_Missense_Mutation_p.Q186H|TAB2_ENST00000538427.1_Missense_Mutation_p.Q186H|TAB2_ENST00000286332.5_Missense_Mutation_p.Q186H			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	186					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|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	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						CAAATATCCAGACTGGTCGTA	0.403000													30	47					5.77227e-19	9.23926e-19	0.729181	1	0
BBOX1	8424	broad.mit.edu	37	11	27141304	27141304	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:27141304C>A	ENST00000263182.3	+	7	1116	c.748C>A	c.(748-750)Cag>Aag	p.Q250K	BBOX1_ENST00000527505.1_3'UTR|BBOX1_ENST00000528583.1_Missense_Mutation_p.Q250K|RP11-1L12.3_ENST00000530430.1_RNA|BBOX1_ENST00000529202.1_Missense_Mutation_p.Q250K|RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000525090.1_Missense_Mutation_p.Q250K	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	250					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	TCAGGCATTCCAGATTTTGTC	0.348000													20	20					2.21704e-12	3.04992e-12	0.639603	1	0
ZNF804A	91752	broad.mit.edu	37	2	185798438	185798438	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:185798438G>T	ENST00000302277.6	+	3	958	c.364G>T	c.(364-366)Gag>Tag	p.E122*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	122						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAAGCTGGCTGAGCTAAGAAA	0.408000													6	35					0.00198382	0.00208199	0.248553	1	0
GC	2638	broad.mit.edu	37	4	72629540	72629540	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:72629540G>T	ENST00000273951.8	-	5	930	c.587C>A	c.(586-588)aCt>aAt	p.T196N	GC_ENST00000504199.1_Missense_Mutation_p.T215N|GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Missense_Mutation_p.T196N	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	196	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	AAAGCATACAGTTGGGCTTGC	0.358000													41	78					2.95478e-19	4.77454e-19	0.840704	1	0
PHOX2B	8929	broad.mit.edu	37	4	41747870	41747870	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:41747870C>G	ENST00000226382.2	-	3	1258	c.899G>C	c.(898-900)aGa>aCa	p.R300T		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	300					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						ACCGTTGGGTCTTTGGAGCGA	0.687000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				14	16					0	0	0.520397	0	0
CADM3	57863	broad.mit.edu	37	1	159161822	159161822	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:159161822G>C	ENST00000368125.4	+	2	342	c.185G>C	c.(184-186)tGg>tCg	p.W62S	CADM3_ENST00000368124.4_Missense_Mutation_p.W96S	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	62	Ig-like V-type.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TCCCTGCAATGGTCTAACCCT	0.522000													8	40					0	0	0.278610	0	0
NPR3	4883	broad.mit.edu	37	5	32780843	32780843	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:32780843T>A	ENST00000265074.8	+	5	1554	c.1211T>A	c.(1210-1212)gTg>gAg	p.V404E	NPR3_ENST00000434067.2_Missense_Mutation_p.V188E|NPR3_ENST00000415167.2_Missense_Mutation_p.V404E|NPR3_ENST00000415685.2_Missense_Mutation_p.V188E	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	404					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GCCGGGCAGGTGTCCATAGAT	0.512000													54	104					0	0	0.870114	0	0
UBASH3B	84959	broad.mit.edu	37	11	122650373	122650373	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:122650373G>T	ENST00000284273.5	+	4	946	c.571G>T	c.(571-573)Gac>Tac	p.D191Y		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	191						cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GTTTGCTGCTGACTTTGCTGC	0.547000													12	37					1.05317e-09	1.33682e-09	0.457914	1	0
MLH3	27030	broad.mit.edu	37	14	75497253	75497253	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr14:75497253A>G	ENST00000355774.2	-	9	4195	c.3980T>C	c.(3979-3981)aTt>aCt	p.I1327T	MLH3_ENST00000380968.2_Missense_Mutation_p.I273T|MLH3_ENST00000238662.7_Missense_Mutation_p.I1303T|MLH3_ENST00000544985.1_3'UTR|MLH3_ENST00000556740.1_Missense_Mutation_p.I1327T|MLH3_ENST00000556257.1_Missense_Mutation_p.I1149T	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	1327					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TACCTCCACAATACTCTTGGT	0.403000								Mismatch excision repair (MMR)					5	143					0	0	0.184627	0	0
LAMA1	284217	broad.mit.edu	37	18	6949140	6949140	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr18:6949140C>A	ENST00000389658.3	-	59	8609	c.8516G>T	c.(8515-8517)gGa>gTa	p.G2839V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2839	Laminin G-like 4.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGCAGGCCTCCTAGGTAGAA	0.473000													28	31					1.17739e-12	1.6419e-12	0.693898	1	0
NCOR2	9612	broad.mit.edu	37	12	124817787	124817787	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr12:124817787C>A	ENST00000356219.3	-	43	6820	c.6665G>T	c.(6664-6666)gGt>gTt	p.G2222V	NCOR2_ENST00000429285.2_Missense_Mutation_p.G2205V|NCOR2_ENST00000404621.1_Missense_Mutation_p.G2205V|NCOR2_ENST00000405201.1_Missense_Mutation_p.G2215V|NCOR2_ENST00000404121.2_Missense_Mutation_p.G1776V|NCOR2_ENST00000397355.1_Missense_Mutation_p.G2206V	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2226					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		ACCGTCCTCACCACCACCCAA	0.632000													15	10					5.01169e-05	5.50962e-05	0.520397	1	0
PNPLA6	10908	broad.mit.edu	37	19	7620629	7620629	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:7620629C>T	ENST00000221249.6	+	27	3390	c.2959C>T	c.(2959-2961)Cgg>Tgg	p.R987W	PNPLA6_ENST00000600737.1_Missense_Mutation_p.R1025W|PNPLA6_ENST00000545201.2_Missense_Mutation_p.R960W|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R987W|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R1035W	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1026	Patatin.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CACGAAGCAGCGGGCCCGGGA	0.662000													20	37					0	0	0.667858	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20489446	20489446	+	RNA	SNP	T	T	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr15:20489446T>C	ENST00000555186.1	+	0	434					NR_038836.1																						AGATCACCAGTGGAAAACACA	0.408000													9	115					0	0	0.361761	0	0
DLC1	10395	broad.mit.edu	37	8	13357463	13357463	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:13357463A>T	ENST00000276297.4	-	2	527	c.118T>A	c.(118-120)Ttg>Atg	p.L40M	DLC1_ENST00000316609.5_Missense_Mutation_p.L40M|DLC1_ENST00000511869.1_Missense_Mutation_p.L40M	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	40					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						CTTGCCTGCAAGCTGTCAGCT	0.448000													36	62					0	0	0.788014	0	0
GLDC	2731	broad.mit.edu	37	9	6610267	6610267	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr9:6610267G>A	ENST00000321612.6	-	4	710	c.560C>T	c.(559-561)aCa>aTa	p.T187I		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	187					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GTCCAGGCCTGTGATGTCACA	0.567000													9	8					0	0	0.307466	0	0
CCNB3	85417	broad.mit.edu	37	X	50054016	50054016	+	Silent	SNP	A	A	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:50054016A>G	ENST00000376042.1	+	6	3145	c.2847A>G	c.(2845-2847)ttA>ttG	p.L949L	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.L949L			Q8WWL7	CCNB3_HUMAN	cyclin B3	949					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	p.L949L(5)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGGAGCCATTAGCCTTACAAG	0.483000													3	49					0	0	0.115264	0	0
DIXDC1	85458	broad.mit.edu	37	11	111844948	111844948	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:111844948C>A	ENST00000440460.2	+	4	815	c.518C>A	c.(517-519)tCa>tAa	p.S173*	DIXDC1_ENST00000529225.1_Nonsense_Mutation_p.S172*|DIXDC1_ENST00000531396.1_Nonsense_Mutation_p.S173*|DIXDC1_ENST00000389821.4_3'UTR	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	173	Actin-binding.				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		ATGTCCCGATCAGGACGGGAT	0.532000													5	17					0.000602214	0.000643965	0.184627	1	0
CSMD1	64478	broad.mit.edu	37	8	3565957	3565957	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:3565957C>A	ENST00000520002.1	-	7	1543	c.988G>T	c.(988-990)Gga>Tga	p.G330*	CSMD1_ENST00000539096.1_Nonsense_Mutation_p.G330*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.G330*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.G330*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.G330*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.G330*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.G330*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	330						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTATGGCTTCCATCCTTGCTG	0.453000													10	14					0.00829132	0.00859528	0.361761	1	0
TCHHL1	126637	broad.mit.edu	37	1	152058123	152058123	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:152058123C>A	ENST00000368806.1	-	3	2099	c.2035G>T	c.(2035-2037)Gac>Tac	p.D679Y		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	679							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCAGTGAAGTCTTCATCCAGG	0.483000													39	118					7.04047e-22	1.17111e-21	0.812448	1	0
KCNB2	9312	broad.mit.edu	37	8	73849039	73849039	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:73849039C>T	ENST00000523207.1	+	3	2037	c.1449C>T	c.(1447-1449)gaC>gaT	p.D483D		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	483					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACTCCGCCGACGATAATCACC	0.512000													47	107					0	0	0.870114	0	0
BAHCC1	57597	broad.mit.edu	37	17	79411726	79411726	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:79411726C>G	ENST00000307745.7	+	12	2545	c.2545C>G	c.(2545-2547)Ccc>Gcc	p.P849A																								CCAGAACCTGCCCCCCGGCTT	0.706000													21	61					0	0	0.639603	0	0
FCGR2B	2213	broad.mit.edu	37	1	161645092	161645092	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:161645092C>A	ENST00000367962.4	+	6	933	c.806C>A	c.(805-807)cCt>cAt	p.P269H	FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000358671.5_Missense_Mutation_p.P269H|FCGR2B_ENST00000367960.5_Missense_Mutation_p.P262H|FCGR2B_ENST00000236937.9_Intron|FCGR2B_ENST00000367961.4_Missense_Mutation_p.P262H			P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	269					immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity					all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAGACCCTCCCTGAGAAACCA	0.597000			T	?	ALL								5	18					3.59834e-05	3.98164e-05	0.217242	1	0
ZIM3	114026	broad.mit.edu	37	19	57646670	57646670	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:57646670G>T	ENST00000269834.1	-	5	1420	c.1035C>A	c.(1033-1035)tcC>tcA	p.S345S		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGATTTCTGGGAAAAGGCCT	0.398000													65	56					6.25564e-26	1.07572e-25	0.870114	1	0
RBAK	57786	broad.mit.edu	37	7	5104718	5104718	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr7:5104718G>T	ENST00000396912.1	+	5	2150	c.1631G>T	c.(1630-1632)tGt>tTt	p.C544F	RBAK_ENST00000353796.3_Missense_Mutation_p.C544F|RBAK_ENST00000407184.1_Intron|RBAK_ENST00000396904.2_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	544	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TGTAATGTATGTGGAAAGTTA	0.378000													28	70					2.12542e-12	2.93181e-12	0.706142	1	0
GOLGA8DP	100132979	broad.mit.edu	37	15	22709637	22709637	+	RNA	SNP	T	T	G	rs140467724	by1000genomes	TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr15:22709637T>G	ENST00000314246.8	-	0	1147																											CCCATCTGGTTTTTGAGTTTG	0.547000													4	58					0	0	0.150653	0	0
EPHA5	2044	broad.mit.edu	37	4	66361123	66361123	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:66361123G>T	ENST00000273854.3	-	4	1649	c.1049C>A	c.(1048-1050)cCc>cAc	p.P350H	EPHA5_ENST00000511294.1_Missense_Mutation_p.P350H|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.P350H	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	350	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGCCATTGTGGGTGGATCAGA	0.453000										TSP Lung(17;0.13)			31	147					1.62565e-12	2.25464e-12	0.760397	1	0
IRX6	79190	broad.mit.edu	37	16	55360368	55360368	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr16:55360368C>T	ENST00000290552.7	+	2	1498	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	56						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CGATAGTCGACTGCTGGGCAG	0.657000													18	26					0	0	0.539581	0	0
DCLK3	85443	broad.mit.edu	37	3	36779106	36779106	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:36779106C>A	ENST00000416516.2	-	2	1535	c.1045G>T	c.(1045-1047)Gcc>Tcc	p.A349S		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	349						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						ACATTGGCGGCAATGATGCCC	0.582000													13	81					0.00010058	0.000110097	0.411799	1	0
DAW1	164781	broad.mit.edu	37	2	228754681	228754681	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:228754681G>T	ENST00000373666.2	+	3	859	c.223G>T	c.(223-225)Ggc>Tgc	p.G75C	DAW1_ENST00000309931.2_Missense_Mutation_p.G75C|DAW1_ENST00000545118.1_Missense_Mutation_p.G60C|DAW1_ENST00000472604.1_3'UTR					dynein assembly factor with WDR repeat domains 1																		AGAGAAACTCGGCCAGAACAG	0.358000													15	31					2.31682e-05	2.60899e-05	0.479597	1	0
FAM135B	51059	broad.mit.edu	37	8	139164809	139164809	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr8:139164809G>T	ENST00000395297.1	-	13	2079	c.1909C>A	c.(1909-1911)Ccc>Acc	p.P637T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	637										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGCTCAGAGGGGGTGAGTTTC	0.473000										HNSCC(54;0.14)			25	60					1.66031e-10	2.15586e-10	0.667858	1	0
COL13A1	1305	broad.mit.edu	37	10	71562455	71562455	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr10:71562455C>T	ENST00000356340.3	+	1	812	c.276C>T	c.(274-276)gtC>gtT	p.V92V	COL13A1_ENST00000398968.3_Silent_p.V92V|COL13A1_ENST00000517713.1_Silent_p.V92V|COL13A1_ENST00000398974.3_Silent_p.V92V|COL13A1_ENST00000398973.3_Silent_p.V92V|COL13A1_ENST00000354547.3_Silent_p.V92V|COL13A1_ENST00000398964.3_Silent_p.V92V|COL13A1_ENST00000520133.1_Silent_p.V92V|COL13A1_ENST00000398972.3_Silent_p.V92V|COL13A1_ENST00000520267.1_Silent_p.V92V|COL13A1_ENST00000398971.3_Silent_p.V92V|COL13A1_ENST00000398969.3_Silent_p.V92V|COL13A1_ENST00000357811.3_Silent_p.V92V|COL13A1_ENST00000398978.3_Silent_p.V92V|COL13A1_ENST00000522165.1_Silent_p.V92V|COL13A1_ENST00000398966.3_Silent_p.V92V			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	92	Nonhelical region 1 (NC1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	TGGGACGAGTCAATCAACTGC	0.652000													53	124					0	0	0.870114	0	0
DBH	1621	broad.mit.edu	37	9	136521703	136521703	+	Missense_Mutation	SNP	C	C	A	rs78512658		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr9:136521703C>A	ENST00000393056.2	+	10	1505	c.1493C>A	c.(1492-1494)aCg>aAg	p.T498K	DBH-AS1_ENST00000425189.1_RNA	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	498					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	TACCCCCAGACGCAGCTGGAG	0.632000													5	50					3.59834e-05	3.98164e-05	0.217242	1	0
XPNPEP2	7512	broad.mit.edu	37	X	128887222	128887222	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:128887222C>T	ENST00000371106.3	+	11	1297	c.1105C>T	c.(1105-1107)Cac>Tac	p.H369Y		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	369					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CAAGGCCAGCCACGTAAGTCC	0.537000													56	22					0	0	0.870114	0	0
MBD2	8932	broad.mit.edu	37	18	51729314	51729314	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr18:51729314C>A	ENST00000583046.1	-	3	918	c.861G>T	c.(859-861)tgG>tgT	p.W287C	MBD2_ENST00000256429.3_Intron|MBD2_ENST00000398398.2_3'UTR	NM_015832.4	NP_056647.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	0					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	ggcaggcttcccagagatgga	0.498000													64	88					2.20561e-19	3.57534e-19	0.870114	1	0
PTCRA	171558	broad.mit.edu	37	6	42891048	42891048	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:42891048G>T	ENST00000304672.1	+	2	423	c.342G>T	c.(340-342)gaG>gaT	p.E114D	PTCRA_ENST00000441198.1_Missense_Mutation_p.E89D|PTCRA_ENST00000446507.1_Intron	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	114						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTGGGGCTGAGGGTCACAGCA	0.622000													10	60					1.58986e-06	1.86892e-06	0.361761	1	0
KRT40	125115	broad.mit.edu	37	17	39140304	39140304	+	Silent	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:39140304C>A	ENST00000377755.4	-	1	256	c.222G>T	c.(220-222)gtG>gtT	p.V74V	KRT40_ENST00000398486.2_Silent_p.V74V			Q6A162	K1C40_HUMAN	keratin 40	74	Head.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				CACAGTTCCCCACCAAGCAGG	0.547000													108	78					6.11728e-34	1.10415e-33	0.870114	1	0
IGKV3D-20	28874	broad.mit.edu	37	2	90078094	90078094	+	RNA	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:90078094G>T	ENST00000390270.2	+	0	228																											CTCTCCTGCGGGGCCAGTCAG	0.552000													39	73					1.30998e-17	2.01445e-17	0.812448	1	0
NLRP13	126204	broad.mit.edu	37	19	56424435	56424435	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:56424435G>T	ENST00000588751.1	-	5	772	c.748C>A	c.(748-750)Ctg>Atg	p.L250M	NLRP13_ENST00000342929.3_Missense_Mutation_p.L250M			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	250	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GCCCAGTGCAGCATAGCCTGC	0.502000													31	73					5.45727e-16	8.12208e-16	0.729181	1	0
ZNF236	7776	broad.mit.edu	37	18	74617172	74617172	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr18:74617172G>T	ENST00000253159.8	+	13	2290	c.2092G>T	c.(2092-2094)Ggc>Tgc	p.G698C	ZNF236_ENST00000320610.9_Missense_Mutation_p.G700C	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	698					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TGTTTCTGCAGGCGTGCTCAA	0.393000													4	41					0.184627	0.18609	0.184627	1	0
EIF4G1	1981	broad.mit.edu	37	3	184043403	184043403	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:184043403G>A	ENST00000342981.4	+	19	3514	c.3100G>A	c.(3100-3102)Ggc>Agc	p.G1034S	EIF4G1_ENST00000319274.6_Missense_Mutation_p.G1033S|EIF4G1_ENST00000424196.1_Missense_Mutation_p.G1040S|EIF4G1_ENST00000427845.1_Missense_Mutation_p.G947S|EIF4G1_ENST00000392537.2_Missense_Mutation_p.G946S|EIF4G1_ENST00000411531.1_Missense_Mutation_p.G994S|EIF4G1_ENST00000414031.1_Missense_Mutation_p.G993S|EIF4G1_ENST00000382330.3_Missense_Mutation_p.G1040S|EIF4G1_ENST00000434061.2_Missense_Mutation_p.G838S|EIF4G1_ENST00000352767.3_Missense_Mutation_p.G1040S|EIF4G1_ENST00000350481.5_Missense_Mutation_p.G869S|EIF4G1_ENST00000435046.2_Missense_Mutation_p.G837S|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_Missense_Mutation_p.G1033S|EIF4G1_ENST00000441154.1_Missense_Mutation_p.G870S	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1033	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAAGCGTCGGGGCGGTCCTCC	0.547000													15	97					0	0	0.479597	0	0
LRRC8D	55144	broad.mit.edu	37	1	90400577	90400577	+	Silent	SNP	C	C	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:90400577C>T	ENST00000337338.5	+	3	2357	c.1950C>T	c.(1948-1950)atC>atT	p.I650I	LRRC8D_ENST00000394593.3_Silent_p.I650I	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	650						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TAGAGAGAATCCCACATGCTA	0.393000													21	70					0	0	0.592651	0	0
USP26	83844	broad.mit.edu	37	X	132160223	132160223	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:132160223G>T	ENST00000511190.1	-	6	2495	c.2026C>A	c.(2026-2028)Cct>Act	p.P676T	USP26_ENST00000406273.1_Missense_Mutation_p.P676T|USP26_ENST00000370832.1_Missense_Mutation_p.P676T	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	676					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CTGCTGGCAGGTTTACCTCCA	0.433000													48	17					2.27781e-18	3.5674e-18	0.870114	1	0
CNGA3	1261	broad.mit.edu	37	2	99013344	99013344	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:99013344A>T	ENST00000393504.1	+	8	2128	c.1711A>T	c.(1711-1713)Att>Ttt	p.I571F	CNGA3_ENST00000409937.1_Missense_Mutation_p.I575F|CNGA3_ENST00000272602.2_Missense_Mutation_p.I571F|CNGA3_ENST00000436404.2_Missense_Mutation_p.I553F	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	571					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CATCCGCAGCATTGGCTACTC	0.587000													14	119					0	0	0.479597	0	0
PTGS1	5742	broad.mit.edu	37	9	125154739	125154739	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr9:125154739G>T	ENST00000362012.2	+	11	1721	c.1716G>T	c.(1714-1716)aaG>aaT	p.K572N	PTGS1_ENST00000540753.1_Missense_Mutation_p.K510N|PTGS1_ENST00000223423.4_Missense_Mutation_p.K535N|PTGS1_ENST00000373698.5_Missense_Mutation_p.K463N	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	572					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	TCAACACCAAGACCTGTCCCT	0.582000													43	42					6.2361e-21	1.02724e-20	0.834066	1	0
RAP1GDS1	5910	broad.mit.edu	37	4	99358165	99358165	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:99358165G>A	ENST00000408927.3	+	14	1755	c.1642G>A	c.(1642-1644)Gct>Act	p.A548T	RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.A500T|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.A549T|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.A499T|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.A457T|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.A548T	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	548							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TGAGAGAAGTGCTCCTGAAAT	0.353000			T	NUP98	T-ALL								20	43					0	0	0.557998	0	0
LGALS12	85329	broad.mit.edu	37	11	63279290	63279290	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr11:63279290C>A	ENST00000415491.2	+	6	1122	c.508C>A	c.(508-510)Ctg>Atg	p.L170M	LGALS12_ENST00000394618.3_Missense_Mutation_p.L231M|LGALS12_ENST00000425950.2_Missense_Mutation_p.L161M|LGALS12_ENST00000340246.5_Missense_Mutation_p.L232M|LGALS12_ENST00000255684.5_Missense_Mutation_p.L222M	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	231	Galectin 1.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						AGTACGGGGACTGGTCTTGCA	0.522000													26	73					3.1745e-13	4.50089e-13	0.729181	1	0
TENM3	55714	broad.mit.edu	37	4	183675600	183675600	+	Silent	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:183675600G>T	ENST00000511685.1	+	22	4203	c.4080G>T	c.(4078-4080)ctG>ctT	p.L1360L	TENM3_ENST00000406950.2_Silent_p.L1360L|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		TTTATGTCCTGGATAATAATG	0.438000													9	15					1.12685e-05	1.28891e-05	0.307466	1	0
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													4	7					0	0	0.150653	0	0
SLC25A23	79085	broad.mit.edu	37	19	6458287	6458287	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr19:6458287C>A	ENST00000301454.4	-	2	311	c.205G>T	c.(205-207)Gag>Tag	p.E69*	SLC25A23_ENST00000334510.5_Nonsense_Mutation_p.E69*	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	69					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						GAAAATTCCTCCAGGTCGAGC	0.587000													18	13					3.41278e-10	4.38663e-10	0.520397	1	0
ACSF2	80221	broad.mit.edu	37	17	48551068	48551068	+	Silent	SNP	G	G	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:48551068G>A	ENST00000427954.2	+	14	1636	c.1593G>A	c.(1591-1593)gtG>gtA	p.V531V	ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000504392.1_Silent_p.V463V|ACSF2_ENST00000541920.1_Silent_p.V346V|ACSF2_ENST00000502667.1_Silent_p.V493V|ACSF2_ENST00000300441.4_Silent_p.V506V			Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	506					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCAAGATCGTGGGCCGCTCTA	0.547000													71	43					0	0	0.870114	0	0
COL12A1	1303	broad.mit.edu	37	6	75818835	75818835	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr6:75818835A>T	ENST00000322507.8	-	52	8308	c.7999T>A	c.(7999-8001)Tat>Aat	p.Y2667N	COL12A1_ENST00000416123.2_Intron|COL12A1_ENST00000345356.6_Missense_Mutation_p.Y1503N|COL12A1_ENST00000483888.2_Missense_Mutation_p.Y2667N	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2667	Nonhelical region (NC3).|TSP N-terminal.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ATAATTTCATAGCAGTCAATG	0.303000													22	29					0	0	0.608945	0	0
CENPF	1063	broad.mit.edu	37	1	214818013	214818013	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:214818013G>T	ENST00000366955.3	+	13	5268	c.5100G>T	c.(5098-5100)caG>caT	p.Q1700H		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1796					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ATGCTCAGCAGGACCTCAATC	0.423000													17	53					1.45105e-14	2.13464e-14	0.539581	1	0
APOB	338	broad.mit.edu	37	2	21225799	21225799	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:21225799C>A	ENST00000233242.1	-	29	12622	c.12495G>T	c.(12493-12495)caG>caT	p.Q4165H		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4165					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCTTGAGTCCCTGGAAACTGG	0.473000													16	91					1.15088e-07	1.3816e-07	0.500413	1	0
ARSI	340075	broad.mit.edu	37	5	149677827	149677827	+	Silent	SNP	C	C	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:149677827C>A	ENST00000328668.7	-	2	1239	c.660G>T	c.(658-660)ctG>ctT	p.L220L		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	220						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTGGCTGGCCAGGATATGGC	0.632000													16	16					3.52763e-06	4.09012e-06	0.520397	1	0
HTR6	3362	broad.mit.edu	37	1	20005550	20005550	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:20005550delC	ENST00000289753.1	+	3	1479	c.1012delC	c.(1012-1014)cafs	p.P338fs		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	338					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	CCTGCCATGTCCACGCTGTCC	0.657													22	48	---	---	---	---					
C8A	731	broad.mit.edu	37	1	57372406	57372406	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr1:57372406delT	ENST00000361249.3	+	8	1259	c.1163delT	c.(1162-1164)aafs	p.I388fs		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	388	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GAAGACAAAATAAATGTTGGT	0.413													39	145	---	---	---	---					
AC027612.3	0	broad.mit.edu	37	2	91899626	91899626	+	RNA	DEL	A	A	-			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:91899626delA	ENST00000436174.1	-	0	168																											CCAGAGGCTCAAAAAAAAAAA	0.289													4	4	---	---	---	---					
BAZ2B	29994	broad.mit.edu	37	2	160289857	160289857	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr2:160289857delT	ENST00000392783.2	-	9	1806	c.1311delA	c.(1309-1311)gcfs	p.A437fs	BAZ2B_ENST00000343439.5_Frame_Shift_Del_p.A435fs|BAZ2B_ENST00000355831.2_Frame_Shift_Del_p.A437fs|BAZ2B_ENST00000392782.1_Frame_Shift_Del_p.A435fs	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GTGATGGGAATGCCTGTTTAT	0.348													37	55	---	---	---	---					
ARHGAP31	57514	broad.mit.edu	37	3	119109712	119109713	+	Frame_Shift_Ins	INS	-	-	C			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr3:119109712_119109713insC	ENST00000264245.4	+	7	1295_1296	c.763_764insC	c.(763-765)ccgfs	p.P255fs		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	255					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	p.A255G(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGAAGCTCAAGCCCGCAGCCTG	0.579													15	54	---	---	---	---					
LRBA	987	broad.mit.edu	37	4	151412167	151412167	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr4:151412167delC	ENST00000535741.1	-	41	6824	c.6351delG	c.(6349-6351)ggfs	p.G2117fs	LRBA_ENST00000510413.1_Frame_Shift_Del_p.G2117fs|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000507224.1_Frame_Shift_Del_p.G2117fs|LRBA_ENST00000357115.3_Frame_Shift_Del_p.G2128fs			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2128						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TTCCATGCAGCCCTTCTGTAT	0.358													17	94	---	---	---	---					
VCAN	1462	broad.mit.edu	37	5	82837339	82837340	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr5:82837339_82837340delAC	ENST00000265077.3	+	8	9082_9083	c.8517_8518delAC	c.(8515-8520)ggacfs	p.GH2839fs	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Frame_Shift_Del_p.GH1852fs|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2839	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAGCCTCTGGACACACAGAGAT	0.450													8	107	---	---	---	---					
STAG3L4	64940	broad.mit.edu	37	7	66767611	66767612	+	RNA	DEL	TT	TT	-	rs12531701	by1000genomes	TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr7:66767611_66767612delTT	ENST00000416602.2	+	0	4_5					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				ACCGGACTGCTTTTTTTTTTTT	0.545													3	2	---	---	---	---					
UNC13B	10497	broad.mit.edu	37	9	35237720	35237721	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr9:35237720_35237721delCA	ENST00000378495.3	+	5	513_514	c.291_292delCA	c.(289-294)tccafs	p.ST97fs	UNC13B_ENST00000396787.1_Frame_Shift_Del_p.ST97fs|UNC13B_ENST00000378496.4_Frame_Shift_Del_p.ST97fs	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	97					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GGGAATGGTCCACATTAGAGGC	0.391													20	61	---	---	---	---					
CNTNAP3B	728577	broad.mit.edu	37	9	43849817	43849817	+	Frame_Shift_Del	DEL	A	A	-	rs4063192	by1000genomes	TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr9:43849817delA	ENST00000377564.3	+	11	2115	c.1722delA	c.(1720-1722)ctfs	p.L574fs		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	574	EGF-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						GTGACTGTCTAGGCACAGGCT	0.498													4	7	---	---	---	---					
LINC01198	101929344	broad.mit.edu	37	13	47033215	47033215	+	RNA	DEL	G	G	-			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr13:47033215delG	ENST00000595532.1	-	0	105																											CAAAATGGCCGGTAGCCACAG	0.478													30	46	---	---	---	---					
CEP128	145508	broad.mit.edu	37	14	81297530	81297531	+	Frame_Shift_Ins	INS	-	-	A			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr14:81297530_81297531insA	ENST00000555265.1	-	13	1540_1541	c.1165_1166insT	c.(1165-1167)gagfs	p.E389fs	CEP128_ENST00000216517.6_Frame_Shift_Ins_p.E389fs|CEP128_ENST00000281129.3_Frame_Shift_Ins_p.E389fs			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	389						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GTCTTTTCTCTCCATGCACCGT	0.406													42	64	---	---	---	---					
LA16c-306E5.3	0	broad.mit.edu	37	16	3546141	3546141	+	RNA	DEL	A	A	-	rs74546027		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr16:3546141delA	ENST00000574423.2	+	0	111																											actccgtctcaaaaaaaaaaa	0.557													3	5	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578475	7578475	+	Frame_Shift_Del	DEL	G	G	-	rs137852790		TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:7578475delG	ENST00000420246.2	-	5	587	c.455delC	c.(454-456)cgfs	p.P153fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.P153fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P153fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P153fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	153	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; 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.P152L(66)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.?(5)|p.P153fs*28(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P59R(1)|p.P20R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.T18fs*16(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)		GGTGCCGGGCGGGGGTGTGGA	0.612		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)			29	33	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29667523	29667527	+	Splice_Site	DEL	GACTC	GACTC	-			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr17:29667523_29667527delGACTC	ENST00000358273.4	+	47	7305_7309	c.6921_splice	c.e47-1	p.DS2308_splice	NF1_ENST00000417592.2_Splice_Site_p.DS21_splice|NF1_ENST00000444181.2_Splice_Site_p.DS101_splice|NF1_ENST00000356175.3_Splice_Site_p.DS2287_splice	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2308					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.D2308fs*11(1)|p.P2310fs*11(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCTTTGCCAGGACTCGCCTCTGCAC	0.429			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			27	32	---	---	---	---					
MBD1	4152	broad.mit.edu	37	18	47803337	47803337	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr18:47803337delC	ENST00000591416.1	-	4	688	c.257delG	c.(256-258)cafs	p.R86fs	MBD1_ENST00000349085.2_Frame_Shift_Del_p.R86fs|MBD1_ENST00000339998.6_Frame_Shift_Del_p.R86fs|MBD1_ENST00000269468.5_Frame_Shift_Del_p.R86fs|MBD1_ENST00000269471.5_Frame_Shift_Del_p.R86fs|MBD1_ENST00000347968.3_Frame_Shift_Del_p.R86fs|MBD1_ENST00000398493.1_Frame_Shift_Del_p.R86fs|MBD1_ENST00000591535.1_Frame_Shift_Del_p.R86fs|MBD1_ENST00000587605.1_Frame_Shift_Del_p.R86fs|MBD1_ENST00000585595.1_Frame_Shift_Del_p.R86fs|MBD1_ENST00000590208.1_Frame_Shift_Del_p.R86fs|MBD1_ENST00000585672.1_Frame_Shift_Del_p.R86fs|MBD1_ENST00000457839.2_Frame_Shift_Del_p.R86fs|MBD1_ENST00000436910.1_Frame_Shift_Del_p.R86fs|MBD1_ENST00000424334.2_Frame_Shift_Del_p.R112fs|MBD1_ENST00000398488.1_Frame_Shift_Del_p.R86fs|MBD1_ENST00000588937.1_Frame_Shift_Del_p.R86fs|MBD1_ENST00000398495.2_Frame_Shift_Del_p.R86fs|MBD1_ENST00000382948.5_Frame_Shift_Del_p.R86fs|MBD1_ENST00000353909.3_Frame_Shift_Del_p.R86fs			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	86					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						AGGCTTCTTTCGCTTCTTGCT	0.587													52	85	---	---	---	---					
TMEM74B	55321	broad.mit.edu	37	20	1161830	1161830	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chr20:1161830delG	ENST00000381894.3	-	2	1104	c.433delC	c.(433-435)gtfs	p.R145fs		NM_018354.1	NP_060824.1	Q9NUR3	CT046_HUMAN	transmembrane protein 74B	145						integral to membrane	protein binding										CGAGCCTCACGGGGGATGGCG	0.602													34	30	---	---	---	---					
ZNF645	158506	broad.mit.edu	37	X	22291122	22291123	+	Frame_Shift_Ins	INS	-	-	T			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:22291122_22291123insT	ENST00000323684.1	+	1	58_59	c.14_15insT	c.(13-15)cgcfs	p.R5fs		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	5						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						AACAAGATGCCTGCTGGTGAAC	0.376													28	11	---	---	---	---					
NLGN3	54413	broad.mit.edu	37	X	70389735	70389735	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:70389735delC	ENST00000374051.3	+	7	2597	c.2275delC	c.(2275-2277)ccfs	p.P760fs	NLGN3_ENST00000536169.1_Frame_Shift_Del_p.P740fs|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000358741.3_Frame_Shift_Del_p.P780fs	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	780					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					TGAGGCCGGTCCCCCCCATGA	0.677													2	4	---	---	---	---					
BCORL1	63035	broad.mit.edu	37	X	129147055	129147055	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7542-01A-21D-2063-08	TCGA-78-7542-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfbb519-695a-4b2b-8a65-0d98d8f5b76b	607858d0-6112-4240-8757-4212347fd874	g.chrX:129147055delG	ENST00000540052.1	+	3	351	c.307delG	c.(307-309)ggfs	p.G103fs	BCORL1_ENST00000303743.5_Frame_Shift_Del_p.G103fs|BCORL1_ENST00000359304.2_Frame_Shift_Del_p.G103fs|BCORL1_ENST00000488135.1_3'UTR|BCORL1_ENST00000218147.7_Frame_Shift_Del_p.G103fs	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	103					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGACTACGCTGGGAACGTGGC	0.607													39	26	---	---	---	---