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
TRMT10C	54931	broad.mit.edu	37	3	101283942	101283942	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:101283942G>C	ENST00000309922.6	+	2	471	c.317G>C	c.(316-318)aGa>aCa	p.R106T		NM_017819.2	NP_060289.2			tRNA methyltransferase 10 homolog C (S. cerevisiae)																		TTGCTTGGCAGAGAAGTACCA	0.373000													9	116					0	0	0.411799	0	0
KCND2	3751	broad.mit.edu	37	7	119915122	119915122	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:119915122G>T	ENST00000331113.4	+	1	1401	c.436G>T	c.(436-438)Gag>Tag	p.E146*		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	146					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					AGAGAACGCCGAGCGCCTGCA	0.607000													8	78					0.0477658	0.0483534	0.307466	1	0
TMEM82	388595	broad.mit.edu	37	1	16074093	16074093	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:16074093C>T	ENST00000375782.1	+	6	1136	c.998C>T	c.(997-999)tCg>tTg	p.S333L	RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	333						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCTGCCCTCGGCACCCCAG	0.607000													5	134					0	0	0.184627	0	0
LRRK2	120892	broad.mit.edu	37	12	40631899	40631899	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:40631899G>A	ENST00000298910.7	+	5	623	c.565G>A	c.(565-567)Gag>Aag	p.E189K	LRRK2_ENST00000343742.2_Missense_Mutation_p.E189K	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	189					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGTGCTGTTTGAGAGAGGTAT	0.318000													8	59					0	0	0.307466	0	0
ADIPOR2	79602	broad.mit.edu	37	12	1895205	1895205	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:1895205C>T	ENST00000357103.4	+	8	1379	c.1128C>T	c.(1126-1128)atC>atT	p.I376I		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	376					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			GTTTCATGATCGGCGGGGGCT	0.532000													7	117					0	0	0.248553	0	0
TRANK1	9881	broad.mit.edu	37	3	36896768	36896768	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:36896768C>A	ENST00000429976.2	-	12	4560	c.4313G>T	c.(4312-4314)cGc>cTc	p.R1438L	TRANK1_ENST00000428977.2_Missense_Mutation_p.R888L|TRANK1_ENST00000301807.6_Missense_Mutation_p.R888L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1438					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						GAACAGAGAGCGCAGATCGCT	0.542000													21	133					9.95505e-16	1.10271e-15	0.624587	1	0
CRB1	23418	broad.mit.edu	37	1	197390669	197390669	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:197390669G>A	ENST00000367400.3	+	6	1846	c.1711G>A	c.(1711-1713)Gag>Aag	p.E571K	CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.E502K|CRB1_ENST00000538660.1_Missense_Mutation_p.E571K|CRB1_ENST00000543483.1_Missense_Mutation_p.E270K|CRB1_ENST00000367399.2_Missense_Mutation_p.E459K|CRB1_ENST00000544212.1_Missense_Mutation_p.E52K	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	571	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GCATTTCGTGGAGGTAATATT	0.448000													6	159					0	0	0.278610	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299261	125299261	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:125299261G>T	ENST00000538699.1	-	2	727	c.647C>A	c.(646-648)aCc>aAc	p.T216N	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.T216N	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	216								p.T216I(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CAGAGCCACGGTGCCGTCGCG	0.637000													15	76					7.07596e-05	7.42396e-05	0.539581	1	0
SLC26A7	115111	broad.mit.edu	37	8	92374633	92374633	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:92374633G>C	ENST00000276609.3	+	12	1606	c.1367G>C	c.(1366-1368)gGa>gCa	p.G456A	SLC26A7_ENST00000309536.2_Missense_Mutation_p.G456A|SLC26A7_ENST00000523719.1_Missense_Mutation_p.G456A|SLC26A7_ENST00000520249.1_3'UTR	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	456						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GCCAATGTGGGACTGCTGTTT	0.393000													27	302					0	0	0.788014	0	0
SLC26A11	284129	broad.mit.edu	37	17	78220397	78220397	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:78220397G>A	ENST00000361193.3	+	13	1523	c.1243G>A	c.(1243-1245)Gtg>Atg	p.V415M	SLC26A11_ENST00000572725.1_Missense_Mutation_p.V415M|SLC26A11_ENST00000411502.3_Missense_Mutation_p.V415M|SLC26A11_ENST00000546047.2_Missense_Mutation_p.V415M	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	415				V -> A (in Ref. 2; AAO26673).		endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CATCATGGCCGTGGCCCCGCT	0.592000													4	60					0	0	0.150653	0	0
PLGRKT	55848	broad.mit.edu	37	9	5358254	5358254	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:5358254G>C	ENST00000223864.2	-	6	650	c.429C>G	c.(427-429)ttC>ttG	p.F143L		NM_018465.3	NP_060935.2	Q9HBL7	CI046_HUMAN	plasminogen receptor, C-terminal lysine transmembrane protein	143						integral to membrane											TGTCTATGAAGAATCTACTCT	0.338000													6	112					0	0	0.307466	0	0
WDR41	55255	broad.mit.edu	37	5	76736796	76736796	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:76736796C>A	ENST00000296679.4	-	9	1099	c.724G>T	c.(724-726)Gtc>Ttc	p.V242F	WDR41_ENST00000414719.2_5'UTR|WDR41_ENST00000507029.1_Missense_Mutation_p.V187F	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	242										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		AGCTCTCCGACGTGGGAGCCG	0.458000													5	48					0.014758	0.0149658	0.184627	1	0
CHD7	55636	broad.mit.edu	37	8	61749458	61749458	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:61749458G>A	ENST00000423902.2	+	17	4551	c.4072G>A	c.(4072-4074)Gat>Aat	p.D1358N	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1358	Helicase C-terminal.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ACCTGATTCTGATAGGTTTGT	0.483000													53	198					0	0	0.870114	0	0
KIAA1524	57650	broad.mit.edu	37	3	108273331	108273331	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:108273331T>C	ENST00000295746.8	-	18	2292	c.2216A>G	c.(2215-2217)gAa>gGa	p.E739G	KIAA1524_ENST00000491772.1_Missense_Mutation_p.E580G	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	739						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTCAGTACTTTCATTTCTGAA	0.323000													2	8					0	0	0.115264	0	0
CLASRP	11129	broad.mit.edu	37	19	45563675	45563675	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:45563675G>A	ENST00000544944.2	+	8	1431	c.739G>A	c.(739-741)Gag>Aag	p.E247K	CLASRP_ENST00000221455.3_Missense_Mutation_p.E247K|CLASRP_ENST00000391953.4_Missense_Mutation_p.E185K			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	247					mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GGAGGAGGCAGAGGCCATCAA	0.587000													8	105					0	0	0.361761	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751513	140751513	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:140751513C>T	ENST00000576222.1	+	1	1683	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCGCGCAGCGAGCCTTCGA	0.677000													5	73					0	0	0.217242	0	0
MAGI3	260425	broad.mit.edu	37	1	114128166	114128166	+	Silent	SNP	T	T	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:114128166T>G	ENST00000369615.1	+	4	773	c.711T>G	c.(709-711)ccT>ccG	p.P237P	MAGI3_ENST00000369611.4_Silent_p.P237P|MAGI3_ENST00000369617.4_Silent_p.P237P|MAGI3_ENST00000307546.9_Silent_p.P237P	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	237	Guanylate kinase-like.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTCTCTTCCTGAAGAGGAAG	0.383000													11	57					0	0	0.411799	0	0
C7orf34	135927	broad.mit.edu	37	7	142636653	142636653	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:142636653G>A	ENST00000409607.3	+	1	51	c.10G>A	c.(10-12)Gag>Aag	p.E4K		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	0						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					AATGGGGCAGGAGGTGCACGG	0.627000													5	36					0	0	0.248553	0	0
POMGNT1	55624	broad.mit.edu	37	1	46661728	46661728	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:46661728C>T	ENST00000396420.3	-	5	1012	c.376G>A	c.(376-378)Gag>Aag	p.E126K	POMGNT1_ENST00000371986.3_Missense_Mutation_p.E126K|POMGNT1_ENST00000371992.1_Missense_Mutation_p.E126K|POMGNT1_ENST00000535522.1_Missense_Mutation_p.E104K|POMGNT1_ENST00000371984.3_Missense_Mutation_p.E126K			Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	126					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					CGGCCCTGCTCCCGGGCCTCA	0.572000													6	90					0	0	0.217242	0	0
MFGE8	4240	broad.mit.edu	37	15	89442994	89442994	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:89442994C>A	ENST00000539437.1	-	8	1031	c.895G>T	c.(895-897)Gcc>Tcc	p.A299S	MFGE8_ENST00000268151.7_Intron|MFGE8_ENST00000566497.1_Missense_Mutation_p.A307S|MFGE8_ENST00000268150.8_Missense_Mutation_p.A307S|MFGE8_ENST00000542878.1_Missense_Mutation_p.A263S			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	307	F5/8 type C 2.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					AAGTTACGGGCCCCCTGGGTG	0.542000													7	50					8.12818e-05	8.51243e-05	0.248553	1	0
LARP4	113251	broad.mit.edu	37	12	50829320	50829320	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:50829320C>T	ENST00000398473.2	+	5	560	c.448C>T	c.(448-450)Cag>Tag	p.Q150*	LARP4_ENST00000518444.1_Nonsense_Mutation_p.Q149*|LARP4_ENST00000347328.5_Nonsense_Mutation_p.Q150*|LARP4_ENST00000293618.8_Nonsense_Mutation_p.Q150*|LARP4_ENST00000429001.3_Nonsense_Mutation_p.Q156*|LARP4_ENST00000518561.1_Nonsense_Mutation_p.Q80*|LARP4_ENST00000522085.1_Nonsense_Mutation_p.Q150*	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	150	HTH La-type RNA-binding.						nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GGATAGTGATCAGTTCATCCC	0.299000													5	47					0	0	0.278610	0	0
SMO	6608	broad.mit.edu	37	7	128845541	128845541	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:128845541G>T	ENST00000249373.3	+	4	1118	c.838G>T	c.(838-840)Ggc>Tgc	p.G280C		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	280					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GGGCAGCATTGGCTGGCTGGC	0.582000			Mis		skin basal cell								19	79					4.26978e-12	4.70247e-12	0.654019	1	0
NLK	51701	broad.mit.edu	37	17	26449721	26449721	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:26449721G>A	ENST00000407008.3	+	2	1269	c.551G>A	c.(550-552)cGg>cAg	p.R184Q		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	184	Protein kinase.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGGGTCTTCCGGGAATTGAAG	0.393000													7	90					0	0	0.278610	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561190	145561190	+	Missense_Mutation	SNP	C	C	T	rs80055280	by1000genomes	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:145561190C>T	ENST00000355594.4	+	10	965	c.878C>T	c.(877-879)cCg>cTg	p.P293L		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	293										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GATGAAGACCCGTGCTCGGAG	0.547000													6	49					0	0	0.248553	0	0
MCM10	55388	broad.mit.edu	37	10	13225055	13225055	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:13225055G>A	ENST00000378694.1	+	7	1128	c.1053G>A	c.(1051-1053)ggG>ggA	p.G351G	MCM10_ENST00000484800.2_Silent_p.G352G|MCM10_ENST00000378714.3_Silent_p.G351G			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	352					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CTGTCGTAGGGATCCTCAATG	0.463000													14	123					0	0	0.539581	0	0
TBX15	6913	broad.mit.edu	37	1	119427557	119427557	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:119427557C>T	ENST00000369429.3	-	8	1616	c.1607G>A	c.(1606-1608)aGc>aAc	p.S536N	TBX15_ENST00000207157.3_Missense_Mutation_p.S430N			Q96SF7	TBX15_HUMAN	T-box 15	536						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TTGAGAGGCGCTCAGTTTTTC	0.522000													4	43					0	0	0.184627	0	0
TXNDC11	51061	broad.mit.edu	37	16	11824584	11824584	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:11824584C>G	ENST00000356957.3	-	4	723	c.616G>C	c.(616-618)Gag>Cag	p.E206Q	TXNDC11_ENST00000283033.5_Missense_Mutation_p.E206Q			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	206	Thioredoxin 1.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ACAAACTTCTCAATGTAAACA	0.343000													5	115					0	0	0.184627	0	0
PARP1	142	broad.mit.edu	37	1	226564877	226564877	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:226564877C>T	ENST00000366794.5	-	13	2016	c.1873G>A	c.(1873-1875)Gct>Act	p.A625T		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	625					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	p.A625T(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GAGTGCCAAGCGTTCCCGGTT	0.458000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					84	241					0	0	0.870114	0	0
CCDC121	79635	broad.mit.edu	37	2	27850025	27850025	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:27850025C>G	ENST00000324364.3	-	2	822	c.642G>C	c.(640-642)caG>caC	p.Q214H	CCDC121_ENST00000394775.3_Missense_Mutation_p.Q376H|ZNF512_ENST00000556601.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	214										breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					CCGTTAGTTTCTGGGCTTGCT	0.478000													9	38					0	0	0.307466	0	0
CALCR	799	broad.mit.edu	37	7	93108727	93108727	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:93108727C>T	ENST00000359558.2	-	5	497	c.198G>A	c.(196-198)atG>atA	p.M66I	CALCR_ENST00000360249.4_Missense_Mutation_p.M48I|CALCR_ENST00000421592.1_Missense_Mutation_p.M48I|CALCR_ENST00000426151.1_Missense_Mutation_p.M48I|CALCR_ENST00000394441.1_Missense_Mutation_p.M48I	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	48					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GTGCATCCATCATCTTCTTTC	0.413000													16	209					0	0	0.624587	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27900720	27900720	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:27900720G>A	ENST00000326019.6	+	8	1974	c.1692G>A	c.(1690-1692)ctG>ctA	p.L564L		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	564						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					CTTTTGAACTGAGGAAAGAAC	0.358000													10	68					0	0	0.387290	0	0
SBF2	81846	broad.mit.edu	37	11	9851008	9851008	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:9851008C>T	ENST00000256190.8	-	28	3825	c.3688G>A	c.(3688-3690)Gaa>Aaa	p.E1230K		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1230	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TTCTCTTGTTCTATGCTACTG	0.378000													5	93					0	0	0.248553	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150131673	150131673	+	Silent	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:150131673C>G	ENST00000369124.4	+	6	1463	c.1185C>G	c.(1183-1185)ctC>ctG	p.L395L	PLEKHO1_ENST00000025469.6_Silent_p.L361L|PLEKHO1_ENST00000369126.1_Silent_p.L212L	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	395	Negative regulator of AP-1 activity.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTCCCACCTCAGACAGACCA	0.587000													8	41					0	0	0.361761	0	0
ZNF407	55628	broad.mit.edu	37	18	72343115	72343115	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr18:72343115C>T	ENST00000299687.5	+	1	140	c.140C>T	c.(139-141)tCt>tTt	p.S47F	ZNF407_ENST00000309902.6_Missense_Mutation_p.S47F|ZNF407_ENST00000582337.1_Missense_Mutation_p.S47F|ZNF407_ENST00000577538.1_Missense_Mutation_p.S47F	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CCTGAGAATTCTATGGGCAAA	0.388000													3	33					0	0	0.115264	0	0
NBN	4683	broad.mit.edu	37	8	90990452	90990452	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:90990452C>T	ENST00000265433.3	-	5	734	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	NBN_ENST00000409330.1_Missense_Mutation_p.E112K	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	194					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ATATACCTTTCAATTTGTGGA	0.323000								Homologous recombination					5	71					0	0	0.184627	0	0
NUP107	57122	broad.mit.edu	37	12	69121157	69121157	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:69121157G>C	ENST00000229179.4	+	20	2054	c.1722G>C	c.(1720-1722)aaG>aaC	p.K574N	NUP107_ENST00000378905.2_Missense_Mutation_p.K423N|NUP107_ENST00000539906.1_Missense_Mutation_p.K545N	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	574					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AAGTTTTAAAGACATACATAC	0.269000													4	83					0	0	0.184627	0	0
GCNT4	51301	broad.mit.edu	37	5	74325759	74325759	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:74325759C>A	ENST00000322348.4	-	1	965	c.104G>T	c.(103-105)aGa>aTa	p.R35I		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	35					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		AAAGAGTCGTCTCACATTTAG	0.368000													6	223					0.000274275	0.000283631	0.307466	1	0
INTS3	65123	broad.mit.edu	37	1	153701226	153701226	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:153701226C>T	ENST00000318967.2	+	1	684	c.116C>T	c.(115-117)tCa>tTa	p.S39L	INTS3_ENST00000435409.2_Missense_Mutation_p.S39L|INTS3_ENST00000456435.1_5'UTR	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	39					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGCTACTTTCAACCAGTTTG	0.607000													9	165					0	0	0.361761	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543034	182543034	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:182543034G>A	ENST00000295108.3	-	2	1011	c.554C>T	c.(553-555)gCg>gTg	p.A185V	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	185				A -> G (in Ref. 2; BAA11558 and 5; BAA87605).	amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CAGGCAGCCCGCAACCAGGTT	0.612000													6	59					0	0	0.217242	0	0
DENND1B	163486	broad.mit.edu	37	1	197641247	197641247	+	Silent	SNP	T	T	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:197641247T>G	ENST00000235453.4	-	6	463	c.186A>C	c.(184-186)gtA>gtC	p.V62V	DENND1B_ENST00000367396.3_Silent_p.V72V|DENND1B_ENST00000400967.2_Silent_p.V62V			Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	72	UDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						TGTCTGTCAGTACAAAGGTAA	0.358000													9	43					0	0	0.387290	0	0
NPAS4	266743	broad.mit.edu	37	11	66188815	66188815	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:66188815C>G	ENST00000311034.2	+	1	341	c.165C>G	c.(163-165)ttC>ttG	p.F55L		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	55					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						AGGGCGTCTTCTTCGCTGGTG	0.647000													3	65					0	0	0.115264	0	0
GYS1	2997	broad.mit.edu	37	19	49481235	49481235	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:49481235C>G	ENST00000323798.3	-	10	1450	c.1254G>C	c.(1252-1254)aaG>aaC	p.K418N	GYS1_ENST00000263276.6_Missense_Mutation_p.K354N|GYS1_ENST00000544287.1_Missense_Mutation_p.K51N|GYS1_ENST00000541188.1_Missense_Mutation_p.K338N|GYS1_ENST00000540532.1_3'UTR	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	418					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TATCCAGCATCTTGTTCATGT	0.537000													4	115					0	0	0.184627	0	0
ZRSR2	8233	broad.mit.edu	37	X	15818001	15818001	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:15818001C>G	ENST00000307771.7	+	3	152	c.128C>G	c.(127-129)tCa>tGa	p.S43*	ZRSR2_ENST00000468028.1_3'UTR|ZRSR2_ENST00000380308.3_Nonsense_Mutation_p.S43*	NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	43					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					CTAGGACTCTCACAGAAGGAG	0.328000			"""F, S, Mis"""		"""MDS, CLL"""								5	66					0	0	0.184627	0	0
STAU1	6780	broad.mit.edu	37	20	47734330	47734330	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:47734330C>T	ENST00000371828.3	-	11	1755	c.1268G>A	c.(1267-1269)aGa>aAa	p.R423K	STAU1_ENST00000371856.2_Missense_Mutation_p.R498K|STAU1_ENST00000360426.4_Missense_Mutation_p.R417K|STAU1_ENST00000347458.5_Missense_Mutation_p.R417K|STAU1_ENST00000371792.1_Missense_Mutation_p.R415K|STAU1_ENST00000371802.1_Missense_Mutation_p.R423K|STAU1_ENST00000340954.7_Missense_Mutation_p.R417K	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	498						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TCCCTGGACTCTGGAAAGATA	0.498000													9	68					0	0	0.335167	0	0
ATP2B3	492	broad.mit.edu	37	X	152821836	152821836	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:152821836G>A	ENST00000370186.1	+	13	2570	c.2244G>A	c.(2242-2244)ctG>ctA	p.L748L	ATP2B3_ENST00000359149.3_Silent_p.L762L|ATP2B3_ENST00000263519.4_Silent_p.L762L|ATP2B3_ENST00000370181.2_Silent_p.L748L|ATP2B3_ENST00000349466.2_Silent_p.L762L|ATP2B3_ENST00000393842.1_Silent_p.L748L			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	762					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGAGGGTGCTGGCCCGGTCGT	0.652000													3	24					0	0	0.115264	0	0
ZNF582	147948	broad.mit.edu	37	19	56896256	56896256	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:56896256C>G	ENST00000301310.4	-	5	688	c.530G>C	c.(529-531)aGa>aCa	p.R177T	ZNF582_ENST00000586929.1_Missense_Mutation_p.R177T	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GAAGTCTTTTCTACATTTATT	0.328000													3	41					0	0	0.115264	0	0
GNRH1	2796	broad.mit.edu	37	8	25280738	25280738	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:25280738C>T	ENST00000276414.4	-	1	1432	c.109G>A	c.(109-111)Gat>Aat	p.D37N	GNRH1_ENST00000421054.2_Missense_Mutation_p.D37N	NM_000825.3	NP_000816.4	P01148	GON1_HUMAN	gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)	37					cell-cell signaling|multicellular organismal development|negative regulation of cell proliferation|signal transduction	soluble fraction	gonadotropin hormone-releasing hormone activity			large_intestine(1)	1		all_cancers(63;0.0423)|Ovarian(32;0.000626)|all_epithelial(46;0.0186)|Hepatocellular(4;0.114)|Breast(100;0.14)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0201)|Epithelial(17;1.25e-12)|Colorectal(74;0.0113)|COAD - Colon adenocarcinoma(73;0.0385)		TTTTCGGCATCTCTCTTTCCT	0.408000													11	142					0	0	0.435327	0	0
GEMIN8	54960	broad.mit.edu	37	X	14027076	14027076	+	Silent	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:14027076G>T	ENST00000380523.4	-	5	1003	c.685C>A	c.(685-687)Cga>Aga	p.R229R	GEMIN8_ENST00000398355.3_Silent_p.R229R	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	229					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						GGCTGCTTTCGGTCACAGTGC	0.592000													10	144					9.70103e-10	1.05629e-09	0.361761	1	0
PIK3CA	5290	broad.mit.edu	37	3	178927486	178927486	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:178927486G>A	ENST00000263967.3	+	7	1406	c.1249G>A	c.(1249-1251)Gag>Aag	p.E417K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	417	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GGGTGCTAAAGAGGTAAAGTA	0.343000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			14	91					0	0	0.479597	0	0
CUL2	8453	broad.mit.edu	37	10	35317752	35317752	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:35317752T>A	ENST00000374748.1	-	17	1916	c.1603A>T	c.(1603-1605)Aaa>Taa	p.K535*	CUL2_ENST00000602371.1_Nonsense_Mutation_p.K478*|CUL2_ENST00000374751.3_Nonsense_Mutation_p.K535*|CUL2_ENST00000537177.1_Nonsense_Mutation_p.K554*|CUL2_ENST00000374749.3_Nonsense_Mutation_p.K535*|CUL2_ENST00000374746.1_Nonsense_Mutation_p.K535*|CUL2_ENST00000374742.1_Nonsense_Mutation_p.K535*			Q13617	CUL2_HUMAN	cullin 2	535					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TGTACACTTTTTTCTAATTCC	0.323000													3	39					0	0	0.115264	0	0
TOPBP1	11073	broad.mit.edu	37	3	133368327	133368327	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:133368327C>T	ENST00000260810.5	-	10	1535	c.1404G>A	c.(1402-1404)aaG>aaA	p.K468K	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	468					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AGCTGCTGTTCTTCTTTTTTA	0.388000								Other conserved DNA damage response genes					4	113					0	0	0.150653	0	0
ATF7	11016	broad.mit.edu	37	12	53994749	53994749	+	Silent	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:53994749C>A	ENST00000420353.2	-	2	185	c.36G>T	c.(34-36)ccG>ccT	p.P12P	ATF7_ENST00000415113.1_Silent_p.P12P|ATF7_ENST00000328463.7_Silent_p.P12P|ATF7_ENST00000591397.1_Silent_p.P12P|ATF7_ENST00000548118.2_Silent_p.P12P|RP11-793H13.10_ENST00000591834.1_Silent_p.P12P|ATF7_ENST00000548446.2_Silent_p.P12P|ATF7_ENST00000456903.4_Silent_p.P12P	NM_006856.2	NP_006847.1	P17544	ATF7_HUMAN	activating transcription factor 7	12	Transactivation domain.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						GTCCACAGCCCGGGGCATTGC	0.433000													5	38					0.00198382	0.00202963	0.248553	1	0
BNIPL	149428	broad.mit.edu	37	1	151015532	151015532	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:151015532G>A	ENST00000295294.7	+	5	897	c.288G>A	c.(286-288)tgG>tgA	p.W96*	BNIPL_ENST00000368931.3_Nonsense_Mutation_p.W178*	NM_001159642.1	NP_001153114.1	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	178					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GACATCACTGGAGGGTGTTCC	0.542000													7	113					0	0	0.335167	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74873787	74873787	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:74873787C>T	ENST00000289575.5	+	2	499	c.104C>T	c.(103-105)cCa>cTa	p.P35L	SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000341411.4_5'UTR|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.P13L|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000525650.1_Intron|SLCO2B1_ENST00000532236.1_Intron	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	35					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	AAAGCCAGCCCAGACCCTCAG	0.592000													12	147					0	0	0.411799	0	0
PRMT8	56341	broad.mit.edu	37	12	3692332	3692332	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:3692332A>G	ENST00000382622.3	+	8	1327	c.937A>G	c.(937-939)Att>Gtt	p.I313V	PRMT8_ENST00000452611.2_Missense_Mutation_p.I304V|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	313					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CTATTTTAATATTGAATTTAC	0.478000													4	20					0	0	0.184627	0	0
VDAC2	7417	broad.mit.edu	37	10	76982062	76982062	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:76982062C>T	ENST00000535553.1	+	9	876	c.520C>T	c.(520-522)Ctt>Ttt	p.L174F	VDAC2_ENST00000332211.6_Missense_Mutation_p.L213F|VDAC2_ENST00000313132.4_Missense_Mutation_p.L228F|VDAC2_ENST00000543351.1_Missense_Mutation_p.L213F			P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	213						mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	TTGTGAAGATCTTGACACTTC	0.358000													9	97					0	0	0.387290	0	0
DNMT3A	1788	broad.mit.edu	37	2	25472526	25472526	+	Splice_Site	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:25472526C>T	ENST00000380746.4	-	2	185	c.72G>A	c.(70-72)acG>acA	p.T24T	DNMT3A_ENST00000402667.1_Intron|DNMT3A_ENST00000264709.3_Intron|DNMT3A_ENST00000321117.5_Intron	NM_153759.3	NP_715640.2	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	64					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCCTTTCACCGTATCACACT	0.502000			"""Mis, F, N, S"""		AML								16	115					0	0	0.575678	0	0
OR2W3	343171	broad.mit.edu	37	1	248059764	248059764	+	Silent	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:248059764C>A	ENST00000537741.1	+	3	1133	c.876C>A	c.(874-876)ctC>ctA	p.L292L	OR2W3_ENST00000360358.3_Silent_p.L292L			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCTACACCCTCAGAAACAGAG	0.532000													4	56					0.150653	0.151707	0.150653	1	0
ITFG3	83986	broad.mit.edu	37	16	312519	312519	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:312519T>C	ENST00000399932.3	+	8	1389	c.938T>C	c.(937-939)cTc>cCc	p.L313P	ITFG3_ENST00000450082.2_Missense_Mutation_p.L313P|ITFG3_ENST00000442458.2_Missense_Mutation_p.L313P|ITFG3_ENST00000600536.1_Missense_Mutation_p.L313P|ITFG3_ENST00000301679.2_Missense_Mutation_p.L313P|ITFG3_ENST00000301678.3_Missense_Mutation_p.L313P	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	313						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				GAGAGCATGCTCAATGCCACC	0.647000													11	88					0	0	0.457914	0	0
OR56A4	120793	broad.mit.edu	37	11	6023979	6023979	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:6023979G>C	ENST00000330728.4	-	1	445	c.400C>G	c.(400-402)Ccc>Gcc	p.P134A		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGACCTTGGGGATGACGGTG	0.567000													11	94					0	0	0.435327	0	0
VRK3	51231	broad.mit.edu	37	19	50510925	50510925	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:50510925C>T	ENST00000599538.1	-	5	1112	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000443401.2_5'UTR|VRK3_ENST00000593919.1_Missense_Mutation_p.E150K|VRK3_ENST00000377011.2_Missense_Mutation_p.E100K|VRK3_ENST00000316763.3_Missense_Mutation_p.E150K|VRK3_ENST00000594948.1_Missense_Mutation_p.E150K|VRK3_ENST00000601341.1_Missense_Mutation_p.E100K|VRK3_ENST00000594092.1_Missense_Mutation_p.E150K|VRK3_ENST00000601912.1_Missense_Mutation_p.E100K			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	150						nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GGCAAAGCTTCAAGTGAGGTG	0.582000													7	152					0	0	0.278610	0	0
BIRC6	57448	broad.mit.edu	37	2	32668572	32668572	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:32668572G>T	ENST00000421745.2	+	20	4386	c.4252G>T	c.(4252-4254)Gac>Tac	p.D1418Y		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1418					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGGCAAATGTGACCCATGTCA	0.333000													3	19					0.004672	0.0047714	0.115264	1	0
TFCP2	7024	broad.mit.edu	37	12	51500367	51500367	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:51500367G>A	ENST00000307660.4	-	7	1425	c.705C>T	c.(703-705)gtC>gtT	p.V235V	TFCP2_ENST00000548115.1_Silent_p.V235V|TFCP2_ENST00000549867.1_Silent_p.V286V|TFCP2_ENST00000257915.5_Silent_p.V286V	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2	286	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						GGGAGTTATTGACATACGTGA	0.398000													5	55					0	0	0.248553	0	0
FASTKD5	60493	broad.mit.edu	37	20	3128235	3128235	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:3128235G>C	ENST00000380266.3	-	2	1803	c.1482C>G	c.(1480-1482)ctC>ctG	p.L494L	UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	494					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ACCCTGGACTGAGAGCGAAAT	0.473000													6	74					0	0	0.217242	0	0
KRT13	3860	broad.mit.edu	37	17	39659272	39659272	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:39659272G>A	ENST00000246635.3	-	4	860	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	KRT13_ENST00000336861.3_Missense_Mutation_p.R272C|KRT13_ENST00000587544.1_Missense_Mutation_p.R272C	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	272	Linker 12.|Rod.				epidermis development	intermediate filament	structural molecule activity	p.R272S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GCCAGCACGCGGGTCAGGTCA	0.602000													45	701					0	0	0.870114	0	0
SLC27A5	10998	broad.mit.edu	37	19	59022230	59022230	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:59022230G>A	ENST00000263093.2	-	2	865	c.756C>T	c.(754-756)ctC>ctT	p.L252L	SLC27A5_ENST00000601355.1_Silent_p.L168L	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	252					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		AGGTATGGCTGAGGTAGAAGC	0.632000													3	37					0	0	0.115264	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103574805	103574805	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:103574805G>T	ENST00000380069.3	+	10	2003	c.1927G>T	c.(1927-1929)Gac>Tac	p.D643Y		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	643										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CTACAAAGATGACATCCAGCG	0.602000													21	315					7.41877e-09	8.01729e-09	0.608945	1	0
IHH	3549	broad.mit.edu	37	2	219925066	219925066	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:219925066G>A	ENST00000295731.6	-	1	123	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog						cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACGAGTTTGCGTGGCGGTCGC	0.692000													3	47					0	0	0.115264	0	0
MYH4	4622	broad.mit.edu	37	17	10369590	10369590	+	Splice_Site	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:10369590G>A	ENST00000255381.2	-	4	458	c.348C>T	c.(346-348)taC>taT	p.Y116Y	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	116	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGGTGCTCACGTAGATCATCC	0.433000													10	93					0	0	0.457914	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70010650	70010650	+	RNA	SNP	A	A	G	rs144900726	by1000genomes	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:70010650A>G	ENST00000531894.1	-	0	3748					NR_003610.1																						AGGGCCGAAGAAGGGAATGTT	0.468000													3	104					0	0	0.150653	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744345	70744345	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:70744345G>A	ENST00000260126.4	-	2	1270	c.564C>T	c.(562-564)ttC>ttT	p.F188F	SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000530307.1_Silent_p.F188F|SLCO5A1_ENST00000524945.1_Silent_p.F188F	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1							integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCCGGCCGCCGAAGTAGCTGA	0.642000													4	76					0	0	0.217242	0	0
PLA2G3	50487	broad.mit.edu	37	22	31533774	31533774	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr22:31533774G>A	ENST00000215885.3	-	4	1240	c.988C>T	c.(988-990)Cag>Tag	p.Q330*		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	330					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						ATAGGGTCCTGGAGGGCTGTG	0.627000													12	176					0	0	0.479597	0	0
C14orf177	283598	broad.mit.edu	37	14	99183486	99183486	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:99183486G>T	ENST00000325812.2	+	4	672	c.253G>T	c.(253-255)Gaa>Taa	p.E85*		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	85										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				CCAGAGACATGAAGAAACTTC	0.453000													5	70					1.06961e-07	1.14943e-07	0.278610	1	0
XPO4	64328	broad.mit.edu	37	13	21442787	21442787	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:21442787G>C	ENST00000400602.2	-	2	158	c.123C>G	c.(121-123)ttC>ttG	p.F41L	XPO4_ENST00000490513.1_5'UTR|XPO4_ENST00000255305.6_Missense_Mutation_p.F41L	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	41					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TAAATGATAAGAATATGTGCT	0.338000													7	195					0	0	0.307466	0	0
TRAK1	22906	broad.mit.edu	37	3	42226284	42226284	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:42226284C>T	ENST00000327628.5	+	4	871	c.471C>T	c.(469-471)atC>atT	p.I157I	TRAK1_ENST00000396175.1_Silent_p.I99I|TRAK1_ENST00000449246.1_Silent_p.I83I|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Silent_p.I99I	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	157	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TGGAACACATCAGGGAGGAGG	0.582000													10	165					0	0	0.387290	0	0
APBB1IP	54518	broad.mit.edu	37	10	26800720	26800720	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:26800720G>A	ENST00000376236.4	+	7	1031	c.576G>A	c.(574-576)ctG>ctA	p.L192L		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	192	Ras-associating.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CAAAGTCACTGATGGTGGATG	0.473000													6	127					0	0	0.278610	0	0
AMBN	258	broad.mit.edu	37	4	71468378	71468378	+	Splice_Site	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:71468378C>T	ENST00000322937.6	+	7	672	c.569C>T	c.(568-570)tCa>tTa	p.S190L	AMBN_ENST00000449493.2_Splice_Site_p.S175L	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	190					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			CAAGGTCCATCAGTAAGTACA	0.259000													5	95					0	0	0.307466	0	0
AKAP8L	26993	broad.mit.edu	37	19	15508413	15508413	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:15508413C>T	ENST00000397410.5	-	11	1453	c.1323G>A	c.(1321-1323)aaG>aaA	p.K441K	AKAP8L_ENST00000595465.2_Silent_p.K380K|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like							cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCTCTGTCTTCTTGGTCTTGT	0.502000													5	38					0	0	0.248553	0	0
OR7C1	26664	broad.mit.edu	37	19	14910386	14910386	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:14910386G>A	ENST00000248073.2	-	1	637	c.563C>T	c.(562-564)gCc>gTc	p.A188V	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	188					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						GTCAGAACAGGCGAGCTTCAG	0.423000													8	113					0	0	0.387290	0	0
TEKT4	150483	broad.mit.edu	37	2	95537570	95537570	+	Silent	SNP	C	C	T	rs66467545	byFrequency	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:95537570C>T	ENST00000295201.4	+	1	383	c.246C>T	c.(244-246)cgC>cgT	p.R82R	AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Silent_p.R82R	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	82					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						TGGCGCAGCGCACGCAGCAAG	0.692000													4	24					0	0	0.248553	0	0
MYH9	4627	broad.mit.edu	37	22	36712697	36712697	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr22:36712697C>T	ENST00000216181.5	-	12	1475	c.1245G>A	c.(1243-1245)gaG>gaA	p.E415E		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	415	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGCCAAGGCCTCGATGGCAA	0.577000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				5	59					0	0	0.217242	0	0
OR4N4	283694	broad.mit.edu	37	15	22383258	22383258	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:22383258C>T	ENST00000328795.4	+	1	877	c.786C>T	c.(784-786)ttC>ttT	p.F262F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGTGCCCTTTCAGGGCCTTAC	0.433000													5	136					0	0	0.335167	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109765026	109765026	+	RNA	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:109765026T>C	ENST00000602699.1	+	0	1487					NR_002718.2																						GATGATCATTTGTTAGTTGCC	0.363000													5	13					0	0	0.184627	0	0
CNTN3	5067	broad.mit.edu	37	3	74535680	74535680	+	Silent	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:74535680T>C	ENST00000263665.6	-	3	312	c.285A>G	c.(283-285)acA>acG	p.T95T		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	95	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GGTAAGTTCCTGTATCCCAAT	0.373000													5	88					0	0	0.248553	0	0
TNFAIP8	25816	broad.mit.edu	37	5	118728967	118728967	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:118728967C>T	ENST00000504771.2	+	2	2265	c.488C>T	c.(487-489)tCa>tTa	p.S163L	TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000504642.1_Missense_Mutation_p.S165L|TNFAIP8_ENST00000503646.1_Missense_Mutation_p.S163L|TNFAIP8_ENST00000513374.1_Missense_Mutation_p.S175L|TNFAIP8_ENST00000274456.6_Missense_Mutation_p.S153L	NM_014350.2	NP_055165.2	O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	163					anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		GATCATTTTTCAGATTGTGAA	0.388000													7	122					0	0	0.248553	0	0
FUK	197258	broad.mit.edu	37	16	70500855	70500855	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:70500855C>T	ENST00000288078.6	+	6	714	c.482C>T	c.(481-483)cCt>cTt	p.P161L	FUK_ENST00000428974.2_Missense_Mutation_p.P144L|FUK_ENST00000378912.2_Missense_Mutation_p.P193L|FUK_ENST00000571514.1_Intron	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	161						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CCTGCAAATCCTGGTGAGCCT	0.647000													9	77					0	0	0.361761	0	0
SLMAP	7871	broad.mit.edu	37	3	57908654	57908654	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:57908654G>A	ENST00000295951.3	+	21	3464	c.2247G>A	c.(2245-2247)ttG>ttA	p.L749L	SLMAP_ENST00000495364.1_Silent_p.L300L|SLMAP_ENST00000295952.3_Silent_p.L749L|SLMAP_ENST00000449503.2_Silent_p.L728L|SLMAP_ENST00000442599.2_Silent_p.L234L|SLMAP_ENST00000428312.1_Silent_p.L766L|SLMAP_ENST00000494088.1_Silent_p.L259L			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	766					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		AACTGAAGTTGAAGTTTGAAA	0.368000													4	77					0	0	0.150653	0	0
TRPM5	29850	broad.mit.edu	37	11	2427915	2427915	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:2427915T>C	ENST00000452833.1	-	21	3241	c.3233A>G	c.(3232-3234)gAg>gGg	p.E1078G	TRPM5_ENST00000155858.6_Missense_Mutation_p.E1076G|TRPM5_ENST00000528453.1_Missense_Mutation_p.E1076G|AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000533060.1_Missense_Mutation_p.E1076G			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	1076						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCGCAGCACCTCCCCCTCGCT	0.622000													4	222					0	0	0.184627	0	0
EYA1	2138	broad.mit.edu	37	8	72234077	72234077	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:72234077G>A	ENST00000340726.3	-	6	949	c.310C>T	c.(310-312)Caa>Taa	p.Q104*	EYA1_ENST00000388743.2_Nonsense_Mutation_p.Q103*|EYA1_ENST00000388742.4_Nonsense_Mutation_p.Q104*|EYA1_ENST00000388740.3_Nonsense_Mutation_p.Q71*|EYA1_ENST00000303824.7_Nonsense_Mutation_p.Q103*|EYA1_ENST00000388741.2_Nonsense_Mutation_p.Q70*|EYA1_ENST00000419131.1_Nonsense_Mutation_p.Q104*	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	104					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GCCATAGTTTGTGAGGAAGGG	0.468000													5	166					0	0	0.248553	0	0
MTDH	92140	broad.mit.edu	37	8	98718973	98718973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:98718973C>T	ENST00000336273.3	+	8	1595	c.1267C>T	c.(1267-1269)Caa>Taa	p.Q423*	MTDH_ENST00000519934.1_Nonsense_Mutation_p.Q367*	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	423	Lung-homing for mammary tumors (By similarity).				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			TCCTGATGATCAAAAGGTGAG	0.463000													8	209					0	0	0.307466	0	0
HPD	3242	broad.mit.edu	37	12	122287616	122287616	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:122287616G>A	ENST00000543163.1	-	9	823	c.378C>T	c.(376-378)ttC>ttT	p.F126F	HPD_ENST00000543869.2_5'UTR|HPD_ENST00000289004.4_Silent_p.F165F	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	165					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	GGGGGTCCATGAACGCTGGGG	0.547000													3	70					0	0	0.184627	0	0
SCN8A	6334	broad.mit.edu	37	12	52077988	52077988	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:52077988C>G	ENST00000354534.6	+	3	485	c.307C>G	c.(307-309)Ctc>Gtc	p.L103V	SCN8A_ENST00000550891.1_Missense_Mutation_p.L103V|SCN8A_ENST00000545061.1_Missense_Mutation_p.L103V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AGGGAAAACTCTCTTCAGATT	0.343000													3	64					0	0	0.184627	0	0
OR5K2	402135	broad.mit.edu	37	3	98217064	98217064	+	Silent	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:98217064T>C	ENST00000427338.1	+	1	617	c.540T>C	c.(538-540)gaT>gaC	p.D180D	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTTACTGTGATACTCTTCCCT	0.403000													13	272					0	0	0.500413	0	0
ADSL	158	broad.mit.edu	37	22	40755278	40755278	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr22:40755278C>G	ENST00000216194.7	+	6	725	c.669C>G	c.(667-669)gaC>gaG	p.D223E	ADSL_ENST00000480775.1_3'UTR|ADSL_ENST00000454266.2_Missense_Mutation_p.D237E|ADSL_ENST00000342312.6_Missense_Mutation_p.D223E	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	223					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						AGCAGCTTGACAAGATGGTGA	0.443000													13	186					0	0	0.520397	0	0
CHD1	1105	broad.mit.edu	37	5	98209411	98209411	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:98209411G>A	ENST00000284049.3	-	25	3606	c.3457C>T	c.(3457-3459)Cga>Tga	p.R1153*		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1153					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCAGCATCTCGAGCAATTGCA	0.338000													10	90					0	0	0.361761	0	0
LATS1	9113	broad.mit.edu	37	6	150005691	150005691	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:150005691C>T	ENST00000543571.1	-	4	1081	c.534G>A	c.(532-534)tgG>tgA	p.W178*	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Nonsense_Mutation_p.W178*|LATS1_ENST00000392273.3_Nonsense_Mutation_p.W178*	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	178					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TAGAACCTTTCCAGCTCTGTT	0.408000													3	74					0	0	0.217242	0	0
RANBP6	26953	broad.mit.edu	37	9	6012658	6012658	+	Missense_Mutation	SNP	T	T	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:6012658T>G	ENST00000259569.5	-	1	2960	c.2950A>C	c.(2950-2952)Ata>Cta	p.I984L		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	984					protein transport	cytoplasm|nucleus	binding	p.I984L(4)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATCTTCCCTATTGCTGAGATA	0.363000													3	82					0	0	0.184627	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552992	140552992	+	Silent	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:140552992C>G	ENST00000231137.3	+	1	750	c.576C>G	c.(574-576)ccC>ccG	p.P192P		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		192	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATATCTATCCCGAATTGGTGC	0.493000													6	84					0	0	0.248553	0	0
ATL2	64225	broad.mit.edu	37	2	38570616	38570616	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:38570616C>G	ENST00000378954.4	-	2	158	c.157G>C	c.(157-159)Gag>Cag	p.E53Q	ATL2_ENST00000402054.1_Intron|ATL2_ENST00000332337.4_Missense_Mutation_p.E35Q|ATL2_ENST00000546051.1_Intron|ATL2_ENST00000452935.2_Missense_Mutation_p.E35Q|ATL2_ENST00000406122.1_Intron|ATL2_ENST00000419554.2_Missense_Mutation_p.E53Q|ATL2_ENST00000486927.1_5'UTR|ATL2_ENST00000539122.1_Intron	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	53					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						TTCATAACCTCATCAGAATTT	0.338000													7	65					0	0	0.335167	0	0
HIST1H3H	8357	broad.mit.edu	37	6	27777942	27777942	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:27777942C>T	ENST00000369163.2	+	1	101	c.91C>T	c.(91-93)Ccg>Tcg	p.P31S		NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	31					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						GAAGAGCGCTCCGGCCACCGG	0.657000													5	67					0	0	0.217242	0	0
USP47	55031	broad.mit.edu	37	11	11977561	11977561	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:11977561G>C	ENST00000339865.5	+	27	4466	c.3703G>C	c.(3703-3705)Gaa>Caa	p.E1235Q	USP47_ENST00000399455.2_Missense_Mutation_p.E1323Q|USP47_ENST00000539466.1_Missense_Mutation_p.E105Q|USP47_ENST00000305481.6_3'UTR|USP47_ENST00000527733.1_Missense_Mutation_p.E1303Q	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1323					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TAAAACAGAAGAATTAATGGA	0.373000													3	75					0	0	0.115264	0	0
PPEF1	5475	broad.mit.edu	37	X	18822166	18822166	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:18822166G>A	ENST00000361511.4	+	14	1716	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	PPEF1_ENST00000543630.1_Intron|PPEF1_ENST00000359763.6_Missense_Mutation_p.E355K|PPEF1_ENST00000349874.5_Intron|PPEF1_ENST00000544635.1_Missense_Mutation_p.E343K	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	408	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					ATGTAAGCCCGAAGGGTATGA	0.433000													8	99					0	0	0.387290	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171765985	171765985	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:171765985G>A	ENST00000311601.5	-	13	2294	c.2124C>T	c.(2122-2124)cgC>cgT	p.R708R	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	708					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGTCCTGGGCGCGGCCAGGCC	0.627000													6	40					0	0	0.248553	0	0
GBP5	115362	broad.mit.edu	37	1	89730587	89730587	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:89730587C>G	ENST00000343435.5	-	8	1467	c.931G>C	c.(931-933)Gag>Cag	p.E311Q	GBP5_ENST00000370459.3_Missense_Mutation_p.E311Q|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	311						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		ACTGCATTCTCTATGCAAGGC	0.483000													10	78					0	0	0.435327	0	0
CLDND1	56650	broad.mit.edu	37	3	98235645	98235645	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:98235645T>C	ENST00000503004.1	-	5	1499	c.620A>G	c.(619-621)aAt>aGt	p.N207S	CLDND1_ENST00000437922.1_Missense_Mutation_p.N230S|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000341181.6_Missense_Mutation_p.N207S|CLDND1_ENST00000511081.1_Missense_Mutation_p.N112S|CLDND1_ENST00000394185.2_Missense_Mutation_p.N207S|CLDND1_ENST00000510545.1_Missense_Mutation_p.N207S|CLDND1_ENST00000513287.1_Missense_Mutation_p.N207S|CLDND1_ENST00000507874.1_Intron|CLDND1_ENST00000394181.2_Missense_Mutation_p.N207S|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000394180.2_Missense_Mutation_p.N207S			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	207						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						ACCGGATACATTGTCAGGGAG	0.478000													14	69					0	0	0.520397	0	0
TAF1L	138474	broad.mit.edu	37	9	32633737	32633737	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:32633737G>A	ENST00000242310.4	-	1	1930	c.1841C>T	c.(1840-1842)gCt>gTt	p.A614V	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	614					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.A614D(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TAATTCCATAGCAGGAATTGA	0.478000													5	167					0	0	0.217242	0	0
CRLF1	9244	broad.mit.edu	37	19	18709341	18709341	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:18709341C>T	ENST00000392386.3	-	4	791	c.598G>A	c.(598-600)Gac>Aac	p.D200N		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	200	Fibronectin type-III 1.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						AGAGCCAGGTCCTTGGGGATG	0.622000													13	148					0	0	0.557998	0	0
ZFP69B	65243	broad.mit.edu	37	1	40928137	40928137	+	Nonstop_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:40928137G>C	ENST00000484445.1	+	5	761	c.395G>C	c.(394-396)tGa>tCa	p.*132S	ZFP69B_ENST00000411995.2_Missense_Mutation_p.D161H|ZFP69B_ENST00000361584.3_Missense_Mutation_p.D59H					ZFP69 zinc finger protein B																		CTTACAGAATGATATTTCGTG	0.323000													15	162					0	0	0.479597	0	0
MFN1	55669	broad.mit.edu	37	3	179080190	179080190	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:179080190G>A	ENST00000471841.1	+	5	582	c.456G>A	c.(454-456)ttG>ttA	p.L152L	MFN1_ENST00000263969.5_Silent_p.L152L|MFN1_ENST00000280653.7_Silent_p.L152L	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	152					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			ACAAAGATTTGAAAGCTGGCT	0.383000													7	94					0	0	0.335167	0	0
COMMD9	29099	broad.mit.edu	37	11	36297736	36297736	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:36297736G>A	ENST00000263401.5	-	5	423	c.407C>T	c.(406-408)tCa>tTa	p.S136L	COMMD9_ENST00000452374.2_Missense_Mutation_p.S94L|COMMD9_ENST00000532705.1_Silent_p.L124L	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	136	COMM.									kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				GATGCTGTCTGAGGAGGTTTT	0.552000													5	92					0	0	0.217242	0	0
MEOX2	4223	broad.mit.edu	37	7	15652020	15652020	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:15652020G>A	ENST00000262041.5	-	3	1316	c.907C>T	c.(907-909)Cac>Tac	p.H303Y		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	303					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TATCATAAGTGCGCATGCTCT	0.478000													8	64					0	0	0.307466	0	0
NPY5R	4889	broad.mit.edu	37	4	164271709	164271709	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:164271709C>T	ENST00000515560.1	+	4	1806	c.284C>T	c.(283-285)tCa>tTa	p.S95L	NPY5R_ENST00000506953.1_Missense_Mutation_p.S95L|NPY5R_ENST00000338566.3_Missense_Mutation_p.S95L			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	95					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				CTGTTTTGCTCACCTTTCACA	0.408000													18	286					0	0	0.557998	0	0
CRYBB3	1417	broad.mit.edu	37	22	25599847	25599847	+	Silent	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr22:25599847C>G	ENST00000215855.2	+	4	392	c.312C>G	c.(310-312)ctC>ctG	p.L104L	CRYBB3_ENST00000404334.1_Silent_p.L104L	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	104	Beta/gamma crystallin 'Greek key' 2.				visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						TTCTGTCCCTCCGGCCTCTGA	0.582000													27	260					0	0	0.769981	0	0
TENM3	55714	broad.mit.edu	37	4	183673159	183673159	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:183673159T>C	ENST00000511685.1	+	20	3959	c.3836T>C	c.(3835-3837)gTg>gCg	p.V1279A	TENM3_ENST00000406950.2_Missense_Mutation_p.V1279A|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		GGGAAGGCCGTGGAAGCCACA	0.463000													5	23					0	0	0.217242	0	0
INTS12	57117	broad.mit.edu	37	4	106614625	106614625	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:106614625C>T	ENST00000451321.2	-	4	807	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	INTS12_ENST00000340139.5_Missense_Mutation_p.E110K|INTS12_ENST00000394735.1_Missense_Mutation_p.E110K	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	110					snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		TCAACTCCTTCAGTGATGTCT	0.378000													9	158					0	0	0.361761	0	0
CCDC141	285025	broad.mit.edu	37	2	179720159	179720159	+	Missense_Mutation	SNP	T	T	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:179720159T>A	ENST00000420890.2	-	19	3092	c.2975A>T	c.(2974-2976)aAa>aTa	p.K992I	CCDC141_ENST00000295723.5_Missense_Mutation_p.K417I	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	417							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATCCACATGTTTTTGCAAATC	0.343000													4	73					0	0	0.184627	0	0
LCP1	3936	broad.mit.edu	37	13	46708313	46708313	+	Silent	SNP	C	C	T	rs111548644		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:46708313C>T	ENST00000398576.2	-	17	1963	c.1575G>A	c.(1573-1575)gtG>gtA	p.V525V	LCP1_ENST00000323076.2_Silent_p.V525V|LCP1_ENST00000435666.2_Silent_p.V94V			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	525	Actin-binding 2.|CH 4.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		ATGTTTCATTCACCCAGTTGA	0.393000			T	BCL6	NHL								11	93					0	0	0.411799	0	0
CC2D2A	57545	broad.mit.edu	37	4	15504503	15504503	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:15504503G>A	ENST00000424120.1	+	6	649	c.395G>A	c.(394-396)cGa>cAa	p.R132Q	CC2D2A_ENST00000503292.1_Missense_Mutation_p.R132Q|CC2D2A_ENST00000389652.5_Missense_Mutation_p.R83Q|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000413206.1_Missense_Mutation_p.R132Q			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	132					cell projection organization	cilium|microtubule basal body		p.R83Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						AGACGCTTACGAAGTCCCAGT	0.418000													5	27					0	0	0.217242	0	0
KIAA0232	9778	broad.mit.edu	37	4	6843853	6843853	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:6843853G>A	ENST00000307659.5	+	4	746	c.291G>A	c.(289-291)aaG>aaA	p.K97K	KIAA0232_ENST00000425103.1_Silent_p.K97K	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	97							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GAAAGAGTAAGAAAAAATGTT	0.388000													10	104					0	0	0.387290	0	0
LPAR4	2846	broad.mit.edu	37	X	78010591	78010591	+	Silent	SNP	T	T	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:78010591T>A	ENST00000435339.3	+	2	611	c.225T>A	c.(223-225)gcT>gcA	p.A75A		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4							integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						GTGAGACTGCTATTTTTATCA	0.393000													10	209					0	0	0.361761	0	0
PAPOLA	10914	broad.mit.edu	37	14	97003351	97003351	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:97003351G>A	ENST00000216277.8	+	12	1289	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	PAPOLA_ENST00000392990.2_Missense_Mutation_p.E357K	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	357					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		GAGTAAGGCAGAGTGGTCCAA	0.313000													5	51					0	0	0.248553	0	0
ABL1	25	broad.mit.edu	37	9	133759972	133759972	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:133759972G>A	ENST00000318560.5	+	11	2676	c.2295G>A	c.(2293-2295)aaG>aaA	p.K765K		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	765					actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TGCCTCGGAAGAGGGCAGGGG	0.582000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								5	60					0	0	0.278610	0	0
FLG	2312	broad.mit.edu	37	1	152287154	152287154	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:152287154C>G	ENST00000368799.1	-	3	243	c.208G>C	c.(208-210)Gac>Cac	p.D70H	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	70	EF-hand 2.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCAGTGAAGTCAATTTTCTTG	0.408000									Ichthyosis				5	72					0	0	0.217242	0	0
ZBTB39	9880	broad.mit.edu	37	12	57398642	57398642	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:57398642G>C	ENST00000300101.2	-	2	145	c.60C>G	c.(58-60)ctC>ctG	p.L20L		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GGCACTTGTTGAGTTCCTTCA	0.557000													9	206					0	0	0.361761	0	0
CLEC16A	23274	broad.mit.edu	37	16	11137897	11137897	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:11137897G>A	ENST00000409790.1	+	16	2013	c.1783G>A	c.(1783-1785)Gaa>Aaa	p.E595K	CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Missense_Mutation_p.E577K	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	595								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGCGAGAGAAGAAAGTGTTCA	0.443000													10	73					0	0	0.411799	0	0
DACH1	1602	broad.mit.edu	37	13	72053440	72053440	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:72053440C>T	ENST00000305425.4	-	8	2159	c.1737G>A	c.(1735-1737)ttG>ttA	p.L579L	DACH1_ENST00000354591.4_Silent_p.L377L|DACH1_ENST00000359684.2_Silent_p.L631L|DACH1_ENST00000313174.7_Silent_p.L431L	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	629					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TGGCAACTTTCAACAGCCCCT	0.358000													8	132					0	0	0.335167	0	0
MYLK4	340156	broad.mit.edu	37	6	2683270	2683270	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:2683270G>C	ENST00000274643.7	-	7	1014	c.672C>G	c.(670-672)ctC>ctG	p.L224L	MYLK4_ENST00000268446.5_Silent_p.L224L	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	224	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				GGTCCAAGTGGAGAATGTACA	0.488000													21	124					0	0	0.667858	0	0
STAG3	10734	broad.mit.edu	37	7	99796487	99796487	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:99796487G>A	ENST00000426455.1	+	14	1781	c.1374G>A	c.(1372-1374)gaG>gaA	p.E458E	STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Silent_p.E458E|STAG3_ENST00000394018.2_Silent_p.E400E	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	458					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGAGTGCGAGATAAGAATGA	0.547000													9	125					0	0	0.387290	0	0
VILL	50853	broad.mit.edu	37	3	38048129	38048129	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:38048129G>A	ENST00000283713.6	+	19	2661	c.2395G>A	c.(2395-2397)Gaa>Aaa	p.E799K	VILL_ENST00000465644.1_Missense_Mutation_p.E517K|VILL_ENST00000383759.2_Missense_Mutation_p.E799K			O15195	VILL_HUMAN	villin-like	799	HP.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCTGCGCCGGGAACAACTGAT	0.657000													21	74					0	0	0.639603	0	0
DOCK2	1794	broad.mit.edu	37	5	169494582	169494582	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:169494582G>T	ENST00000256935.8	+	45	4616	c.4536G>T	c.(4534-4536)atG>atT	p.M1512I	DOCK2_ENST00000520908.1_Missense_Mutation_p.M1004I|DOCK2_ENST00000540750.1_Missense_Mutation_p.M573I|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1512	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTGATGATGATAAACCAGT	0.498000													7	103					5.18039e-06	5.49522e-06	0.278610	1	0
TBC1D24	57465	broad.mit.edu	37	16	2546157	2546157	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:2546157C>G	ENST00000567020.1	+	2	148	c.8C>G	c.(7-9)tCt>tGt	p.S3C	RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.S3C|TBC1D24_ENST00000293970.5_Missense_Mutation_p.S3C|TBC1D24_ENST00000434757.2_Missense_Mutation_p.S3C	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	3					neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						GCTATGGACTCTCCAGGATAC	0.597000													16	109					0	0	0.681144	0	0
FRMD3	257019	broad.mit.edu	37	9	86004545	86004545	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:86004545G>A	ENST00000304195.3	-	2	432	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C	FRMD3_ENST00000376438.1_Missense_Mutation_p.R76C	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	76	FERM.					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						TCCACATAGCGAATGCCAAAG	0.498000													5	95					0	0	0.278610	0	0
UNKL	64718	broad.mit.edu	37	16	1417786	1417786	+	Silent	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:1417786C>G	ENST00000389221.4	-	13	1649	c.1650G>C	c.(1648-1650)ctG>ctC	p.L550L	UNKL_ENST00000397464.1_Silent_p.L52L|UNKL_ENST00000403703.1_Silent_p.L52L|UNKL_ENST00000402641.2_Silent_p.L52L|UNKL_ENST00000508903.2_Silent_p.L553L|UNKL_ENST00000391893.2_Silent_p.L49L|UNKL_ENST00000248104.7_Silent_p.L49L	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	550	Ser-rich.					cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				GGCCGGCACTCAGGATGGGGG	0.642000													3	9					0	0	0.115264	0	0
NCOA3	8202	broad.mit.edu	37	20	46255881	46255881	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:46255881G>A	ENST00000372004.3	+	6	709	c.493G>A	c.(493-495)Gac>Aac	p.D165N	NCOA3_ENST00000497292.1_3'UTR|NCOA3_ENST00000341724.6_Missense_Mutation_p.D165N|NCOA3_ENST00000371997.3_Missense_Mutation_p.D165N|NCOA3_ENST00000371998.3_Missense_Mutation_p.D165N	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	165	PAS.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.D165Y(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ACATGAAGAAGACAGAAAGGA	0.308000													4	63					0	0	0.150653	0	0
SLC37A3	84255	broad.mit.edu	37	7	140051177	140051177	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:140051177C>T	ENST00000326232.9	-	9	981	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	SLC37A3_ENST00000340308.3_Missense_Mutation_p.E260K|SLC37A3_ENST00000447932.2_Missense_Mutation_p.E260K|SLC37A3_ENST00000429996.2_3'UTR	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	260					carbohydrate transport|transmembrane transport	integral to membrane		p.E260K(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					TATTCGTCTTCATTTTCACCA	0.428000													10	127					0	0	0.457914	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6080762	6080762	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:6080762C>T	ENST00000199389.6	-	9	1026	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.E170K|EIF2AK1_ENST00000495565.1_5'UTR	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	294	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		GTGTCAGATTCTCCAAAGCGT	0.408000													15	125					0	0	0.479597	0	0
PRRC2B	84726	broad.mit.edu	37	9	134351676	134351676	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:134351676G>A	ENST00000357304.4	+	15	4215	c.4160G>A	c.(4159-4161)cGg>cAg	p.R1387Q	PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1387							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AGCGAGCGGCGGGAGCGGCGG	0.667000											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	2					0	0	0.115264	0	0
DNAH6	1768	broad.mit.edu	37	2	84806721	84806721	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:84806721C>A	ENST00000389394.3	+	14	2284	c.2147C>A	c.(2146-2148)gCa>gAa	p.A716E	DNAH6_ENST00000398278.2_Missense_Mutation_p.A716E|DNAH6_ENST00000237449.6_Missense_Mutation_p.A716E	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	716	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GCACAAGATGCAGAGTATAAA	0.353000													23	66					9.57634e-11	1.05066e-10	0.654019	1	0
DNAH3	55567	broad.mit.edu	37	16	20976354	20976354	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:20976354T>C	ENST00000261383.3	-	53	8851	c.8852A>G	c.(8851-8853)aAg>aGg	p.K2951R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2951	Stalk (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)		CTCCAAGTCCTTTTTCTTGGT	0.498000													3	180					0	0	0.150653	0	0
HIST1H2AD	3013	broad.mit.edu	37	6	26199108	26199108	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:26199108C>G	ENST00000341023.1	-	1	363	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	HIST1H3D_ENST00000377831.5_5'UTR	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	122					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				TGGTGACTCTCAGTCTTCTTG	0.488000													14	83					0	0	0.479597	0	0
DMRTB1	63948	broad.mit.edu	37	1	53927289	53927289	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:53927289T>C	ENST00000371445.3	+	2	776	c.721T>C	c.(721-723)Tcc>Ccc	p.S241P	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	241	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CCGGCATGTGTCCCGCAGCCA	0.662000													4	73					0	0	0.184627	0	0
GABRA2	2555	broad.mit.edu	37	4	46334652	46334652	+	Missense_Mutation	SNP	G	G	T	rs76519302		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:46334652G>T	ENST00000510861.1	-	4	408	c.235C>A	c.(235-237)Cct>Act	p.P79T	GABRA2_ENST00000540012.1_Intron|GABRA2_ENST00000514090.1_Missense_Mutation_p.P79T|GABRA2_ENST00000507069.1_Missense_Mutation_p.P79T|GABRA2_ENST00000515082.1_Missense_Mutation_p.P79T|GABRA2_ENST00000381620.4_Missense_Mutation_p.P79T|GABRA2_ENST00000356504.1_Missense_Mutation_p.P79T			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	79					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCTGAGACAGGGCCAAAACTG	0.328000													7	123					1.33987e-11	1.47283e-11	0.361761	1	0
SLC6A4	6532	broad.mit.edu	37	17	28530250	28530250	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:28530250G>A	ENST00000401766.2	-	13	2270	c.1758C>T	c.(1756-1758)ttC>ttT	p.F586F	SLC6A4_ENST00000261707.3_Silent_p.F586F			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	586					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GGATGCAAATGAAAGATGAGG	0.403000													5	170					0	0	0.248553	0	0
PSG8	440533	broad.mit.edu	37	19	43259327	43259327	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:43259327C>A	ENST00000404209.4	-	4	897	c.801G>T	c.(799-801)gaG>gaT	p.E267D	PSG8_ENST00000406636.3_Missense_Mutation_p.E145D|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.E174D|PSG8_ENST00000306511.4_Missense_Mutation_p.E267D	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	267	Ig-like C2-type 2.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				AGGTGTAGTTCTCACTCTTAG	0.483000													17	253					4.59853e-10	5.01658e-10	0.693898	1	0
DDX58	23586	broad.mit.edu	37	9	32500809	32500809	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:32500809G>A	ENST00000379883.2	-	2	392	c.235C>T	c.(235-237)Cat>Tat	p.H79Y	DDX58_ENST00000379882.1_Intron|DDX58_ENST00000545044.1_5'UTR|DDX58_ENST00000379868.1_5'UTR|DDX58_ENST00000542096.1_5'UTR	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	79	CARD 1.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TAACCTGCATGGTCTAGGGCA	0.418000													6	114					0	0	0.248553	0	0
OASL	8638	broad.mit.edu	37	12	121458759	121458759	+	Missense_Mutation	SNP	G	G	A	rs139160700	by1000genomes	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:121458759G>A	ENST00000257570.5	-	6	1420	c.1150C>T	c.(1150-1152)Cgg>Tgg	p.R384W	OASL_ENST00000339275.5_3'UTR	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	384	Ubiquitin-like 1.				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTGGTCCTCCGGATTTTCTCT	0.542000													3	74					0	0	0.115264	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	74					0	0	0.115264	0	0
JUP	3728	broad.mit.edu	37	17	39777261	39777261	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:39777261G>C	ENST00000540235.1	-	8	1393	c.1394C>G	c.(1393-1395)aCc>aGc	p.T465S	KRT17_ENST00000311208.8_Missense_Mutation_p.T306S			P14923	PLAK_HUMAN	junction plakoglobin	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GGCCTGCATGGTGCGCCGGAG	0.602000													11	99					0	0	0.457914	0	0
KTN1	3895	broad.mit.edu	37	14	56122763	56122763	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:56122763G>A	ENST00000416613.1	+	28	2877	c.2805G>A	c.(2803-2805)ttG>ttA	p.L935L	KTN1_ENST00000395308.1_Silent_p.L912L|KTN1_ENST00000554507.1_Silent_p.L230L|KTN1_ENST00000413890.2_Silent_p.L912L|KTN1_ENST00000438792.2_Silent_p.L935L|KTN1_ENST00000395309.3_Silent_p.L935L|KTN1_ENST00000395311.1_Silent_p.L912L|KTN1_ENST00000395314.3_Silent_p.L935L			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	935					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						ATTCTAGGTTGAAAGAAAAGG	0.348000			T	RET	papillary thryoid								4	21					0	0	0.184627	0	0
PTH1R	5745	broad.mit.edu	37	3	46942574	46942574	+	Splice_Site	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:46942574G>A	ENST00000449590.1	+	11	1251	c.1048G>A	c.(1048-1050)Ggg>Agg	p.G350R	PTH1R_ENST00000430002.2_Splice_Site_p.G350R|PTH1R_ENST00000418619.1_Splice_Site_p.G350R|PTH1R_ENST00000313049.5_Splice_Site_p.G350R	NM_000316.2	NP_000307.1	Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	350						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						GGCCAACACCGGGTAGGTCCA	0.627000													3	15					0	0	0.115264	0	0
TRIM55	84675	broad.mit.edu	37	8	67040613	67040613	+	Silent	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:67040613T>C	ENST00000315962.4	+	2	616	c.243T>C	c.(241-243)tgT>tgC	p.C81C	TRIM55_ENST00000350034.4_Silent_p.C81C|TRIM55_ENST00000353317.5_Silent_p.C81C|TRIM55_ENST00000276573.7_Silent_p.C81C	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	81						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GCCCATCCTGTAGACATGAAG	0.498000													61	197					0	0	0.870114	0	0
CC2D1A	54862	broad.mit.edu	37	19	14028882	14028882	+	Splice_Site	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:14028882G>A	ENST00000318003.7	+	7	989		c.e7-1		CC2D1A_ENST00000589606.1_Splice_Site	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A						positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CTCCCTTCCAGGTCCCTGCAG	0.527000													7	42					0	0	0.335167	0	0
CNTLN	54875	broad.mit.edu	37	9	17457539	17457539	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:17457539G>A	ENST00000380647.3	+	19	3216	c.3132G>A	c.(3130-3132)ttG>ttA	p.L1044L	CNTLN_ENST00000262360.5_Silent_p.L1044L|CNTLN_ENST00000425824.1_Silent_p.L1044L			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1044						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		ATTTGGATTTGGCTGGGCTTC	0.269000													4	62					0	0	0.184627	0	0
AGBL1	123624	broad.mit.edu	37	15	86814885	86814885	+	Missense_Mutation	SNP	C	C	G	rs147544569	by1000genomes	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:86814885C>G	ENST00000441037.2	+	14	1980	c.1885C>G	c.(1885-1887)Ctt>Gtt	p.L629V	AGBL1_ENST00000421325.2_Missense_Mutation_p.L629V|AGBL1_ENST00000389298.3_Missense_Mutation_p.L360V	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	629					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GAAGGAGGCTCTTCTTGGCAA	0.423000													10	125					0	0	0.479597	0	0
MUC5AC	4586	broad.mit.edu	37	11	1154305	1154305	+	Splice_Site	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:1154305G>A	ENST00000356191.2	+	2	151	c.151G>A	c.(151-153)Ggg>Agg	p.G51R						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GGGGCCCAGCGGTGAGTCTGA	0.667000													6	26					0	0	0.278610	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987500	154987500	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:154987500C>T	ENST00000368426.3	+	3	501	c.364C>T	c.(364-366)Ctc>Ttc	p.L122F	ZBTB7B_ENST00000535420.1_Missense_Mutation_p.L122F|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.L156F|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.L122F	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	122					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCAGCTGTGCTCCAGGCTGC	0.607000													6	67					0	0	0.335167	0	0
ITIH3	3699	broad.mit.edu	37	3	52836749	52836749	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:52836749C>T	ENST00000449956.2	+	13	1642	c.1636C>T	c.(1636-1638)Cgg>Tgg	p.R546W	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	546					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CCTGCAGGAGCGGGACTACAT	0.602000													8	97					0	0	0.335167	0	0
SV2B	9899	broad.mit.edu	37	15	91769716	91769716	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:91769716C>T	ENST00000394232.1	+	2	693	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W	SV2B_ENST00000545111.2_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.R75W|SV2B_ENST00000557291.1_Intron	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	75					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GGACAGCCTTCGGGGCCAGAC	0.587000													4	32					0	0	0.217242	0	0
RNF207	388591	broad.mit.edu	37	1	6270478	6270478	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:6270478G>C	ENST00000377939.4	+	10	1049	c.922G>C	c.(922-924)Gag>Cag	p.E308Q	RNF207_ENST00000377948.2_Missense_Mutation_p.E81Q	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	308						intracellular	zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CAACAAGGCTGAGTTCCTGGA	0.647000													6	109					0	0	0.278610	0	0
NBN	4683	broad.mit.edu	37	8	90993657	90993657	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:90993657C>T	ENST00000265433.3	-	3	420	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	NBN_ENST00000409330.1_Missense_Mutation_p.R7Q	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	89					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CTTCAAAGTTCGGGAAAAGCC	0.333000								Homologous recombination					8	173					0	0	0.307466	0	0
NUAK1	9891	broad.mit.edu	37	12	106500216	106500216	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:106500216G>C	ENST00000261402.2	-	2	1707	c.328C>G	c.(328-330)Ctc>Gtc	p.L110V		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	110	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GGATGGTTGAGAGATGACATG	0.373000													3	33					0	0	0.150653	0	0
OR7D2	162998	broad.mit.edu	37	19	9297319	9297319	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:9297319T>C	ENST00000344248.2	+	1	1041	c.862T>C	c.(862-864)Ttc>Ctc	p.F288L		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	288					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						GTTGAACCCCTTCATCTACAG	0.562000													3	126					0	0	0.184627	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113660171	113660171	+	RNA	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:113660171C>T	ENST00000393544.2	+	0	219																											CCCAGCCTCGCAGGCTAAGCT	0.602000													6	47					0	0	0.307466	0	0
IGLV2-11	28816	broad.mit.edu	37	22	23135470	23135470	+	RNA	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr22:23135470C>G	ENST00000390314.2	+	0	374																											TACTGCTGCTCATATGCAGGC	0.567000													18	165					0	0	0.575678	0	0
TAS2R30	259293	broad.mit.edu	37	12	11286349	11286349	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:11286349C>A	ENST00000539585.1	-	1	894	c.495G>T	c.(493-495)aaG>aaT	p.K165N	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1			taste receptor, type 2, member 30											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						TCAATTTGATCTTCCAAGTCA	0.383000													10	144					0.010729	0.0109186	0.387290	1	0
GZMA	3001	broad.mit.edu	37	5	54404206	54404206	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:54404206G>A	ENST00000274306.6	+	4	646	c.611G>A	c.(610-612)gGa>gAa	p.G204E		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	204	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CTCCGAGGTGGAAGAGACTCG	0.378000													7	87					0	0	0.335167	0	0
LPAR4	2846	broad.mit.edu	37	X	78010794	78010794	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:78010794C>G	ENST00000435339.3	+	2	814	c.428C>G	c.(427-429)cCt>cGt	p.P143R		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4							integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	p.P143H(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						ATTGTCTATCCTTTTCGATCT	0.463000													5	122					0	0	0.217242	0	0
NCOA3	8202	broad.mit.edu	37	20	46255875	46255875	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:46255875G>A	ENST00000372004.3	+	6	703	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	NCOA3_ENST00000497292.1_3'UTR|NCOA3_ENST00000341724.6_Missense_Mutation_p.E163K|NCOA3_ENST00000371997.3_Missense_Mutation_p.E163K|NCOA3_ENST00000371998.3_Missense_Mutation_p.E163K	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	163	PAS.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TATCTTACATGAAGAAGACAG	0.313000													4	67					0	0	0.217242	0	0
MED13	9969	broad.mit.edu	37	17	60032756	60032756	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:60032756G>C	ENST00000397786.2	-	26	6031	c.5955C>G	c.(5953-5955)ttC>ttG	p.F1985L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1985					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGTTGGGATTGAAAGCTAAAT	0.373000													9	53					0	0	0.361761	0	0
MRPS31	10240	broad.mit.edu	37	13	41331082	41331082	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:41331082C>T	ENST00000323563.6	-	4	703	c.667G>A	c.(667-669)Gag>Aag	p.E223K		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	223						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		ATCCGAAGCTCTGGTCTTGAA	0.378000													3	67					0	0	0.150653	0	0
SORL1	6653	broad.mit.edu	37	11	121414362	121414362	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:121414362C>T	ENST00000260197.7	+	13	1920	c.1791C>T	c.(1789-1791)ttC>ttT	p.F597F	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	597					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCACTGTCTTCACCATCTTTG	0.512000													7	185					0	0	0.335167	0	0
ATAD5	79915	broad.mit.edu	37	17	29220310	29220310	+	Splice_Site	SNP	A	A	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:29220310A>T	ENST00000321990.4	+	21	4818		c.e21-1			NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5						response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ATTGTTTTTCAGCACAAAATC	0.294000													61	253					0	0	0.870114	0	0
YME1L1	10730	broad.mit.edu	37	10	27423784	27423784	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:27423784G>A	ENST00000326799.3	-	7	986	c.838C>T	c.(838-840)Caa>Taa	p.Q280*	YME1L1_ENST00000375972.3_Nonsense_Mutation_p.Q190*|YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000376016.3_Nonsense_Mutation_p.Q223*	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	280					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						GTGAGTGCTTGAGCTTTCAGA	0.368000													6	92					0	0	0.278610	0	0
RTN1	6252	broad.mit.edu	37	14	60213112	60213112	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:60213112G>C	ENST00000267484.5	-	2	664	c.329C>G	c.(328-330)tCt>tGt	p.S110C		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	110					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GCAGATGTCAGAAATGAGAGA	0.458000													6	57					0	0	0.248553	0	0
ABHD12	26090	broad.mit.edu	37	20	25275652	25275652	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:25275652G>A	ENST00000376542.3	-	13	1451	c.1172C>T	c.(1171-1173)cCa>cTa	p.P391L	PYGB_ENST00000471359.1_Intron|PYGB_ENST00000216962.4_Intron	NM_015600.4	NP_056415.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	0						integral to membrane	acylglycerol lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						GCTGGAACCTGGGCCCTGCTG	0.473000											OREG0025844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	211					0	0	0.361761	0	0
PSMC6	5706	broad.mit.edu	37	14	53187697	53187697	+	Missense_Mutation	SNP	T	T	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:53187697T>G	ENST00000445930.2	+	11	944	c.938T>G	c.(937-939)aTa>aGa	p.I313R	PSMC6_ENST00000606149.1_Missense_Mutation_p.I299R			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	299					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					GATAGAAAAATACGTGAGTTA	0.368000													10	192					0	0	0.435327	0	0
BOD1L1	259282	broad.mit.edu	37	4	13605601	13605601	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:13605601C>G	ENST00000040738.5	-	10	3058	c.2923G>C	c.(2923-2925)Gag>Cag	p.E975Q		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	975	Lys-rich.						DNA binding										GAAGCAGTCTCTAATACAGGT	0.378000													12	177					0	0	0.520397	0	0
FMN2	56776	broad.mit.edu	37	1	240370862	240370862	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:240370862G>A	ENST00000319653.9	+	5	2980	c.2750G>A	c.(2749-2751)gGa>gAa	p.G917E		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	917	FH1.|Pro-rich.				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	p.G1060E(1)		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)			CCTCTTCCCGGAGCGGGCATA	0.657000													14	291					0	0	0.575678	0	0
TIPARP	25976	broad.mit.edu	37	3	156395594	156395594	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:156395594G>A	ENST00000461166.1	+	2	696	c.108G>A	c.(106-108)ttG>ttA	p.L36L	TIPARP_ENST00000295924.7_Silent_p.L36L|TIPARP_ENST00000486483.1_Silent_p.L36L|TIPARP_ENST00000542783.1_Silent_p.L36L	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	36							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	p.L36F(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TCACTCCATTGAAGACTTGTT	0.448000													8	76					0	0	0.335167	0	0
ARSB	411	broad.mit.edu	37	5	78260315	78260315	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:78260315C>T	ENST00000264914.4	-	3	1150	c.614G>A	c.(613-615)gGa>gAa	p.G205E	ARSB_ENST00000396151.3_Missense_Mutation_p.G205E|ARSB_ENST00000565165.1_Missense_Mutation_p.G205E	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	205					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		ATTTTTATATCCTGTTGCAAC	0.373000													9	60					0	0	0.307466	0	0
KMT2D	8085	broad.mit.edu	37	12	49445352	49445352	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:49445352G>T	ENST00000301067.7	-	10	2113	c.2114C>A	c.(2113-2115)tCa>tAa	p.S705*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGAAGCAGGTGAGTCCTCAGG	0.672000													10	99					0.0931896	0.0940056	0.411799	1	0
CHD9	80205	broad.mit.edu	37	16	53338213	53338213	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:53338213G>A	ENST00000566029.1	+	31	6504	c.6295G>A	c.(6295-6297)Gaa>Aaa	p.E2099K	CHD9_ENST00000447540.1_Missense_Mutation_p.E2099K|CHD9_ENST00000398510.3_Missense_Mutation_p.E2099K|CHD9_ENST00000564845.1_Missense_Mutation_p.E2099K			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2099					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGGAAAATGTGAAACAGACAG	0.448000													3	23					0	0	0.115264	0	0
NID1	4811	broad.mit.edu	37	1	236180524	236180524	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:236180524G>A	ENST00000264187.6	-	10	2260	c.2178C>T	c.(2176-2178)atC>atT	p.I726I	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	726	EGF-like 3; calcium-binding (Potential).				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GATTATTGCAGATTGTGTGGC	0.438000													9	208					0	0	0.387290	0	0
PIGU	128869	broad.mit.edu	37	20	33222438	33222438	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:33222438G>C	ENST00000374820.2	-	5	470	c.450C>G	c.(448-450)ttC>ttG	p.F150L	PIGU_ENST00000452740.2_Missense_Mutation_p.F170L|PIGU_ENST00000480175.1_5'UTR			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	170					attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						TAGTCAAAATGAAGAAAGCAA	0.403000													7	91					0	0	0.361761	0	0
UBXN2A	165324	broad.mit.edu	37	2	24194153	24194153	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:24194153G>A	ENST00000309033.4	+	3	293	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000535786.1_Missense_Mutation_p.E17K|UBXN2A_ENST00000404924.1_Missense_Mutation_p.E17K	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	17										endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						TAGGGTTTGTGAAACAGGATC	0.308000													7	100					0	0	0.307466	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178541064	178541064	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:178541064G>T	ENST00000251582.7	-	22	3541	c.3440C>A	c.(3439-3441)tCc>tAc	p.S1147Y		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1147					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S1147Y(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ATTGGTGCTGGAGGCATTGAG	0.557000													12	135					2.62699e-14	2.90431e-14	0.479597	1	0
XKRX	402415	broad.mit.edu	37	X	100169786	100169786	+	Missense_Mutation	SNP	A	A	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:100169786A>T	ENST00000328526.5	-	3	1495	c.930T>A	c.(928-930)aaT>aaA	p.N310K	XKRX_ENST00000372956.2_Missense_Mutation_p.N297K|XKRX_ENST00000468904.1_3'UTR	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	297						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TCTCAATGTTATTGGGCATCT	0.493000													9	162					0	0	0.361761	0	0
TWF2	11344	broad.mit.edu	37	3	52263941	52263941	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:52263941G>A	ENST00000305533.5	-	7	998	c.755C>T	c.(754-756)tCt>tTt	p.S252F	TWF2_ENST00000499914.2_Missense_Mutation_p.S252F|TLR9_ENST00000597542.1_5'UTR|TLR9_ENST00000494383.1_Silent_p.V112V	NM_007284.3	NP_009215.1			twinfilin actin-binding protein 2											breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTCACCTACAGACTCAAGGGG	0.667000													3	71					0	0	0.115264	0	0
OR7A17	26333	broad.mit.edu	37	19	14992003	14992003	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:14992003G>C	ENST00000327462.2	-	1	261	c.165C>G	c.(163-165)ctC>ctG	p.L55L		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	55					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)					TGGGGGTGTGGAGGTGGGAGT	0.498000													6	81					0	0	0.278610	0	0
TTN	7273	broad.mit.edu	37	2	179576038	179576038	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:179576038C>T	ENST00000589042.1	-	97	28149	c.27925G>A	c.(27925-27927)Gat>Aat	p.D9309N	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D8992N|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D8065N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8992	Ig-like 76.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTGAACATCTCTCAATTGT	0.363000													3	72					0	0	0.150653	0	0
MED13	9969	broad.mit.edu	37	17	60059866	60059866	+	Silent	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:60059866G>T	ENST00000397786.2	-	16	3574	c.3498C>A	c.(3496-3498)ctC>ctA	p.L1166L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1166					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGGTAGCCCTGAGAGCTTCAA	0.348000													13	134					2.27111e-07	2.43152e-07	0.411799	1	0
C2orf68	388969	broad.mit.edu	37	2	85836116	85836116	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:85836116G>C	ENST00000306336.5	-	4	497	c.453C>G	c.(451-453)ctC>ctG	p.L151L	USP39_ENST00000459775.1_Intron	NM_001013649.3	NP_001013671.2	Q2NKX9	CB068_HUMAN	chromosome 2 open reading frame 68	151										breast(1)|central_nervous_system(1)|endometrium(1)	3						TACGCAACTTGAGGGCTTCTC	0.552000													7	115					0	0	0.335167	0	0
ABCB6	10058	broad.mit.edu	37	2	220077977	220077977	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:220077977G>A	ENST00000265316.3	-	12	2107	c.1791C>T	c.(1789-1791)ttC>ttT	p.F597F	ABCB6_ENST00000439002.2_Silent_p.F551F	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	597	ABC transporter.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGCATAGCTGAAGTGCACGT	0.537000													6	45					0	0	0.248553	0	0
C1orf54	79630	broad.mit.edu	37	1	150248191	150248191	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:150248191G>C	ENST00000369102.1	+	5	942	c.172G>C	c.(172-174)Gag>Cag	p.E58Q	C1orf54_ENST00000369098.3_Missense_Mutation_p.E58Q|C1orf54_ENST00000369099.3_Missense_Mutation_p.E58Q			Q8WWF1	CA054_HUMAN	chromosome 1 open reading frame 54	58						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCCATATTTGAGTCAGAGGA	0.383000													9	78					0	0	0.361761	0	0
TTN	7273	broad.mit.edu	37	2	179497319	179497319	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:179497319C>G	ENST00000589042.1	-	235	43638	c.43414G>C	c.(43414-43416)Gaa>Caa	p.E14472Q	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E5599Q|TTN_ENST00000591111.1_Missense_Mutation_p.E12831Q|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E5532Q|TTN_ENST00000460472.2_Missense_Mutation_p.E5407Q|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E11904Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12831	Fibronectin type-III 4.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTCATCTTCAAAAGCAGCT	0.388000													14	113					0	0	0.435327	0	0
NTRK1	4914	broad.mit.edu	37	1	156845889	156845889	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:156845889C>T	ENST00000368196.3	+	12	1621	c.1501C>T	c.(1501-1503)Cgc>Tgc	p.R501C	NTRK1_ENST00000358660.3_Missense_Mutation_p.R504C|NTRK1_ENST00000392302.2_Missense_Mutation_p.R471C|NTRK1_ENST00000524377.1_Missense_Mutation_p.R507C	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	507					activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CCACATCAAGCGCCGGGACAT	0.627000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			14	187					0	0	0.539581	0	0
ITFG3	83986	broad.mit.edu	37	16	312520	312520	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:312520C>T	ENST00000399932.3	+	8	1390	c.939C>T	c.(937-939)ctC>ctT	p.L313L	ITFG3_ENST00000450082.2_Silent_p.L313L|ITFG3_ENST00000442458.2_Silent_p.L313L|ITFG3_ENST00000600536.1_Silent_p.L313L|ITFG3_ENST00000301679.2_Silent_p.L313L|ITFG3_ENST00000301678.3_Silent_p.L313L	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	313						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				AGAGCATGCTCAATGCCACCA	0.652000													11	88					0	0	0.435327	0	0
MCCC1	56922	broad.mit.edu	37	3	182769981	182769981	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:182769981G>A	ENST00000492597.1	-	8	1296	c.594C>T	c.(592-594)gtC>gtT	p.V198V	MCCC1_ENST00000265594.4_Silent_p.V307V|MCCC1_ENST00000539926.1_Silent_p.V172V			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	307	ATP-grasp.|Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	TAGCAGCTCTGACTGCAGCTT	0.348000													7	81					0	0	0.361761	0	0
NOG	9241	broad.mit.edu	37	17	54672146	54672146	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:54672146G>A	ENST00000332822.4	+	1	1087	c.562G>A	c.(562-564)Gag>Aag	p.E188K		NM_005450.4	NP_005441.1	Q13253	NOGG_HUMAN	noggin	188					BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing	extracellular space	cytokine binding|protein homodimerization activity			ovary(1)	1	Breast(9;5.24e-08)					CTCCGTGCCCGAGGGCATGGT	0.687000													3	33					0	0	0.184627	0	0
GBE1	2632	broad.mit.edu	37	3	81586104	81586104	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:81586104C>T	ENST00000429644.2	-	13	2404	c.1761G>A	c.(1759-1761)atG>atA	p.M587I	GBE1_ENST00000489715.1_Missense_Mutation_p.M546I	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	587					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.M587I(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CCAATCTATTCATATCCCTGT	0.413000									Glycogen Storage Disease, type IV				5	88					0	0	0.217242	0	0
FAM126B	285172	broad.mit.edu	37	2	201853102	201853102	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:201853102C>T	ENST00000418596.3	-	11	1061	c.874G>A	c.(874-876)Gat>Aat	p.D292N	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B							intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						TGTGTAGAATCAGGAGCATCA	0.378000													9	89					0	0	0.387290	0	0
ACAN	176	broad.mit.edu	37	15	89403660	89403660	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:89403660C>T	ENST00000439576.2	+	13	7310	c.6936C>T	c.(6934-6936)caC>caT	p.H2312H	ACAN_ENST00000559004.1_Intron|ACAN_ENST00000352105.7_Intron|ACAN_ENST00000561243.1_Silent_p.H2312H	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2312					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGGCGAGCACTGTAACATAG	0.627000													3	31					0	0	0.184627	0	0
DNAH6	1768	broad.mit.edu	37	2	84806722	84806722	+	Silent	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:84806722A>G	ENST00000389394.3	+	14	2285	c.2148A>G	c.(2146-2148)gcA>gcG	p.A716A	DNAH6_ENST00000398278.2_Silent_p.A716A|DNAH6_ENST00000237449.6_Silent_p.A716A	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	716	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CACAAGATGCAGAGTATAAAC	0.353000													23	66					0	0	0.654019	0	0
USP2	9099	broad.mit.edu	37	11	119244114	119244114	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:119244114C>T	ENST00000260187.2	-	2	371	c.77G>A	c.(76-78)gGc>gAc	p.G26D	RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	26	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GGCACCATAGCCCGACTTGGC	0.597000													5	35					0	0	0.217242	0	0
TMEM151A	256472	broad.mit.edu	37	11	66063113	66063113	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:66063113G>A	ENST00000327259.4	+	2	1540	c.1396G>A	c.(1396-1398)Ggt>Agt	p.G466S		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	466						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						GGATGGGCAGGGTGCTCTCTG	0.652000													5	27					0	0	0.248553	0	0
ITIH6	347365	broad.mit.edu	37	X	54784222	54784222	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:54784222G>A	ENST00000218436.6	-	8	2314	c.2285C>T	c.(2284-2286)cCt>cTt	p.P762L		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	762	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										AGGTTTCACAGGTGGGACTTG	0.532000													7	97					0	0	0.278610	0	0
NCAM1	4684	broad.mit.edu	37	11	113130955	113130955	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:113130955G>A	ENST00000316851.7	+	15	2011	c.2011G>A	c.(2011-2013)Gag>Aag	p.E671K	NCAM1_ENST00000533760.1_Missense_Mutation_p.E553K|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	681	Fibronectin type-III 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TGCTGAGTATGAGGTCTACGT	0.567000													8	88					0	0	0.335167	0	0
ZIC2	7546	broad.mit.edu	37	13	100637333	100637333	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:100637333G>A	ENST00000376335.3	+	2	1502	c.1209G>A	c.(1207-1209)acG>acA	p.T403T	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	403			T -> K (in HPE5).		brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGTCCTACACGCACCCCAGCT	0.667000													13	124					0	0	0.500413	0	0
SLC39A6	25800	broad.mit.edu	37	18	33706705	33706705	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr18:33706705C>G	ENST00000269187.5	-	2	479	c.266G>C	c.(265-267)aGa>aCa	p.R89T	SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000590986.1_Missense_Mutation_p.R89T	NM_012319.3	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	89						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TATATGGATTCTTTTAATCTT	0.413000													4	27					0	0	0.150653	0	0
UPF2	26019	broad.mit.edu	37	10	11994119	11994119	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:11994119C>T	ENST00000356352.2	-	14	3453	c.2980G>A	c.(2980-2982)Gaa>Aaa	p.E994K	UPF2_ENST00000357604.5_Missense_Mutation_p.E994K|UPF2_ENST00000397053.2_Missense_Mutation_p.E994K			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	994	Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				ATGGATTCTTCCAGAGAATTA	0.368000													20	198					0	0	0.693898	0	0
SLC25A39	51629	broad.mit.edu	37	17	42397441	42397441	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:42397441G>A	ENST00000225308.8	-	12	1158	c.984C>T	c.(982-984)atC>atT	p.I328I	SLC25A39_ENST00000586016.1_Silent_p.I204I|SLC25A39_ENST00000537904.2_Silent_p.I313I|SLC25A39_ENST00000377095.5_Silent_p.I336I|SLC25A39_ENST00000590194.1_Silent_p.I328I	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	336					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGCTGATCATGATGGCACAGG	0.617000													15	130					0	0	0.557998	0	0
OR6Q1	219952	broad.mit.edu	37	11	57799186	57799186	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:57799186C>T	ENST00000302622.3	+	1	785	c.762C>T	c.(760-762)ctC>ctT	p.L254L	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L254L(1)		biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TGGTGAGCCTCTTCTATGGCA	0.522000													18	128					0	0	0.654019	0	0
DMXL2	23312	broad.mit.edu	37	15	51772766	51772766	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:51772766G>C	ENST00000251076.5	-	24	6824	c.6537C>G	c.(6535-6537)ctC>ctG	p.L2179L	DMXL2_ENST00000543779.2_Silent_p.L2179L|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Silent_p.L1543L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2179						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GCAAAAATTTGAGTTCCATCC	0.393000													6	64					0	0	0.278610	0	0
ARID2	196528	broad.mit.edu	37	12	46298835	46298835	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:46298835G>C	ENST00000334344.6	+	21	5654	c.5482G>C	c.(5482-5484)Gaa>Caa	p.E1828Q	ARID2_ENST00000457135.1_3'UTR|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.E1438Q	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1828					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TAAGGAACAAGAAAAAGACTC	0.388000			"""N, S, F"""		hepatocellular carcinoma								3	34					0	0	0.150653	0	0
RNASET2	8635	broad.mit.edu	37	6	167352457	167352457	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:167352457C>T	ENST00000507747.1	-	6	313	c.314G>A	c.(313-315)aGg>aAg	p.R105K	RNASET2_ENST00000366855.6_Silent_p.Q86Q|RNASET2_ENST00000508775.1_Silent_p.Q124Q|RNASET2_ENST00000476238.2_Silent_p.Q124Q|RNASET2_ENST00000496851.2_5'UTR																							GCGCATCCACCTGGGCGGCGC	0.562000													9	110					0	0	0.411799	0	0
MCM10	55388	broad.mit.edu	37	10	13225054	13225054	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:13225054G>A	ENST00000378694.1	+	7	1127	c.1052G>A	c.(1051-1053)gGg>gAg	p.G351E	MCM10_ENST00000484800.2_Missense_Mutation_p.G352E|MCM10_ENST00000378714.3_Missense_Mutation_p.G351E			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	352					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						ACTGTCGTAGGGATCCTCAAT	0.463000													14	122					0	0	0.557998	0	0
PADI2	11240	broad.mit.edu	37	1	17410286	17410286	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:17410286C>G	ENST00000375486.4	-	9	1048	c.985G>C	c.(985-987)Gag>Cag	p.E329Q	PADI2_ENST00000375481.1_Missense_Mutation_p.E329Q|PADI2_ENST00000444885.2_Missense_Mutation_p.E213Q	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	329					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TTGGTTTTCTCCACAAGGTTC	0.542000													11	124					0	0	0.435327	0	0
MUC5B	727897	broad.mit.edu	37	11	1263825	1263825	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:1263825G>C	ENST00000447027.1	+	31	5782	c.5724G>C	c.(5722-5724)tgG>tgC	p.W1908C	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.W1905C			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1905	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGACGACCTGGATCCTCACAA	0.637000													14	209					0	0	0.539581	0	0
UGDH	7358	broad.mit.edu	37	4	39512009	39512009	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:39512009G>C	ENST00000316423.6	-	5	969	c.627C>G	c.(625-627)ctC>ctG	p.L209L	UGDH_ENST00000506179.1_Silent_p.L209L|UGDH_ENST00000507089.1_Silent_p.L112L|UGDH_ENST00000501493.2_Silent_p.L142L	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	209					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	TATTAGTGGTGAGGATCTTTT	0.423000													7	119					0	0	0.361761	0	0
CD209	30835	broad.mit.edu	37	19	7810767	7810767	+	Missense_Mutation	SNP	G	G	A	rs146082308		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:7810767G>A	ENST00000315599.7	-	4	407	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CD209_ENST00000394161.5_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000394173.4_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000354397.6_Missense_Mutation_p.R129W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.R129W(4)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCGGGTCAGCTCC	0.567000													5	200					0	0	0.335167	0	0
TKTL2	84076	broad.mit.edu	37	4	164393349	164393349	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:164393349C>T	ENST00000280605.3	-	1	1698	c.1538G>A	c.(1537-1539)gGa>gAa	p.G513E		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	513						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAGAGTAACTCCAGCTCCAAT	0.458000													17	140					0	0	0.539581	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42161536	42161536	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:42161536G>C	ENST00000444063.1	+	9	1270	c.1138G>C	c.(1138-1140)Gac>Cac	p.D380H	L3MBTL1_ENST00000418998.1_Missense_Mutation_p.D448H|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.D380H|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.D380H|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.D448H			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	380	Interaction with monomethylated and dimethylated peptides.				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GGTGCACTTTGACAACTGGGA	0.582000													9	93					0	0	0.307466	0	0
MSANTD3-TMEFF1	100526694	broad.mit.edu	37	9	103312381	103312381	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:103312381A>T	ENST00000502978.1	+	7	604	c.604A>T	c.(604-606)Aga>Tga	p.R202*	TMEFF1_ENST00000374879.4_Silent_p.T238T|TMEFF1_ENST00000334943.6_Silent_p.T199T	NM_001198812.1	NP_001185741.1	Q8IYR6	TEFF1_HUMAN		0	Kazal-like 2.				multicellular organismal development	integral to membrane|plasma membrane											TTACAGATACAGATGACACTA	0.343000													6	75					0	0	0.217242	0	0
BLM	641	broad.mit.edu	37	15	91333991	91333991	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:91333991G>C	ENST00000355112.3	+	15	3054	c.2936G>C	c.(2935-2937)aGa>aCa	p.R979T	BLM_ENST00000560509.1_Missense_Mutation_p.R979T|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	979	Helicase C-terminal.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GAATCTGGCAGAGCTGGAAGA	0.438000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				9	105					0	0	0.307466	0	0
APOM	55937	broad.mit.edu	37	6	31625244	31625244	+	Missense_Mutation	SNP	T	T	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:31625244T>G	ENST00000375916.3	+	4	927	c.431T>G	c.(430-432)tTt>tGt	p.F144C	APOM_ENST00000375920.4_Missense_Mutation_p.F72C|APOM_ENST00000375918.2_Missense_Mutation_p.F72C	NM_019101.2	NP_061974.2	O95445	APOM_HUMAN	apolipoprotein M	144					cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1)	7						TACCAGCGCTTTCTCCTCTAC	0.562000													5	75					0	0	0.217242	0	0
CTPS2	56474	broad.mit.edu	37	X	16707722	16707722	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:16707722G>A	ENST00000443824.1	-	8	1466	c.723C>T	c.(721-723)gtC>gtT	p.V241V	CTPS2_ENST00000380241.3_Silent_p.V241V|CTPS2_ENST00000359276.4_Silent_p.V241V	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	241					glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					GGATACATATGACCTAAGTGG	0.388000													8	123					0	0	0.307466	0	0
RNF169	254225	broad.mit.edu	37	11	74545750	74545750	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:74545750A>G	ENST00000299563.4	+	5	885	c.872A>G	c.(871-873)cAg>cGg	p.Q291R		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	291							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						GAAAGGAGTCAGAGCTGTAGT	0.443000													4	58					0	0	0.150653	0	0
MFSD2A	84879	broad.mit.edu	37	1	40432551	40432551	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:40432551G>A	ENST00000372809.5	+	8	1056	c.913G>A	c.(913-915)Ggc>Agc	p.G305S	MFSD2A_ENST00000480630.1_Intron|MFSD2A_ENST00000420632.2_Missense_Mutation_p.G136S|MFSD2A_ENST00000372811.5_Missense_Mutation_p.G292S	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	305					transmembrane transport	endoplasmic reticulum membrane|integral to membrane		p.G292C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CATGAGCCACGGCCCATACAT	0.562000													12	188					0	0	0.457914	0	0
TMC8	147138	broad.mit.edu	37	17	76136966	76136966	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:76136966G>C	ENST00000318430.5	+	16	2328	c.1954G>C	c.(1954-1956)Gag>Cag	p.E652Q	TMC8_ENST00000589691.1_Missense_Mutation_p.E429Q|TMC8_ENST00000591144.1_3'UTR	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	652						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			ACTGCTGCCGGAGCCAGGCCC	0.682000													3	34					0	0	0.150653	0	0
DOLPP1	57171	broad.mit.edu	37	9	131843433	131843433	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:131843433C>G	ENST00000372546.4	+	1	55	c.23C>G	c.(22-24)tCg>tGg	p.S8W	DOLPP1_ENST00000540102.1_5'UTR|DOLPP1_ENST00000406974.3_Missense_Mutation_p.S8W	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN	dolichyldiphosphatase 1	8					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						GGACAGTGCTCGCTCCCCGCT	0.672000													11	91					0	0	0.520397	0	0
LOC100505782	100505782	broad.mit.edu	37	17	39564896	39564896	+	RNA	SNP	T	T	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:39564896T>A	ENST00000432258.1	+	0	310				AC003958.2_ENST00000430006.1_RNA																							TGCTCATGGTTCTTCTTGAGG	0.562000													5	37					0	0	0.217242	0	0
KIAA1211L	343990	broad.mit.edu	37	2	99413948	99413948	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:99413948C>T	ENST00000397899.2	-	8	2800	c.2469G>A	c.(2467-2469)gcG>gcA	p.A823A		NM_207362.2	NP_997245.2			KIAA1211-like																		TCCAGGGTGGCGCAGGCTGCC	0.587000													12	101					0	0	0.500413	0	0
TOM1L2	146691	broad.mit.edu	37	17	17754256	17754256	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:17754256G>A	ENST00000581396.1	-	12	1235	c.1139C>T	c.(1138-1140)gCg>gTg	p.A380V	TOM1L2_ENST00000379504.3_Missense_Mutation_p.A430V|TOM1L2_ENST00000542206.1_Missense_Mutation_p.A311V|TOM1L2_ENST00000478943.1_Missense_Mutation_p.A163V|TOM1L2_ENST00000318094.10_Missense_Mutation_p.A385V|TOM1L2_ENST00000395739.4_Missense_Mutation_p.A385V|TOM1L2_ENST00000540946.1_Intron|TOM1L2_ENST00000535933.1_Missense_Mutation_p.A406V	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	430					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					AGATGGCTGCGCAACGGGGAT	0.587000													14	121					0	0	0.500413	0	0
SCUBE1	80274	broad.mit.edu	37	22	43619192	43619192	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr22:43619192G>A	ENST00000360835.4	-	11	1364	c.1238C>T	c.(1237-1239)aCc>aTc	p.T413I		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1						adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CCGGGGGGAGGTCTTGGCGCG	0.642000													15	205					0	0	0.575678	0	0
ABHD3	171586	broad.mit.edu	37	18	19239256	19239256	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr18:19239256C>T	ENST00000578270.1	-	5	1072	c.132G>A	c.(130-132)ttG>ttA	p.L44L	ABHD3_ENST00000580981.1_Silent_p.L186L|ABHD3_ENST00000289119.2_Silent_p.L239L			Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	239						integral to membrane	carboxylesterase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						CAGCTGCCATCAAAGGCGTTT	0.393000													7	108					0	0	0.248553	0	0
CRLF1	9244	broad.mit.edu	37	19	18709656	18709656	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:18709656C>G	ENST00000392386.3	-	3	646	c.453G>C	c.(451-453)ttG>ttC	p.L151F		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	151	Fibronectin type-III 1.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						AGCGGCAGGTCAAGTCCTTCA	0.607000													8	90					0	0	0.387290	0	0
HMCN1	83872	broad.mit.edu	37	1	186094827	186094827	+	Silent	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:186094827A>G	ENST00000271588.4	+	82	12820	c.12591A>G	c.(12589-12591)acA>acG	p.T4197T	HMCN1_ENST00000367492.2_Silent_p.T4197T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4197	Ig-like C2-type 41.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAATCCCCACACCAGCAATTA	0.403000													7	100					0	0	0.387290	0	0
TTN	7273	broad.mit.edu	37	2	179577067	179577067	+	Silent	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:179577067G>T	ENST00000589042.1	-	95	27806	c.27582C>A	c.(27580-27582)tcC>tcA	p.S9194S	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.S8877S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.S7950S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8877	Ig-like 75.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGCTGAACAGGAATCTTTTC	0.388000													20	243					4.47668e-21	4.96834e-21	0.667858	1	0
FLG	2312	broad.mit.edu	37	1	152282137	152282137	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:152282137G>T	ENST00000368799.1	-	3	5260	c.5225C>A	c.(5224-5226)cCc>cAc	p.P1742H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1742	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTGATGGGGCCCAGCCTG	0.587000									Ichthyosis				50	456					6.3237e-29	7.03176e-29	0.870114	1	0
DCAF4L1	285429	broad.mit.edu	37	4	41984112	41984112	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:41984112C>G	ENST00000333141.5	+	1	400	c.303C>G	c.(301-303)atC>atG	p.I101M		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	101										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						AGTACGGCATCATCAGCCTGC	0.557000													6	62					0	0	0.248553	0	0
MEPE	56955	broad.mit.edu	37	4	88766951	88766951	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:88766951G>A	ENST00000497649.2	+	6	1237	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	MEPE_ENST00000361056.3_Missense_Mutation_p.E311K|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_Missense_Mutation_p.E198K|MEPE_ENST00000424957.3_Missense_Mutation_p.E311K|MEPE_ENST00000395102.4_Missense_Mutation_p.E342K|MEPE_ENST00000560249.1_Missense_Mutation_p.E198K			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	311					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AGAGAGAGAAGAAAATGGTGG	0.448000													8	41					0	0	0.307466	0	0
CARS2	79587	broad.mit.edu	37	13	111296814	111296814	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:111296814C>T	ENST00000257347.4	-	13	1397	c.1334G>A	c.(1333-1335)aGa>aAa	p.R445K	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	445					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	AGCAGGACTTCTCGGCCCTTC	0.423000													5	65					0	0	0.248553	0	0
RCC1	1104	broad.mit.edu	37	1	28863401	28863401	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:28863401G>A	ENST00000373833.6	+	12	1365	c.1080G>A	c.(1078-1080)gtG>gtA	p.V360V	RCC1_ENST00000373832.1_Silent_p.V360V|RCC1_ENST00000373831.3_Silent_p.V391V|RCC1_ENST00000398958.2_Silent_p.V360V			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	360					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GGTATGCTGTGACCAAGGATG	0.587000													21	344					0	0	0.654019	0	0
HSPA1A	3303	broad.mit.edu	37	6	31785445	31785445	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:31785445G>A	ENST00000375651.5	+	1	2155	c.1912G>A	c.(1912-1914)Gag>Aag	p.E638K	HSPA1A_ENST00000608703.1_Missense_Mutation_p.E473K|HSPA1A_ENST00000458062.2_Missense_Mutation_p.E547K	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	638					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			endometrium(1)|ovary(1)|stomach(1)	3						CCCCACCATTGAGGAGGTAGA	0.547000													6	83					0	0	0.278610	0	0
LZTS1	11178	broad.mit.edu	37	8	20110556	20110556	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:20110556C>T	ENST00000381569.1	-	3	1243	c.886G>A	c.(886-888)Gag>Aag	p.E296K	LZTS1_ENST00000265801.6_Missense_Mutation_p.E296K|LZTS1_ENST00000522290.1_Missense_Mutation_p.E296K			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	296					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GGCCGCTCCTCGTAGGCCAGG	0.677000													5	47					0	0	0.248553	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57076793	57076793	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:57076793C>G	ENST00000532437.1	-	5	3703	c.3392G>C	c.(3391-3393)aGa>aCa	p.R1131T	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.R1131T			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1131	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ACCACTCACTCTGTCGTTGCC	0.577000													13	144					0	0	0.520397	0	0
DLEC1	9940	broad.mit.edu	37	3	38163892	38163892	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:38163892C>G	ENST00000308059.6	+	37	5278	c.5257C>G	c.(5257-5259)Cac>Gac	p.H1753D	DLEC1_ENST00000346219.3_Silent_p.L1711L|DLEC1_ENST00000452631.2_Missense_Mutation_p.H1756D			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1753					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CATGTTGCCTCACCAGCCCTG	0.602000													7	121					0	0	0.335167	0	0
IZUMO2	126123	broad.mit.edu	37	19	50666221	50666221	+	Splice_Site	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:50666221C>A	ENST00000293405.3	-	1	231	c.231G>T	c.(229-231)gtG>gtT	p.V77V		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	77						integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						AACACGCACCCACTTTCCCCA	0.682000													5	69					0.000157383	0.000164226	0.278610	1	0
NPIPB5	100132247	broad.mit.edu	37	16	22545865	22545865	+	Missense_Mutation	SNP	G	G	C	rs147500263	by1000genomes	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:22545865G>C	ENST00000424340.1	+	7	1840	c.1561G>C	c.(1561-1563)Gcc>Ccc	p.A521P	NPIPB5_ENST00000517539.1_Missense_Mutation_p.A521P|NPIPB5_ENST00000415654.1_3'UTR	NM_001135865.1	NP_001129337.1			nuclear pore complex interacting protein family, member B5																		TCAGCTCACTGCCCTTCCACC	0.567000													5	301					0	0	0.248553	0	0
DZIP1	22873	broad.mit.edu	37	13	96274734	96274734	+	Splice_Site	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:96274734G>A	ENST00000347108.3	-	7	1405	c.973C>T	c.(973-975)Caa>Taa	p.Q325*	DZIP1_ENST00000376829.2_Splice_Site_p.Q325*|DZIP1_ENST00000361396.2_Splice_Site_p.Q325*|DZIP1_ENST00000361156.3_Splice_Site_p.Q325*			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	325					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TCTGACAGTTGCTATAAGATA	0.373000													12	125					0	0	0.520397	0	0
TIAM1	7074	broad.mit.edu	37	21	32617916	32617916	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr21:32617916G>T	ENST00000286827.3	-	7	1943	c.1472C>A	c.(1471-1473)cCc>cAc	p.P491H	TIAM1_ENST00000541036.1_Missense_Mutation_p.P491H|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	491	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GGCGTGTTTGGGGATGCTGTT	0.552000													5	56					4.096e-09	4.43477e-09	0.217242	1	0
IFT81	28981	broad.mit.edu	37	12	110641690	110641690	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:110641690G>C	ENST00000242591.5	+	15	2085	c.1579G>C	c.(1579-1581)Gaa>Caa	p.E527Q	IFT81_ENST00000552912.1_Missense_Mutation_p.E527Q	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	527					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						ggagtgtgatgaaaagaaatc	0.388000													9	36					0	0	0.307466	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914814	94914814	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:94914814G>T	ENST00000334708.3	-	2	362	c.298C>A	c.(298-300)Ctg>Atg	p.L100M	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	100					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		AGGCCCTCCAGGATCAGAGCT	0.617000													9	77					0.000442599	0.000456059	0.335167	1	0
MAGEE2	139599	broad.mit.edu	37	X	75004685	75004685	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:75004685G>T	ENST00000373359.2	-	1	394	c.202C>A	c.(202-204)Ctg>Atg	p.L68M		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	68										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGGACCTCCAGGTCATTCGGG	0.567000													4	71					0.00024832	0.000257252	0.150653	1	0
ATRX	546	broad.mit.edu	37	X	76938191	76938191	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:76938191C>A	ENST00000373344.5	-	9	2771	c.2557G>T	c.(2557-2559)Gag>Tag	p.E853*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.E815*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	853					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTGTGTTTCTCATCTTCAGAA	0.348000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						20	387					0.000375601	0.000387717	0.639603	1	0
BTK	695	broad.mit.edu	37	X	100617172	100617172	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:100617172C>T	ENST00000308731.7	-	7	740	c.577G>A	c.(577-579)Gag>Aag	p.E193K	BTK_ENST00000372880.1_Missense_Mutation_p.E193K	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	193					calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGGTCCTCCTCAGGCGTTGGG	0.468000									Agammaglobulinemia, X-linked				7	116					0	0	0.307466	0	0
ACAA2	10449	broad.mit.edu	37	18	47320775	47320775	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr18:47320775G>A	ENST00000285093.10	-	5	927	c.452C>T	c.(451-453)tCa>tTa	p.S151L	ACAA2_ENST00000587994.1_Missense_Mutation_p.S148L|ACAA2_ENST00000589432.1_Missense_Mutation_p.S96L	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	151					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						ATCTGTTAATGATACCCATAA	0.328000													3	44					0	0	0.150653	0	0
BNIPL	149428	broad.mit.edu	37	1	151015476	151015476	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:151015476G>A	ENST00000295294.7	+	5	841	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	BNIPL_ENST00000368931.3_Missense_Mutation_p.E160K	NM_001159642.1	NP_001153114.1	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	160					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGAGACAGCTGAAAGGCTGGG	0.542000													14	169					0	0	0.479597	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18776929	18776929	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:18776929C>T	ENST00000380548.4	+	19	3041	c.2702C>T	c.(2701-2703)gCg>gTg	p.A901V		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	901	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CGCTGCCCGGCGCGCAGGGTC	0.652000													4	39					0	0	0.150653	0	0
MBNL2	10150	broad.mit.edu	37	13	97999162	97999162	+	Silent	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:97999162A>G	ENST00000345429.6	+	5	1426	c.645A>G	c.(643-645)gtA>gtG	p.V215V	MBNL2_ENST00000376673.3_Silent_p.V215V|MBNL2_ENST00000343600.4_Silent_p.V215V|MBNL2_ENST00000445661.2_Intron|MBNL2_ENST00000397601.1_Silent_p.V215V	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	215					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			ACAACACCGTAACCGTTTGTA	0.537000													14	102					0	0	0.500413	0	0
CSMD3	114788	broad.mit.edu	37	8	114326926	114326926	+	Missense_Mutation	SNP	G	G	T	rs111400281		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:114326926G>T	ENST00000297405.5	-	2	519	c.275C>A	c.(274-276)aCa>aAa	p.T92K	CSMD3_ENST00000352409.3_Missense_Mutation_p.T92K|CSMD3_ENST00000343508.3_Missense_Mutation_p.T52K|CSMD3_ENST00000455883.2_Missense_Mutation_p.T92K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	92	CUB 1.					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						TATTACCCATGTGCAGTTTGC	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	150					4.68919e-08	5.058e-08	0.361761	1	0
BIRC6	57448	broad.mit.edu	37	2	32670646	32670646	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:32670646G>A	ENST00000421745.2	+	21	4528	c.4394G>A	c.(4393-4395)gGa>gAa	p.G1465E		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1465					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GATCTGGCTGGATGCAGTACA	0.378000													13	39					0	0	0.520397	0	0
CAP1	10487	broad.mit.edu	37	1	40536608	40536608	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:40536608C>T	ENST00000372797.3	+	12	1862	c.1301C>T	c.(1300-1302)tCt>tTt	p.S434F	CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000372798.1_Missense_Mutation_p.S433F|CAP1_ENST00000340450.3_Missense_Mutation_p.S433F|CAP1_ENST00000372802.1_Missense_Mutation_p.S433F|CAP1_ENST00000372792.2_Missense_Mutation_p.S434F|CAP1_ENST00000372805.3_Missense_Mutation_p.S434F	NM_001105530.1|NM_006367.3	NP_001099000|NP_006358	Q01518	CAP1_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	434	C-CAP/cofactor C-like.				activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGTGCCAAATCTTCCGAGATG	0.408000													10	179					0	0	0.411799	0	0
OR5T3	390154	broad.mit.edu	37	11	56020432	56020432	+	Silent	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:56020432T>C	ENST00000303059.3	+	1	757	c.757T>C	c.(757-759)Ttg>Ctg	p.L253L		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTTCATTCTGTTGTCCATTCT	0.413000													14	184					0	0	0.500413	0	0
OR7C1	26664	broad.mit.edu	37	19	14910475	14910475	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:14910475G>C	ENST00000248073.2	-	1	548	c.474C>G	c.(472-474)ctC>ctG	p.L158L	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	158					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						TCAAGGTCTCGAGCAGGGAAC	0.522000													8	157					0	0	0.307466	0	0
AKR1A1	10327	broad.mit.edu	37	1	46027485	46027485	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:46027485C>T	ENST00000372070.3	+	3	766	c.19C>T	c.(19-21)Cta>Tta	p.L7L	AKR1A1_ENST00000351829.4_Silent_p.L7L|AKR1A1_ENST00000471651.1_Silent_p.L7L	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	7					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					TTCCTGTGTTCTACTGCACAC	0.502000													10	129					0	0	0.479597	0	0
C19orf12	83636	broad.mit.edu	37	19	30199175	30199175	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:30199175G>A	ENST00000323670.9	-	2	285	c.146C>T	c.(145-147)cCg>cTg	p.P49L	C19orf12_ENST00000592153.1_Missense_Mutation_p.P49L|C19orf12_ENST00000392276.1_Intron|C19orf12_ENST00000392278.2_Missense_Mutation_p.P60L|C19orf12_ENST00000392275.1_Intron	NM_001256047.1|NM_031448.4	NP_001242976.1|NP_113636.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	49						integral to membrane						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			GGCGAGTCCCGGTGGGCCGCC	0.617000													23	106					0	0	0.769981	0	0
OR6F1	343169	broad.mit.edu	37	1	247875997	247875997	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:247875997G>C	ENST00000302084.2	-	1	108	c.61C>G	c.(61-63)Caa>Gaa	p.Q21E	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGAAGAGTTTGAGAACCAGGA	0.473000													16	207					0	0	0.575678	0	0
GPR158	57512	broad.mit.edu	37	10	25464659	25464659	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:25464659G>C	ENST00000376351.3	+	1	669	c.310G>C	c.(310-312)Gag>Cag	p.E104Q	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	104						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CGGCCGCTACGAGTTGGCGGG	0.677000													5	81					0	0	0.307466	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227261689	227261689	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:227261689A>G	ENST00000366769.3	-	19	3902	c.2611T>C	c.(2611-2613)Ttt>Ctt	p.F871L	CDC42BPA_ENST00000366767.3_Missense_Mutation_p.F790L|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.F871L|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.F871L|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.F871L|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.F871L|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.F871L	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	871					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AGTTTCGCAAAACGACGCATT	0.378000													10	221					0	0	0.457914	0	0
P2RX7	5027	broad.mit.edu	37	12	121622169	121622169	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:121622169C>T	ENST00000328963.5	+	12	1296	c.842C>T	c.(841-843)cCg>cTg	p.P281L	P2RX7_ENST00000546057.1_Missense_Mutation_p.P451L|P2RX7_ENST00000535250.1_Missense_Mutation_p.P361L|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000541446.1_Missense_Mutation_p.P162L			A8K2Z0	A8K2Z0_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	451						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GACACACCCCCGATTCCTGGA	0.547000													4	112					0	0	0.217242	0	0
ATRN	8455	broad.mit.edu	37	20	3562949	3562949	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:3562949G>A	ENST00000262919.5	+	16	2780	c.2712G>A	c.(2710-2712)ctG>ctA	p.L904L	ATRN_ENST00000446916.2_Silent_p.L904L	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	904	C-type lectin.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CTCGGGGACTGAAGGCTGCAA	0.453000													10	176					0	0	0.335167	0	0
BMS1	9790	broad.mit.edu	37	10	43293936	43293936	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:43293936G>C	ENST00000374518.5	+	12	2173	c.2110G>C	c.(2110-2112)Gaa>Caa	p.E704Q		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor						ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TAATGAAGAAGAAGATGATGA	0.438000													7	75					0	0	0.307466	0	0
NAV3	89795	broad.mit.edu	37	12	78443825	78443825	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:78443825G>C	ENST00000397909.2	+	10	2249	c.2076G>C	c.(2074-2076)ttG>ttC	p.L692F	NAV3_ENST00000228327.6_Missense_Mutation_p.L692F|NAV3_ENST00000266692.7_Missense_Mutation_p.L692F|NAV3_ENST00000536525.2_Missense_Mutation_p.L692F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	692						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TAGCAGACTTGAGGCAGAATT	0.343000										HNSCC(70;0.22)			3	55					0	0	0.150653	0	0
PLCG2	5336	broad.mit.edu	37	16	81929432	81929432	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:81929432G>C	ENST00000359376.3	+	13	1307	c.1093G>C	c.(1093-1095)Gat>Cat	p.D365H		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	365	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GGACGGGCCCGATGGGAAGCC	0.607000													6	87					0	0	0.278610	0	0
UMODL1	89766	broad.mit.edu	37	21	43496222	43496222	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr21:43496222G>A	ENST00000408989.2	+	2	185	c.185G>A	c.(184-186)gGc>gAc	p.G62D	UMODL1_ENST00000400427.1_5'UTR|UMODL1_ENST00000408910.2_Missense_Mutation_p.G62D|UMODL1_ENST00000400424.2_5'UTR	NM_173568.3	NP_775839	Q5DID0	UROL1_HUMAN	uromodulin-like 1	62	EMI.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GTGTCCTGCGGCGGCTGGATC	0.607000													5	77					0	0	0.217242	0	0
DPY19L4	286148	broad.mit.edu	37	8	95800221	95800221	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:95800221G>A	ENST00000414645.2	+	18	2047	c.1948G>A	c.(1948-1950)Gag>Aag	p.E650K		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	650						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TATCTGCAATGAGGTGGGACC	0.343000													4	180					0	0	0.184627	0	0
EPN2	22905	broad.mit.edu	37	17	19186762	19186762	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:19186762G>C	ENST00000314728.5	+	3	814	c.330G>C	c.(328-330)caG>caC	p.Q110H	EPN2_ENST00000395620.2_Missense_Mutation_p.Q110H|EPN2_ENST00000571254.1_Missense_Mutation_p.Q110H|EPN2_ENST00000395626.1_Missense_Mutation_p.Q110H|EPN2_ENST00000347697.2_Missense_Mutation_p.Q110H|EPN2_ENST00000395618.3_Intron|EPN2_ENST00000575595.1_Intron	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	110	ENTH.				endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					AGGACTTCCAGTACATTGACC	0.567000													7	87					0	0	0.307466	0	0
B4GALT2	8704	broad.mit.edu	37	1	44450629	44450629	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:44450629C>T	ENST00000356836.6	+	4	1432	c.642C>T	c.(640-642)ttC>ttT	p.F214F	B4GALT2_ENST00000372324.1_Silent_p.F214F|B4GALT2_ENST00000434555.2_Silent_p.F148F|B4GALT2_ENST00000481924.1_3'UTR|B4GALT2_ENST00000309519.7_Silent_p.F243F	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	214					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	GCTTCATCTTCAGCGATGTGG	0.587000													5	108					0	0	0.217242	0	0
WDR75	84128	broad.mit.edu	37	2	190333285	190333285	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:190333285G>A	ENST00000314761.4	+	15	1773	c.1713G>A	c.(1711-1713)ctG>ctA	p.L571L		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	571						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			GGAATCTGCTGAGCTGTGCAT	0.388000													8	130					0	0	0.361761	0	0
LUC7L2	51631	broad.mit.edu	37	7	139026236	139026236	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:139026236C>G	ENST00000541515.3	+	1	131	c.106C>G	c.(106-108)Cgg>Ggg	p.R36G	C7orf55_ENST00000481123.1_Intron|C7orf55_ENST00000297534.6_Missense_Mutation_p.R36G|C7orf55-LUC7L2_ENST00000541170.3_Intron	NM_001244584.2	NP_001231513.1	Q9Y383	LC7L2_HUMAN	LUC7-like 2 (S. cerevisiae)	0							enzyme binding|metal ion binding			NS(2)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	16	Melanoma(164;0.242)					CGCGGCCTATCGGTACCTTGT	0.657000											OREG0018357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	76					0	0	0.278610	0	0
CYP2A7	1549	broad.mit.edu	37	19	41386406	41386406	+	Silent	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:41386406G>T	ENST00000301146.4	-	3	1012	c.471C>A	c.(469-471)atC>atA	p.I157I	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Silent_p.I106I	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	157						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.I157I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGATGGCCTCGATGAGGAAGC	0.662000													5	110					5.9392e-07	6.33515e-07	0.217242	1	0
ZNF407	55628	broad.mit.edu	37	18	72345657	72345657	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr18:72345657G>T	ENST00000299687.5	+	1	2682	c.2682G>T	c.(2680-2682)atG>atT	p.M894I	ZNF407_ENST00000309902.6_Missense_Mutation_p.M894I|ZNF407_ENST00000582337.1_Missense_Mutation_p.M894I|ZNF407_ENST00000577538.1_Missense_Mutation_p.M894I	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	894					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGGGAGATATGGAACGTCATT	0.398000													6	62					0.0581538	0.0587659	0.335167	1	0
DKKL1	27120	broad.mit.edu	37	19	49867919	49867919	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:49867919G>A	ENST00000221498.2	+	2	496	c.91G>A	c.(91-93)Gct>Act	p.A31T	DKKL1_ENST00000594268.1_Intron	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	31					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		CTCCGCTGCAGCTCCTATCCA	0.622000													8	89					0	0	0.361761	0	0
KANSL2	54934	broad.mit.edu	37	12	49054188	49054188	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:49054188C>T	ENST00000550347.1	-	7	1780	c.1737G>A	c.(1735-1737)gaG>gaA	p.E579E	KANSL2_ENST00000548701.1_5'UTR|KANSL2_ENST00000553086.1_Intron|KANSL2_ENST00000420613.2_Silent_p.E396E			Q9H9L4	CL041_HUMAN	KAT8 regulatory NSL complex subunit 2	396																	TGGGCTGAAGCTCAGCAGCAC	0.493000													5	35					0	0	0.217242	0	0
SMC2	10592	broad.mit.edu	37	9	106894344	106894344	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:106894344C>T	ENST00000286398.7	+	22	3334	c.3046C>T	c.(3046-3048)Ctt>Ttt	p.L1016F	SMC2_ENST00000374793.3_Missense_Mutation_p.L1016F|SMC2_ENST00000303219.8_Missense_Mutation_p.L1016F|SMC2_ENST00000374787.3_Missense_Mutation_p.L1016F	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1016					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						ATCCAAAATTCTTACAACTAT	0.308000													4	34					0	0	0.150653	0	0
NEFM	4741	broad.mit.edu	37	8	24776021	24776021	+	Missense_Mutation	SNP	G	G	A	rs150229714		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:24776021G>A	ENST00000221166.5	+	3	3435	c.2653G>A	c.(2653-2655)Gag>Aag	p.E885K	NEFM_ENST00000433454.2_Missense_Mutation_p.E509K|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.E667K|NEFM_ENST00000437366.2_Missense_Mutation_p.E846K			P07197	NFM_HUMAN	neurofilament, medium polypeptide	885	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AAAGGTTGAAGAGCATGAAGA	0.428000													7	140					0	0	0.335167	0	0
WBSCR17	64409	broad.mit.edu	37	7	70886076	70886076	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:70886076C>A	ENST00000333538.5	+	5	1581	c.947C>A	c.(946-948)cCt>cAt	p.P316H	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	316						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GCCGGAGACCCTTCTCTCCCC	0.602000													5	50					0.217242	0.217999	0.217242	1	0
SPAG9	9043	broad.mit.edu	37	17	49043730	49043730	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:49043730G>A	ENST00000262013.7	-	30	4077	c.3869C>T	c.(3868-3870)tCa>tTa	p.S1290L	SPAG9_ENST00000510283.1_Missense_Mutation_p.S1146L|SPAG9_ENST00000357122.4_Missense_Mutation_p.S1276L|SPAG9_ENST00000505279.1_Missense_Mutation_p.S1280L	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1290					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)			AAGAAGTTCTGATTCTCCACC	0.418000													12	160					0	0	0.479597	0	0
ZNF407	55628	broad.mit.edu	37	18	72343946	72343946	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr18:72343946G>A	ENST00000299687.5	+	1	971	c.971G>A	c.(970-972)gGa>gAa	p.G324E	ZNF407_ENST00000309902.6_Missense_Mutation_p.G324E|ZNF407_ENST00000582337.1_Missense_Mutation_p.G324E|ZNF407_ENST00000577538.1_Missense_Mutation_p.G324E	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CGAAATGTGGGAAGCACGTTT	0.343000													10	114					0	0	0.411799	0	0
ARID2	196528	broad.mit.edu	37	12	46230554	46230554	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:46230554C>T	ENST00000334344.6	+	8	975	c.803C>T	c.(802-804)tCt>tTt	p.S268F	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.S119F	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	268					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ATTTGGGAGTCTTTATTTCAT	0.348000			"""N, S, F"""		hepatocellular carcinoma								7	74					0	0	0.278610	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21036424	21036424	+	Missense_Mutation	SNP	T	T	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:21036424T>A	ENST00000381545.3	+	13	1789	c.1570T>A	c.(1570-1572)Tgc>Agc	p.C524S	SLCO1B3_ENST00000261196.2_Missense_Mutation_p.C524S|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.C524S|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.C524S	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	524					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CTTGGGTGAATGCCCAAGAGA	0.338000													5	79					0	0	0.248553	0	0
SYT4	6860	broad.mit.edu	37	18	40850420	40850420	+	Silent	SNP	G	G	A	rs117568424	byFrequency	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr18:40850420G>A	ENST00000255224.3	-	4	1532	c.1164C>T	c.(1162-1164)atC>atT	p.I388I	SYT4_ENST00000586678.1_5'UTR|SYT4_ENST00000590752.1_Silent_p.I370I	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	388	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CTAACTGCCCGATTACCTCAT	0.473000													6	145					0	0	0.217242	0	0
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:107049631C>T	ENST00000409886.3	-	16	2403	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	RGPD3_ENST00000304514.7_Silent_p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					intracellular transport		binding	p.A772A(4)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373000													5	259					0	0	0.184627	0	0
SRC	6714	broad.mit.edu	37	20	36022668	36022668	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:36022668G>A	ENST00000373578.2	+	7	890	c.541G>A	c.(541-543)Gag>Aag	p.E181K	SRC_ENST00000373567.2_Missense_Mutation_p.E181K|SRC_ENST00000360723.4_Missense_Mutation_p.E187K|SRC_ENST00000373558.2_Missense_Mutation_p.E187K|SRC_ENST00000358208.4_Missense_Mutation_p.E181K|SRC_ENST00000445403.1_Missense_Mutation_p.E181K	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog	181	SH2.				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	GCGAGAAAGTGAGACCACGAA	0.542000													8	85					0	0	0.335167	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553379	140553379	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:140553379C>T	ENST00000231137.3	+	1	1137	c.963C>T	c.(961-963)gcC>gcT	p.A321A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		321	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTATTCAGGCCAAAGACGGCG	0.428000													6	78					0	0	0.278610	0	0
TRIM2	23321	broad.mit.edu	37	4	154237060	154237060	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:154237060C>T	ENST00000338700.5	+	8	1756	c.1691C>T	c.(1690-1692)aCa>aTa	p.T564I	TRIM2_ENST00000437508.2_Missense_Mutation_p.T537I	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	537						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CAGCGGCCCACAGGAGTGGCT	0.448000													7	89					0	0	0.335167	0	0
TEC	7006	broad.mit.edu	37	4	48169865	48169865	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:48169865C>T	ENST00000381501.3	-	7	758	c.601G>A	c.(601-603)Gag>Aag	p.E201K		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	201	SH3.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TGGCCTCTCTCTAATCTGAGA	0.403000													10	141					0	0	0.361761	0	0
PPFIA3	8541	broad.mit.edu	37	19	49643260	49643260	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:49643260G>A	ENST00000334186.4	+	18	2632	c.2283G>A	c.(2281-2283)aaG>aaA	p.K761K	PPFIA3_ENST00000602351.1_Silent_p.K761K	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	761						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CCAAGAAGAAGAGCATCAAGT	0.557000													8	161					0	0	0.307466	0	0
GAK	2580	broad.mit.edu	37	4	844870	844870	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:844870G>A	ENST00000314167.4	-	26	3621	c.3511C>T	c.(3511-3513)Caa>Taa	p.Q1171*	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Nonsense_Mutation_p.Q1092*	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1171					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TTTGGCTTTTGAGCTAGAAAA	0.468000													5	64					0	0	0.184627	0	0
WDHD1	11169	broad.mit.edu	37	14	55429799	55429799	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:55429799G>C	ENST00000360586.3	-	19	2467	c.2402C>G	c.(2401-2403)tCt>tGt	p.S801C	WDHD1_ENST00000359167.4_Missense_Mutation_p.S319C|WDHD1_ENST00000420358.2_Missense_Mutation_p.S678C|WDHD1_ENST00000421192.1_Missense_Mutation_p.S678C	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	801						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CCGAGAGCGAGAAGCATATTT	0.418000													6	73					0	0	0.248553	0	0
TRIO	7204	broad.mit.edu	37	5	14399069	14399069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:14399069C>T	ENST00000344204.4	+	30	4528	c.4504C>T	c.(4504-4506)Cga>Tga	p.R1502*	TRIO_ENST00000509967.2_Nonsense_Mutation_p.R1453*|TRIO_ENST00000537187.1_Nonsense_Mutation_p.R1502*	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1502	PH 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AACCTTAATTCGAAAGGGTCG	0.398000													11	137					0	0	0.435327	0	0
DAB2	1601	broad.mit.edu	37	5	39392476	39392476	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:39392476C>G	ENST00000545653.1	-	4	851	c.321G>C	c.(319-321)gaG>gaC	p.E107D	DAB2_ENST00000339788.6_Missense_Mutation_p.E107D|DAB2_ENST00000512525.1_5'UTR|DAB2_ENST00000320816.6_Missense_Mutation_p.E107D|DAB2_ENST00000509337.1_Missense_Mutation_p.E107D	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	107	PID.				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CCCCAGTTTTCTCATCAATTA	0.458000													3	48					0	0	0.150653	0	0
SPDYE4	388333	broad.mit.edu	37	17	8659711	8659711	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:8659711C>T	ENST00000328794.6	-	3	560	c.384G>A	c.(382-384)ctG>ctA	p.L128L		NM_001128076.1	NP_001121548.1	A6NLX3	SPDE4_HUMAN	speedy/RINGO cell cycle regulator family member E4	128										breast(1)|endometrium(2)|kidney(1)	4						CTGACACCCTCAGGTCTTTGT	0.527000													14	156					0	0	0.500413	0	0
CALB2	794	broad.mit.edu	37	16	71417914	71417914	+	Silent	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:71417914C>G	ENST00000302628.4	+	7	596	c.519C>G	c.(517-519)ctC>ctG	p.L173L	CALB2_ENST00000349553.5_Silent_p.L173L	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	173	EF-hand 4.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				AATTGGGCCTCTCAGAGATGT	0.527000													5	133					0	0	0.248553	0	0
FRMPD4	9758	broad.mit.edu	37	X	12724949	12724949	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:12724949C>G	ENST00000380682.1	+	12	1708	c.1202C>G	c.(1201-1203)tCt>tGt	p.S401C		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	401	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCTCAGCTCTCTGCACTACAA	0.428000													10	138					0	0	0.500413	0	0
ZBTB11	27107	broad.mit.edu	37	3	101373573	101373573	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:101373573C>T	ENST00000312938.4	-	8	2864	c.2284G>A	c.(2284-2286)Gag>Aag	p.E762K		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	762					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CCTCGAACCTCAGGCTTTGGT	0.368000													8	101					0	0	0.479597	0	0
GDI2	2665	broad.mit.edu	37	10	5808246	5808246	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:5808246G>A	ENST00000380191.4	-	10	1439	c.1149C>T	c.(1147-1149)atC>atT	p.I383I	GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380132.4_Silent_p.I387I|GDI2_ENST00000380181.3_Silent_p.I338I	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	383					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						GGAGGTCACTGATGCTAACAA	0.502000													5	93					0	0	0.217242	0	0
OR1D2	4991	broad.mit.edu	37	17	2995465	2995465	+	Missense_Mutation	SNP	T	T	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:2995465T>A	ENST00000331459.1	-	1	825	c.826A>T	c.(826-828)Atg>Ttg	p.M276L		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	276					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						ACAGCATACATCACTGTGGCT	0.483000													9	113					0	0	0.387290	0	0
ADSL	158	broad.mit.edu	37	22	40762447	40762447	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr22:40762447G>C	ENST00000216194.7	+	13	1432	c.1376G>C	c.(1375-1377)aGa>aCa	p.R459T	ADSL_ENST00000454266.2_Missense_Mutation_p.R473T|ADSL_ENST00000342312.6_Missense_Mutation_p.R400T	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	459					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						CAGGTGCAGAGATTCTTAGAA	0.383000													3	55					0	0	0.115264	0	0
CLCN3P1	100419056	broad.mit.edu	37	9	15017463	15017463	+	RNA	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:15017463G>A	ENST00000609203.1	-	0	764																											GTTTGCTAATGATGAATGTGA	0.423000													5	60					0	0	0.217242	0	0
NEK9	91754	broad.mit.edu	37	14	75590902	75590902	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:75590902C>T	ENST00000238616.5	-	2	402	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	82	Protein kinase.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		AAATCGACTTCCTTCCACACA	0.473000													6	60					0	0	0.248553	0	0
NUP35	129401	broad.mit.edu	37	2	183993048	183993048	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:183993048C>T	ENST00000295119.4	+	2	177	c.74C>T	c.(73-75)tCt>tTt	p.S25F	NUP35_ENST00000409798.1_Missense_Mutation_p.S8F|NUP35_ENST00000541912.1_5'UTR|NUP35_ENST00000497330.1_3'UTR	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	25					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						TCACCCACATCTCCAAAGCCA	0.418000													5	55					0	0	0.184627	0	0
TMOD4	29765	broad.mit.edu	37	1	151147246	151147246	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:151147246G>T	ENST00000416280.2	-	2	205	c.106C>A	c.(106-108)Cag>Aag	p.Q36K				Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	77					muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCATCTCCTGTAGTTCGCAG	0.532000													4	46					0.00024832	0.000257252	0.150653	1	0
C10orf111	221060	broad.mit.edu	37	10	15138479	15138479	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:15138479C>G	ENST00000378207.3	-	2	618	c.345G>C	c.(343-345)atG>atC	p.M115I		NM_153244.1	NP_694976.1	Q8N326	CJ111_HUMAN	chromosome 10 open reading frame 111	115						integral to membrane				lung(5)|upper_aerodigestive_tract(1)	6						GGAGGAGGCTCATTAGGTCAG	0.488000													4	65					0	0	0.184627	0	0
RASAL2	9462	broad.mit.edu	37	1	178423706	178423706	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:178423706G>C	ENST00000448150.3	+	12	2898	c.2080G>C	c.(2080-2082)Gat>Cat	p.D694H	RASAL2_ENST00000367649.3_Missense_Mutation_p.D712H|RASAL2_ENST00000462775.1_Missense_Mutation_p.D564H	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	564					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CCCAGGCTTTGATGGTTACAT	0.423000													8	89					0	0	0.278610	0	0
RAD51B	5890	broad.mit.edu	37	14	68758652	68758652	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:68758652C>A	ENST00000487270.1	+	8	856	c.808C>A	c.(808-810)Cag>Aag	p.Q270K	RAD51B_ENST00000487861.1_Missense_Mutation_p.Q270K|RAD51B_ENST00000471583.1_Missense_Mutation_p.Q270K|RAD51B_ENST00000488612.1_Missense_Mutation_p.Q270K|RAD51B_ENST00000469165.2_3'UTR|RAD51B_ENST00000390683.3_Missense_Mutation_p.Q270K	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	270					blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						CCTGGCTTCTCAGGCAGACCT	0.517000								Direct reversal of damage					4	110					0.184627	0.185594	0.184627	1	0
INPP5B	3633	broad.mit.edu	37	1	38397639	38397639	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:38397639G>A	ENST00000373023.2	-	7	571	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	INPP5B_ENST00000373021.1_Missense_Mutation_p.R160C|INPP5B_ENST00000373024.3_Missense_Mutation_p.R160C|INPP5B_ENST00000373026.1_Missense_Mutation_p.R160C	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	160					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTACAACCGCGCGGCGTTGGC	0.612000													5	101					0	0	0.184627	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180721	142180721	+	RNA	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:142180721C>T	ENST00000390368.2	-	0	203																											ATTCATGGTTCATATCCTGGG	0.517000													27	808					0	0	0.750413	0	0
ZFP30	22835	broad.mit.edu	37	19	38126715	38126715	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:38126715C>T	ENST00000351218.2	-	6	1284	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000514101.2_Missense_Mutation_p.E243K|ZFP30_ENST00000392144.1_Missense_Mutation_p.E243K	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTTTACATTCATACGGCTTC	0.388000													19	52					0	0	0.592651	0	0
NAPEPLD	222236	broad.mit.edu	37	7	102743890	102743890	+	Missense_Mutation	SNP	C	C	T	rs145478769		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:102743890C>T	ENST00000417955.1	-	5	1322	c.1168G>A	c.(1168-1170)Gat>Aat	p.D390N	NAPEPLD_ENST00000465647.1_Missense_Mutation_p.D390N|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.D390N|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.D390N|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.D463N			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	390					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AAGTTTTCATCATCATTATTT	0.328000													4	60					0	0	0.217242	0	0
CAPN2	824	broad.mit.edu	37	1	223959545	223959545	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:223959545C>T	ENST00000295006.5	+	19	2247	c.1938C>T	c.(1936-1938)atC>atT	p.I646I	CAPN2_ENST00000433674.2_Silent_p.I568I|CAPN2_ENST00000474026.1_3'UTR	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	646	Domain IV.				proteolysis	cytoplasm|plasma membrane		p.I646I(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		ACCAAGTCATCGTTGCTCGGT	0.428000													16	221					0	0	0.520397	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133661560	133661560	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:133661560C>T	ENST00000310926.4	-	11	1787	c.1514G>A	c.(1513-1515)gGa>gAa	p.G505E	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.G429E	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	505					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						AGGGCACGATCCTGTCTTTGC	0.532000													22	122					0	0	0.729181	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915786	39915786	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:39915786C>T	ENST00000425673.1	+	17	4251	c.3926C>T	c.(3925-3927)aCg>aTg	p.T1309M	PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Intron|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.T1338M			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1338					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TATGCCACGACGGTTAACATC	0.692000													4	40					0	0	0.184627	0	0
PIP4K2A	5305	broad.mit.edu	37	10	22830755	22830755	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:22830755G>C	ENST00000376573.4	-	8	1242	c.1014C>G	c.(1012-1014)gtC>gtG	p.V338V	PIP4K2A_ENST00000545335.1_Silent_p.V279V|PIP4K2A_ENST00000323883.7_Silent_p.V198V	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	338	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						TAATTCCATAGACGTCGATGT	0.517000													6	88					0	0	0.307466	0	0
CRLF1	9244	broad.mit.edu	37	19	18709383	18709383	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:18709383C>T	ENST00000392386.3	-	4	749	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	186	Fibronectin type-III 1.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GTGTGGTACTCCTCACATGTG	0.632000													20	150					0	0	0.608945	0	0
POT1	25913	broad.mit.edu	37	7	124503433	124503433	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:124503433C>T	ENST00000357628.3	-	8	1115	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	POT1_ENST00000393329.1_Missense_Mutation_p.E42K	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	173					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CCGTCCACTTCTGCTTTGCCC	0.388000													14	96					0	0	0.539581	0	0
OR5H2	79310	broad.mit.edu	37	3	98002337	98002337	+	Silent	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:98002337A>G	ENST00000355273.2	+	1	606	c.606A>G	c.(604-606)ctA>ctG	p.L202L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TTAATTTTCTAATGGTTTTTA	0.308000													13	42					0	0	0.479597	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29857477	29857477	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:29857477C>T	ENST00000325874.8	+	14	2016	c.1787C>T	c.(1786-1788)tCg>tTg	p.S596L	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.S494L	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	596	FIP-RBD.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GACACCGCCTCGCGCGATGAG	0.582000													11	146					0	0	0.435327	0	0
MILR1	284021	broad.mit.edu	37	17	62462561	62462561	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:62462561G>A	ENST00000605096.1	+	2	93	c.93G>A	c.(91-93)agG>agA	p.R31R		NM_001085423.1	NP_001078892.1	Q7Z6M3	MILR1_HUMAN	mast cell immunoglobulin-like receptor 1	0						integral to membrane|plasma membrane											TTTTACAGAGGAGGAATCTGT	0.493000													5	32					0	0	0.248553	0	0
ARSI	340075	broad.mit.edu	37	5	149677553	149677553	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:149677553G>A	ENST00000328668.7	-	2	1513	c.934C>T	c.(934-936)Cga>Tga	p.R312*		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	312						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)			TTGCGTCCTCGGAGCGGCCAG	0.592000													9	78					0	0	0.307466	0	0
CD1E	913	broad.mit.edu	37	1	158325252	158325252	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:158325252A>G	ENST00000444681.2	+	2	514	c.221A>G	c.(220-222)aAt>aGt	p.N74S	CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.N173S|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.N173S|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.N173S|CD1E_ENST00000434258.1_Missense_Mutation_p.N171S|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.N173S	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	173					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					AAAGTGCTCAATCGCTACCTA	0.498000													5	72					0	0	0.217242	0	0
SACS	26278	broad.mit.edu	37	13	23905453	23905453	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:23905453C>T	ENST00000382298.3	-	10	13150	c.12562G>A	c.(12562-12564)Gct>Act	p.A4188T	SACS_ENST00000382292.3_Missense_Mutation_p.A4188T|SACS_ENST00000402364.1_Missense_Mutation_p.A3438T	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4188					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCACCTTCAGCATCAACAAGG	0.393000													15	122					0	0	0.479597	0	0
CD180	4064	broad.mit.edu	37	5	66479570	66479570	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:66479570C>G	ENST00000256447.4	-	3	1258	c.1101G>C	c.(1099-1101)gaG>gaC	p.E367D		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	367					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TTCCTAGTTTCTCCAAGCAGC	0.453000													14	123					0	0	0.500413	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110487424	110487424	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:110487424C>T	ENST00000378402.5	+	51	8787	c.8683C>T	c.(8683-8685)Cac>Tac	p.H2895Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2895					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAATGCAAATCACATTAACTG	0.338000										HNSCC(38;0.096)			23	35					0	0	0.681144	0	0
NAIP	4671	broad.mit.edu	37	5	70308245	70308245	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:70308245G>A	ENST00000517649.1	-	4	788	c.498C>T	c.(496-498)ttC>ttT	p.F166F	NAIP_ENST00000508426.2_Silent_p.F166F|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000194097.4_Silent_p.F166F|NAIP_ENST00000523981.1_Intron	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	166					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GCCAGTTCCTGAAGGACGCAA	0.458000													4	73					0	0	0.184627	0	0
NEB	4703	broad.mit.edu	37	2	152553184	152553184	+	Silent	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:152553184T>C	ENST00000427231.2	-	17	1738	c.1536A>G	c.(1534-1536)ctA>ctG	p.L512L	NEB_ENST00000172853.10_Silent_p.L512L|NEB_ENST00000397345.3_Silent_p.L512L|NEB_ENST00000409198.1_Silent_p.L512L|NEB_ENST00000604864.1_Silent_p.L512L|NEB_ENST00000603639.1_Silent_p.L512L	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	512					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTTGGGCTTGTAGCAGAACAG	0.403000													5	59					0	0	0.217242	0	0
ULK2	9706	broad.mit.edu	37	17	19689285	19689285	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:19689285C>G	ENST00000395544.4	-	21	2715	c.2216G>C	c.(2215-2217)tGt>tCt	p.C739S	ULK2_ENST00000361658.2_Missense_Mutation_p.C739S	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	739					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					CATGTGGGTACAAGTGGGGGC	0.483000													7	62					0	0	0.248553	0	0
TMEM57	55219	broad.mit.edu	37	1	25824881	25824881	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:25824881A>G	ENST00000374343.4	+	11	2098	c.1919A>G	c.(1918-1920)tAc>tGc	p.Y640C	TMEM57_ENST00000399766.3_Missense_Mutation_p.Y413C|TMEM57_ENST00000399763.3_Missense_Mutation_p.Y282C	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	640						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCCCCACTACTCTTCCAAA	0.542000													16	147					0	0	0.557998	0	0
LRRC7	57554	broad.mit.edu	37	1	70503871	70503871	+	Silent	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:70503871T>C	ENST00000310961.5	+	22	2683	c.2265T>C	c.(2263-2265)aaT>aaC	p.N755N	LRRC7_ENST00000415775.2_Silent_p.N34N|LRRC7_ENST00000035383.5_Silent_p.N750N			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	750						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCCCAGGCAATATACCACAGC	0.502000													37	189					0	0	0.834066	0	0
STAC	6769	broad.mit.edu	37	3	36524568	36524568	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:36524568G>A	ENST00000273183.3	+	3	773	c.473G>A	c.(472-474)cGg>cAg	p.R158Q	STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Intron	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	158					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GCACCCCAGCGGTGCATGGGC	0.577000													3	77					0	0	0.150653	0	0
LTBP3	4054	broad.mit.edu	37	11	65318916	65318916	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:65318916C>T	ENST00000301873.5	-	10	1846	c.1578G>A	c.(1576-1578)caG>caA	p.Q526Q	LTBP3_ENST00000322147.4_Silent_p.Q526Q|LTBP3_ENST00000536982.1_Silent_p.Q152Q	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	526						extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TTGGGTGGCTCTGCTGCACTG	0.652000													5	55					0	0	0.217242	0	0
LGR5	8549	broad.mit.edu	37	12	71960693	71960693	+	Splice_Site	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:71960693G>A	ENST00000266674.5	+	11	1381		c.e11+1		LGR5_ENST00000540815.2_Splice_Site|LGR5_ENST00000536515.1_Splice_Site			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5							integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TCCAAGTGCTGTGCGTATCAG	0.393000													6	89					0	0	0.248553	0	0
NCOA6	23054	broad.mit.edu	37	20	33356291	33356291	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:33356291C>A	ENST00000374796.2	-	6	3060	c.490G>T	c.(490-492)Gga>Tga	p.G164*	NCOA6_ENST00000359003.2_Nonsense_Mutation_p.G164*			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	164	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ATAGGAAATCCCGCCTCCATC	0.458000													14	125					3.52763e-06	3.75585e-06	0.520397	1	0
MAPRE3	22924	broad.mit.edu	37	2	27248831	27248831	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:27248831C>G	ENST00000233121.2	+	6	906	c.708C>G	c.(706-708)atC>atG	p.I236M	MAPRE3_ENST00000402218.1_Missense_Mutation_p.I221M|MAPRE3_ENST00000405074.3_Missense_Mutation_p.I221M			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	236	APC-binding.|DCTN1-binding.|EB1 C-terminal.				cell division|mitosis|positive regulation of transcription, DNA-dependent	cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm	microtubule binding|protein binding|small GTPase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGAGCTCATCTGCCAGGAGC	0.537000													12	90					0	0	0.479597	0	0
ESRP1	54845	broad.mit.edu	37	8	95658419	95658419	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:95658419C>A	ENST00000433389.2	+	4	589	c.399C>A	c.(397-399)ttC>ttA	p.F133L	ESRP1_ENST00000358397.5_Missense_Mutation_p.F133L|ESRP1_ENST00000423620.2_Missense_Mutation_p.F133L|ESRP1_ENST00000454170.2_Missense_Mutation_p.F133L	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	133					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CTGAATGCTTCTATTCCTTTT	0.363000													7	119					0.000157383	0.000164226	0.278610	1	0
CADPS2	93664	broad.mit.edu	37	7	122130198	122130198	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:122130198G>A	ENST00000334010.7	-	11	2210	c.1789C>T	c.(1789-1791)Cct>Tct	p.P597S	CADPS2_ENST00000449022.2_Missense_Mutation_p.P597S|CADPS2_ENST00000313070.7_Missense_Mutation_p.P597S|CADPS2_ENST00000412584.2_Missense_Mutation_p.P597S	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	597					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TGAATTGCAGGAACTGGTTTA	0.368000													5	83					0	0	0.217242	0	0
CCT6B	10693	broad.mit.edu	37	17	33285634	33285634	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:33285634G>A	ENST00000314144.5	-	3	396	c.281C>T	c.(280-282)tCa>tTa	p.S94L	CCT6B_ENST00000421975.3_Missense_Mutation_p.S94L|CCT6B_ENST00000436961.3_Intron	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	94				S -> T (in Ref. 1; BAA11347).	chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TAGAACATTTGAAGTAGTACC	0.353000													4	62					0	0	0.184627	0	0
VIP	7432	broad.mit.edu	37	6	153073417	153073417	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:153073417C>T	ENST00000367244.3	+	2	277	c.105C>T	c.(103-105)ctC>ctT	p.L35L	VIP_ENST00000367243.3_Silent_p.L35L	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	35					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		CTTCTGCTCTCAGGTAAGTTC	0.423000													6	41					0	0	0.217242	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117431578	117431578	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:117431578G>A	ENST00000160373.3	-	4	1763	c.1672C>T	c.(1672-1674)Cca>Tca	p.P558S		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	558	Pro-rich.									breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGGTGTGGTGGAGAAGGAGTT	0.502000													9	140					0	0	0.361761	0	0
GZMA	3001	broad.mit.edu	37	5	54404209	54404209	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:54404209G>A	ENST00000274306.6	+	4	649	c.614G>A	c.(613-615)aGa>aAa	p.R205K		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	205	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CGAGGTGGAAGAGACTCGTGC	0.383000													8	89					0	0	0.361761	0	0
JUP	3728	broad.mit.edu	37	17	39919274	39919274	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:39919274C>T	ENST00000393931.3	-	8	1576	c.1458G>A	c.(1456-1458)gtG>gtA	p.V486V	JUP_ENST00000310706.5_Silent_p.V486V|JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Silent_p.V486V	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	486					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TGAGCAGCTTCACGATGGCTG	0.607000													4	105					0	0	0.248553	0	0
GC	2638	broad.mit.edu	37	4	72634130	72634130	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:72634130C>G	ENST00000273951.8	-	3	492	c.149G>C	c.(148-150)aGa>aCa	p.R50T	GC_ENST00000513476.1_Missense_Mutation_p.R50T|GC_ENST00000504199.1_Missense_Mutation_p.R69T|GC_ENST00000503472.1_5'UTR	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	50	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)	GGGAAATTTTCTACTGTACAG	0.468000													4	59					0	0	0.184627	0	0
GAPVD1	26130	broad.mit.edu	37	9	128088742	128088742	+	Missense_Mutation	SNP	C	C	T	rs144122272	by1000genomes	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:128088742C>T	ENST00000470056.1	+	10	2066	c.1906C>T	c.(1906-1908)Cgt>Tgt	p.R636C	GAPVD1_ENST00000394104.2_Missense_Mutation_p.R636C|GAPVD1_ENST00000394083.2_Missense_Mutation_p.R615C|GAPVD1_ENST00000495955.1_Missense_Mutation_p.R636C|GAPVD1_ENST00000297933.6_Missense_Mutation_p.R636C|GAPVD1_ENST00000265956.4_Missense_Mutation_p.R636C|GAPVD1_ENST00000394105.2_Missense_Mutation_p.R636C|GAPVD1_ENST00000312123.9_Missense_Mutation_p.R615C			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	636					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GTTTGAAATTCGTGACATGAT	0.368000													5	89					0	0	0.217242	0	0
BOD1L1	259282	broad.mit.edu	37	4	13605643	13605643	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:13605643C>T	ENST00000040738.5	-	10	3016	c.2881G>A	c.(2881-2883)Gaa>Aaa	p.E961K		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	961	Lys-rich.						DNA binding										GGTTTGTCTTCAACTTTAGAC	0.398000													9	143					0	0	0.335167	0	0
HADH	3033	broad.mit.edu	37	4	108911132	108911132	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:108911132C>T	ENST00000403312.1	+	1	263	c.221C>T	c.(220-222)tCg>tTg	p.S74L	HADH_ENST00000603302.1_Missense_Mutation_p.S15L|HADH_ENST00000309522.3_Missense_Mutation_p.S15L|HADH_ENST00000505878.1_5'UTR	NM_001184705.2	NP_001171634.2	Q16836	HCDH_HUMAN	hydroxyacyl-CoA dehydrogenase	15					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	GTGTCCTCCTCGTCCACCGCC	0.687000													3	37					0	0	0.115264	0	0
SSX3	10214	broad.mit.edu	37	X	48214125	48214125	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:48214125G>C	ENST00000298396.2	-	3	178	c.126C>G	c.(124-126)gtC>gtG	p.V42V	SSX3_ENST00000376893.3_Silent_p.V42V	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	42	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						TTTTCTCCGAGACTTTCATCT	0.398000													9	127					0	0	0.335167	0	0
MIPOL1	145282	broad.mit.edu	37	14	37969203	37969203	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:37969203G>C	ENST00000327441.7	+	13	1588	c.1122G>C	c.(1120-1122)gaG>gaC	p.E374D	MIPOL1_ENST00000539062.2_Missense_Mutation_p.E343D|MIPOL1_ENST00000545536.1_Missense_Mutation_p.E343D|MIPOL1_ENST00000556451.1_Missense_Mutation_p.E343D|MIPOL1_ENST00000396294.2_Missense_Mutation_p.E374D|MIPOL1_ENST00000537471.1_Missense_Mutation_p.E374D|MIPOL1_ENST00000536774.1_Missense_Mutation_p.E193D	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	374										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		AAAACAGAGAGAACATTGTTT	0.348000													5	101					0	0	0.217242	0	0
KIF13B	23303	broad.mit.edu	37	8	28974498	28974498	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:28974498G>A	ENST00000524189.1	-	31	3725	c.3687C>T	c.(3685-3687)tcC>tcT	p.S1229S	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1229					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CATGCACCGCGGAGTCCCAGG	0.577000													5	101					0	0	0.217242	0	0
OR6K3	391114	broad.mit.edu	37	1	158687408	158687408	+	Silent	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:158687408C>A	ENST00000368146.1	-	1	545	c.546G>T	c.(544-546)ctG>ctT	p.L182L	OR6K3_ENST00000368145.1_Silent_p.L166L			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CACAGAAAGGCAGTGTGGAAA	0.512000													7	114					0.00198382	0.00202963	0.248553	1	0
ZNF347	84671	broad.mit.edu	37	19	53644299	53644299	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:53644299C>T	ENST00000452676.2	-	5	2211	c.1785G>A	c.(1783-1785)gaG>gaA	p.E595E	ZNF347_ENST00000601469.2_Silent_p.E595E|ZNF347_ENST00000334197.7_Silent_p.E594E|ZNF347_ENST00000601804.1_Intron	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	594					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TATAAGGTTTCTCTCCAGTAT	0.388000													17	151					0	0	0.592651	0	0
NAV2	89797	broad.mit.edu	37	11	20113769	20113769	+	Silent	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:20113769G>T	ENST00000396085.1	+	29	6040	c.5679G>T	c.(5677-5679)ctG>ctT	p.L1893L	NAV2_ENST00000396087.3_Silent_p.L1949L|NAV2_ENST00000360655.4_Silent_p.L1826L|NAV2_ENST00000527559.2_Silent_p.L1878L|NAV2_ENST00000349880.4_Silent_p.L1890L|NAV2_ENST00000540292.1_Silent_p.L1880L|NAV2_ENST00000533917.1_Silent_p.L954L|NAV2_ENST00000311043.8_Silent_p.L954L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1949						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						TAGAGAAGCTGAAAGCTGAGA	0.498000													6	91					0.00198382	0.00202963	0.248553	1	0
GTPBP10	85865	broad.mit.edu	37	7	90014312	90014312	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:90014312G>A	ENST00000222511.6	+	10	1074	c.1008G>A	c.(1006-1008)aaG>aaA	p.K336K	GTPBP10_ENST00000257659.8_Silent_p.K257K	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	336					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						AAGAATTAAAGAATTGTATAA	0.358000													3	72					0	0	0.150653	0	0
SMAD6	4091	broad.mit.edu	37	15	67073574	67073574	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:67073574G>A	ENST00000288840.5	+	4	2223	c.1192G>A	c.(1192-1194)Gac>Aac	p.D398N	SMAD6_ENST00000338426.4_Missense_Mutation_p.D137N	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	398	MH2.				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						CAAGGAGCCCGACGGCGTGTG	0.711000													5	36					0	0	0.278610	0	0
HCFC1	3054	broad.mit.edu	37	X	153224215	153224215	+	Silent	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:153224215C>A	ENST00000310441.7	-	10	2574	c.1608G>T	c.(1606-1608)gtG>gtT	p.V536V	HCFC1_ENST00000369984.4_Silent_p.V536V|HCFC1_ENST00000354233.3_Silent_p.V467V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	536					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TACTGCCAATCACCTGCAGCA	0.677000													3	23					0.00909568	0.00927276	0.150653	1	0
KIF1B	23095	broad.mit.edu	37	1	10357056	10357056	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:10357056G>A	ENST00000377086.1	+	21	2165	c.1963G>A	c.(1963-1965)Gag>Aag	p.E655K	KIF1B_ENST00000263934.6_Missense_Mutation_p.E609K|KIF1B_ENST00000377093.4_Missense_Mutation_p.E609K|KIF1B_ENST00000377081.1_Missense_Mutation_p.E655K|KIF1B_ENST00000377083.1_Missense_Mutation_p.E609K			O60333	KIF1B_HUMAN	kinesin family member 1B	655					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GACCCCCTCTGAGCCTGTGGA	0.483000													7	54					0	0	0.307466	0	0
DNAH2	146754	broad.mit.edu	37	17	7674653	7674653	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:7674653C>T	ENST00000572933.1	+	28	5828	c.4368C>T	c.(4366-4368)atC>atT	p.I1456I	DNAH2_ENST00000389173.2_Silent_p.I1456I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1456	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTCAGAATATCTTCCTAGGAG	0.512000													20	152					0	0	0.706142	0	0
MTF2	22823	broad.mit.edu	37	1	93602500	93602500	+	Silent	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:93602500A>G	ENST00000370298.4	+	15	1987	c.1698A>G	c.(1696-1698)gaA>gaG	p.E566E	MTF2_ENST00000370303.4_Silent_p.E509E|MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000545708.1_Silent_p.E464E|MTF2_ENST00000540243.1_Silent_p.E464E	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	566						nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		CATGTGGCGAAAAATACCGAG	0.433000													3	117					0	0	0.115264	0	0
NAV2	89797	broad.mit.edu	37	11	20113776	20113776	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:20113776G>A	ENST00000396085.1	+	29	6047	c.5686G>A	c.(5686-5688)Gag>Aag	p.E1896K	NAV2_ENST00000396087.3_Missense_Mutation_p.E1952K|NAV2_ENST00000360655.4_Missense_Mutation_p.E1829K|NAV2_ENST00000527559.2_Missense_Mutation_p.E1881K|NAV2_ENST00000349880.4_Missense_Mutation_p.E1893K|NAV2_ENST00000540292.1_Missense_Mutation_p.E1883K|NAV2_ENST00000533917.1_Missense_Mutation_p.E957K|NAV2_ENST00000311043.8_Missense_Mutation_p.E957K	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1952						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						GCTGAAAGCTGAGAATGATCG	0.507000													6	97					0	0	0.278610	0	0
P4HTM	54681	broad.mit.edu	37	3	49043188	49043188	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:49043188C>T	ENST00000343546.4	+	7	1603	c.1235C>T	c.(1234-1236)tCa>tTa	p.S412L	P4HTM_ENST00000383729.4_Intron	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	349	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	GGGACCTGCTCAGTGCCCCCC	0.562000													5	106					0	0	0.217242	0	0
PARP4	143	broad.mit.edu	37	13	25008866	25008866	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:25008866C>T	ENST00000381989.3	-	31	4518	c.4413G>A	c.(4411-4413)ttG>ttA	p.L1471L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1471					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GGTTGGCAGTCAAAGAGGCTG	0.493000													8	18					0	0	0.307466	0	0
MYO1G	64005	broad.mit.edu	37	7	45016619	45016619	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:45016619C>T	ENST00000258787.7	-	2	283	c.147G>A	c.(145-147)gtG>gtA	p.V49V		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	49	Myosin head-like.		V -> M (in allele HA-2M; the HA-2V allele constitute the HA-2 epitope while HA-2M is not recognized by HA-2 cytotoxic T lymphocytes).			myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GGTAGGGGTTCACGGACACCA	0.627000													13	94					0	0	0.500413	0	0
KIRREL	55243	broad.mit.edu	37	1	158063421	158063421	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:158063421G>C	ENST00000368172.1	+	9	1042	c.1030G>C	c.(1030-1032)Gac>Cac	p.D344H	KIRREL_ENST00000359209.6_Missense_Mutation_p.D530H|KIRREL_ENST00000416935.2_Missense_Mutation_p.D430H|KIRREL_ENST00000360089.4_Missense_Mutation_p.D366H|KIRREL_ENST00000368173.3_Missense_Mutation_p.D546H|KIRREL_ENST00000392272.2_Missense_Mutation_p.D427H			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	530	Ig-like C2-type 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					AGGTCGCAAAGACGTGACCCT	0.607000													3	45					0	0	0.150653	0	0
DNAH17	8632	broad.mit.edu	37	17	76548800	76548800	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:76548800T>C	ENST00000389840.5	-	15	2390	c.2266A>G	c.(2266-2268)Aca>Gca	p.T756A	DNAH17_ENST00000585328.1_Missense_Mutation_p.T756A					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGAATAATGTCGTTTCAGCG	0.428000													11	279					0	0	0.387290	0	0
BNIPL	149428	broad.mit.edu	37	1	151015865	151015865	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:151015865G>A	ENST00000295294.7	+	6	1037	c.428G>A	c.(427-429)aGa>aAa	p.R143K	BNIPL_ENST00000368931.3_Missense_Mutation_p.R225K	NM_001159642.1	NP_001153114.1	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	225					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TATCTACCCAGAAGCAGCATC	0.463000													25	432					0	0	0.729181	0	0
SRCAP	10847	broad.mit.edu	37	16	30735318	30735318	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:30735318C>G	ENST00000262518.4	+	25	4958	c.4573C>G	c.(4573-4575)Ctg>Gtg	p.L1525V	SRCAP_ENST00000344771.4_Missense_Mutation_p.L1367V|SRCAP_ENST00000395059.2_Missense_Mutation_p.L1463V	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1525	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGGTCACCCTCTGTTGTTGGC	0.587000													5	41					0	0	0.217242	0	0
TTN	7273	broad.mit.edu	37	2	179575936	179575936	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:179575936C>G	ENST00000589042.1	-	97	28251	c.28027G>C	c.(28027-28029)Gac>Cac	p.D9343H	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D9026H|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D8099H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9026	Ig-like 76.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGGGCTGTCTTTCAATGGC	0.423000													17	227					0	0	0.654019	0	0
KIAA1210	57481	broad.mit.edu	37	X	118284333	118284333	+	Silent	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:118284333T>C	ENST00000402510.2	-	1	209	c.210A>G	c.(208-210)gcA>gcG	p.A70A		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	70										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GGTCAGTCACTGCAGCTGGGC	0.547000													3	20					0	0	0.150653	0	0
UIMC1	51720	broad.mit.edu	37	5	176370462	176370462	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:176370462C>T	ENST00000377219.2	-	10	1637	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	UIMC1_ENST00000506128.1_Missense_Mutation_p.E325K|UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000511320.1_Missense_Mutation_p.E491K|UIMC1_ENST00000377227.4_Missense_Mutation_p.E491K	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	491	Necessary for interaction with NR6A1 C- terminus.				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATAGCTACTTCCTTCTCAGCA	0.433000													8	100					0	0	0.307466	0	0
TIAM1	7074	broad.mit.edu	37	21	32582412	32582412	+	Silent	SNP	C	C	T	rs28520154		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr21:32582412C>T	ENST00000286827.3	-	12	2808	c.2337G>A	c.(2335-2337)acG>acA	p.T779T	TIAM1_ENST00000541036.1_Silent_p.T754T	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	779	RBD.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCCGGACGACCGTCAGGGCAG	0.547000													3	57					0	0	0.115264	0	0
SLC37A3	84255	broad.mit.edu	37	7	140051237	140051237	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:140051237C>G	ENST00000326232.9	-	9	921	c.718G>C	c.(718-720)Gag>Cag	p.E240Q	SLC37A3_ENST00000340308.3_Missense_Mutation_p.E240Q|SLC37A3_ENST00000447932.2_Missense_Mutation_p.E240Q|SLC37A3_ENST00000429996.2_3'UTR	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	240					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					TCTTCTGCCTCAATACCCGAG	0.423000													4	82					0	0	0.150653	0	0
UBAP2L	9898	broad.mit.edu	37	1	154234112	154234112	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:154234112G>A	ENST00000428931.1	+	24	3008	c.2841G>A	c.(2839-2841)gtG>gtA	p.V947V	UBAP2L_ENST00000271877.7_Silent_p.V958V|UBAP2L_ENST00000343815.6_Silent_p.V947V|UBAP2L_ENST00000361546.2_Silent_p.V947V	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	947					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATGTCAGTGTGAATGCATCGG	0.512000													8	205					0	0	0.335167	0	0
GPR75	10936	broad.mit.edu	37	2	54081274	54081274	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:54081274T>C	ENST00000394705.2	-	2	890	c.620A>G	c.(619-621)tAt>tGt	p.Y207C	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	207						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GTCGACCACATAGAGAGACAA	0.507000													7	117					0	0	0.278610	0	0
APCDD1L	164284	broad.mit.edu	37	20	57042196	57042196	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:57042196G>T	ENST00000371149.3	-	3	937	c.707C>A	c.(706-708)cCc>cAc	p.P236H	APCDD1L_ENST00000439429.1_Missense_Mutation_p.P247H	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	236						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GTAGCCCGTGGGCCGGTAGTG	0.731000													14	81					3.32936e-07	3.55791e-07	0.539581	1	0
GPR75	10936	broad.mit.edu	37	2	54081280	54081280	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:54081280G>C	ENST00000394705.2	-	2	884	c.614C>G	c.(613-615)tCt>tGt	p.S205C	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	205						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CACATAGAGAGACAAAATGGC	0.493000													8	114					0	0	0.307466	0	0
NMRAL1	57407	broad.mit.edu	37	16	4511851	4511851	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:4511851C>T	ENST00000574733.1	-	6	1559	c.830G>A	c.(829-831)aGa>aAa	p.R277K	NMRAL1_ENST00000283429.6_Missense_Mutation_p.R277K|NMRAL1_ENST00000574425.1_Missense_Mutation_p.R277K|NMRAL1_ENST00000404295.3_Missense_Mutation_p.R277K			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	277						nucleus|perinuclear region of cytoplasm	binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						GGGGTTGAGTCTCAGGGTCAG	0.617000													12	232					0	0	0.435327	0	0
USH2A	7399	broad.mit.edu	37	1	215901707	215901707	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:215901707C>T	ENST00000366943.2	-	61	12117	c.11731G>A	c.(11731-11733)Gag>Aag	p.E3911K	USH2A_ENST00000307340.3_Missense_Mutation_p.E3911K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3911	Fibronectin type-III 24.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACAGACTCCTCTTCAATGCCA	0.448000										HNSCC(13;0.011)			4	47					0	0	0.150653	0	0
EBF3	253738	broad.mit.edu	37	10	131671831	131671831	+	Silent	SNP	G	G	A	rs147554322		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:131671831G>A	ENST00000368648.3	-	8	738	c.666C>T	c.(664-666)gaC>gaT	p.D222D	EBF3_ENST00000355311.5_Silent_p.D222D	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	222					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)		GCACGTGGCCGTCCACGTTGA	0.522000													3	48					0	0	0.115264	0	0
MED13	9969	broad.mit.edu	37	17	60059762	60059762	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:60059762G>T	ENST00000397786.2	-	16	3678	c.3602C>A	c.(3601-3603)tCa>tAa	p.S1201*		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1201					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCCAAAGGGTGAAAATAAATT	0.388000													8	134					1.06961e-07	1.14943e-07	0.278610	1	0
ANKS1B	56899	broad.mit.edu	37	12	100205990	100205990	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:100205990C>T	ENST00000547776.2	-	3	314	c.315G>A	c.(313-315)gtG>gtA	p.V105V	ANKS1B_ENST00000329257.7_Silent_p.V105V|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	105						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TCACAATTTCCACATCTCCTT	0.403000													5	94					0	0	0.217242	0	0
SLC43A1	8501	broad.mit.edu	37	11	57259332	57259332	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:57259332G>A	ENST00000278426.3	-	9	1230	c.875C>T	c.(874-876)tCt>tTt	p.S292F	SLC43A1_ENST00000533515.1_5'UTR|SLC43A1_ENST00000528450.1_Missense_Mutation_p.S292F	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	292					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						TAAGGGGACAGACCCTGGGGA	0.607000											OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	37					0	0	0.150653	0	0
PRKCG	5582	broad.mit.edu	37	19	54410095	54410095	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:54410095C>A	ENST00000263431.3	+	18	2322	c.2040C>A	c.(2038-2040)ttC>ttA	p.F680L	PRKCG_ENST00000540413.1_Missense_Mutation_p.F680L|PRKCG_ENST00000542049.1_Missense_Mutation_p.F531L	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	680	AGC-kinase C-terminal.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ACCCCGACTTCGTGCACCCGG	0.687000											OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	139					2.80697e-09	3.04485e-09	0.387290	1	0
TPTEP1	387590	broad.mit.edu	37	22	17119516	17119516	+	RNA	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr22:17119516C>A	ENST00000426585.1	+	0	328																											CTCGTCCTTGCCGACCTAATT	0.328000													8	82					0.000673444	0.000692685	0.361761	1	0
KIF7	374654	broad.mit.edu	37	15	90189215	90189215	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:90189215C>T	ENST00000394412.3	-	8	1907	c.1831G>A	c.(1831-1833)Gag>Aag	p.E611K		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	611					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CTGTTCACCTCAGTCAGCAAC	0.592000													13	160					0	0	0.520397	0	0
CHD7	55636	broad.mit.edu	37	8	61735145	61735145	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:61735145G>A	ENST00000423902.2	+	12	3520	c.3041G>A	c.(3040-3042)gGa>gAa	p.G1014E	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.G1014E	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1014	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TATTTGAAAGGAATCCATGGC	0.408000													15	223					0	0	0.539581	0	0
EPHX4	253152	broad.mit.edu	37	1	92515897	92515897	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:92515897C>T	ENST00000370383.4	+	5	726	c.628C>T	c.(628-630)Cag>Tag	p.Q210*		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	210						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						ACACCCTGCTCAGCTGTTGAA	0.328000													6	104					0	0	0.217242	0	0
DMD	1756	broad.mit.edu	37	X	32328262	32328262	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:32328262G>C	ENST00000357033.4	-	42	6260	c.6054C>G	c.(6052-6054)ctC>ctG	p.L2018L	DMD_ENST00000378677.2_Silent_p.L2014L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2018					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CAGGAGCATTGAGAAGTTGTT	0.393000													5	83					0	0	0.248553	0	0
SNAP23	8773	broad.mit.edu	37	15	42821985	42821985	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:42821985C>G	ENST00000249647.3	+	7	1006	c.538C>G	c.(538-540)Caa>Gaa	p.Q180E	SNAP23_ENST00000397138.1_Missense_Mutation_p.Q127E|SNAP23_ENST00000564153.1_Intron|SNAP23_ENST00000349777.1_Missense_Mutation_p.Q127E	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN	synaptosomal-associated protein, 23kDa	180	t-SNARE coiled-coil homology 2.				cellular membrane fusion|post-Golgi vesicle-mediated transport|protein transport|vesicle targeting	azurophil granule|cell junction|Golgi apparatus|nucleus|plasma membrane enriched fraction|specific granule|synapse|synaptosome	protein binding			large_intestine(1)|lung(1)	2		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		GATTGATGCTCAAAATCCACA	0.403000													5	72					0	0	0.184627	0	0
CUL4B	8450	broad.mit.edu	37	X	119670883	119670883	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:119670883G>A	ENST00000371322.5	-	15	2006	c.1945C>T	c.(1945-1947)Cag>Tag	p.Q649*	CUL4B_ENST00000336592.6_Nonsense_Mutation_p.Q654*|CUL4B_ENST00000404115.3_Nonsense_Mutation_p.Q667*	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	667					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTCTGATTCTGCATATACTAT	0.348000													11	105					0	0	0.435327	0	0
PPP1R36	145376	broad.mit.edu	37	14	65053984	65053984	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:65053984G>C	ENST00000298705.1	+	10	880	c.784G>C	c.(784-786)Gaa>Caa	p.E262Q	RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	CN050_HUMAN	protein phosphatase 1, regulatory subunit 36	262																	GATTGAAGAAGAAGTAGGGAG	0.413000													3	66					0	0	0.150653	0	0
C4orf50	389197	broad.mit.edu	37	4	5961300	5961300	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:5961300G>A	ENST00000531445.1	-	7	2101	c.2055C>T	c.(2053-2055)gtC>gtT	p.V685V	C4orf50_ENST00000324058.5_Silent_p.V211V			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	211										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						GTTCCACAGTGACCGCTGCCA	0.577000													5	44					0	0	0.248553	0	0
C1orf189	388701	broad.mit.edu	37	1	154173021	154173021	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:154173021C>T	ENST00000368525.3	-	3	143	c.118G>A	c.(118-120)Ggc>Agc	p.G40S		NM_001010979.1	NP_001010979.1	Q5VU69	CA189_HUMAN	chromosome 1 open reading frame 189	40										kidney(1)|large_intestine(3)|lung(1)|skin(2)	7	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CTTCTCTGGCCCAATGCCATT	0.507000													15	401					0	0	0.539581	0	0
RARG	5916	broad.mit.edu	37	12	53605514	53605514	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:53605514G>C	ENST00000425354.2	-	10	1798	c.1311C>G	c.(1309-1311)agC>agG	p.S437R	RARG_ENST00000327550.3_Missense_Mutation_p.S365R|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000338561.5_Missense_Mutation_p.S426R|RARG_ENST00000394426.1_Missense_Mutation_p.S437R|RARG_ENST00000543726.1_Missense_Mutation_p.S415R	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	437					canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CCTCATCCTCGCTAGAGGCAT	0.637000													3	23					0	0	0.115264	0	0
FBN3	84467	broad.mit.edu	37	19	8193926	8193926	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:8193926G>A	ENST00000600128.1	-	18	2696	c.2282C>T	c.(2281-2283)aCg>aTg	p.T761M	FBN3_ENST00000601739.1_Missense_Mutation_p.T761M|FBN3_ENST00000270509.2_Missense_Mutation_p.T761M			Q75N90	FBN3_HUMAN	fibrillin 3	761	EGF-like 9; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCAGATCTCCGTGTCCTGCCA	0.602000													3	69					0	0	0.115264	0	0
TSPAN18	90139	broad.mit.edu	37	11	44948255	44948255	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:44948255G>A	ENST00000340160.3	+	8	885	c.646G>A	c.(646-648)Gag>Aag	p.E216K	TSPAN18_ENST00000520358.2_Missense_Mutation_p.E216K	NM_130783.4	NP_570139.3	Q96SJ8	TSN18_HUMAN	tetraspanin 18	216						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						CAACACCTTCGAGACCTACGT	0.592000											OREG0020922	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	252					0	0	0.654019	0	0
ODF2L	57489	broad.mit.edu	37	1	86848624	86848624	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:86848624T>C	ENST00000359242.3	-	6	778	c.497A>G	c.(496-498)cAg>cGg	p.Q166R	ODF2L_ENST00000317336.7_Missense_Mutation_p.Q166R|ODF2L_ENST00000370567.1_Missense_Mutation_p.Q166R|ODF2L_ENST00000370566.3_Missense_Mutation_p.Q166R|ODF2L_ENST00000294678.2_Missense_Mutation_p.Q166R|ODF2L_ENST00000394731.1_Missense_Mutation_p.Q35R	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	166						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		CTTTTCACTCTGAAACAAACA	0.328000													3	66					0	0	0.115264	0	0
ZXDC	79364	broad.mit.edu	37	3	126157291	126157291	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:126157291G>A	ENST00000389709.3	-	10	2557	c.2504C>T	c.(2503-2505)tCa>tTa	p.S835L		NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	835	Interaction with CIITA.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GCCTCCAGATGAGGGGAGCAC	0.627000													4	33					0	0	0.184627	0	0
BPNT1	10380	broad.mit.edu	37	1	220240712	220240712	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:220240712G>C	ENST00000469520.2	-	7	855	c.406C>G	c.(406-408)Ctt>Gtt	p.L136V	BPNT1_ENST00000482136.1_5'UTR|BPNT1_ENST00000414869.2_Missense_Mutation_p.L100V|BPNT1_ENST00000354807.3_Missense_Mutation_p.L136V|BPNT1_ENST00000322067.7_Missense_Mutation_p.L136V|BPNT1_ENST00000544404.1_Missense_Mutation_p.L81V			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	136					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		ATTCCAATAAGAACTGTTACA	0.308000													6	92					0	0	0.217242	0	0
OR2G6	391211	broad.mit.edu	37	1	248685808	248685808	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:248685808C>T	ENST00000343414.4	+	1	893	c.861C>T	c.(859-861)ccC>ccT	p.P287P		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTTAAACCCCATTATCTACA	0.448000													15	45					0	0	0.500413	0	0
CACNA1S	779	broad.mit.edu	37	1	201061110	201061110	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:201061110C>T	ENST00000362061.3	-	4	757	c.531G>A	c.(529-531)tcG>tcA	p.S177S	CACNA1S_ENST00000367338.3_Silent_p.S177S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	177					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)	TAGGCACCCCCGACACCAGCC	0.612000													8	39					0	0	0.278610	0	0
MCMBP	79892	broad.mit.edu	37	10	121619343	121619343	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:121619343C>T	ENST00000360003.3	-	2	281	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	MCMBP_ENST00000369077.3_Missense_Mutation_p.E38K|MCMBP_ENST00000466047.1_5'UTR	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	38					cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						TTCAGCTTTTCCTTAAAATAC	0.353000													3	69					0	0	0.150653	0	0
TMEM63A	9725	broad.mit.edu	37	1	226034879	226034879	+	Silent	SNP	C	C	T	rs138912199		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:226034879C>T	ENST00000366835.3	-	24	2556	c.2286G>A	c.(2284-2286)tcG>tcA	p.S762S		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	762						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CTGTCCTCTCCGAGGCCAAGC	0.597000													12	198					0	0	0.500413	0	0
HTR4	3360	broad.mit.edu	37	5	147928367	147928367	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:147928367C>T	ENST00000360693.3	-	4	355	c.217G>A	c.(217-219)Gtg>Atg	p.V73M	HTR4_ENST00000377888.3_Missense_Mutation_p.V73M|HTR4_ENST00000521735.1_Missense_Mutation_p.V73M|HTR4_ENST00000314512.6_Missense_Mutation_p.V73M|HTR4_ENST00000517929.1_Missense_Mutation_p.V73M|HTR4_ENST00000521530.1_Missense_Mutation_p.V73M|HTR4_ENST00000520514.1_Missense_Mutation_p.V73M|HTR4_ENST00000362016.2_Missense_Mutation_p.V73M|HTR4_ENST00000354217.2_Missense_Mutation_p.V73M	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	73					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	AAGGGCATCACCAGCACCGAA	0.468000													5	66					0	0	0.248553	0	0
SLC22A2	6582	broad.mit.edu	37	6	160663435	160663435	+	Splice_Site	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:160663435C>G	ENST00000366953.3	-	8	1538		c.e8-1		SLC22A2_ENST00000491092.1_Splice_Site	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2						body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CATTGTAGATCTAAGAGGGAA	0.448000													8	65					0	0	0.307466	0	0
FAM111B	374393	broad.mit.edu	37	11	58893123	58893123	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:58893123C>G	ENST00000343597.3	+	4	1744	c.1553C>G	c.(1552-1554)aCt>aGt	p.T518S	FAM111B_ENST00000529618.1_Missense_Mutation_p.T488S|FAM111B_ENST00000411426.1_Missense_Mutation_p.T488S	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	518							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GTAACCTTCACTTATACAGAG	0.373000													13	147					0	0	0.500413	0	0
FGD6	55785	broad.mit.edu	37	12	95566467	95566467	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:95566467G>A	ENST00000343958.4	-	3	2718	c.2495C>T	c.(2494-2496)tCt>tTt	p.S832F	FGD6_ENST00000546711.1_Missense_Mutation_p.S832F|FGD6_ENST00000549499.1_Missense_Mutation_p.S832F	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	832				S -> P (in Ref. 3; CAD98096).	actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CTCCTCATCAGAGGGAAGGTC	0.433000													10	163					0	0	0.387290	0	0
APITD1-CORT	100526739	broad.mit.edu	37	1	10500432	10500432	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:10500432G>A	ENST00000400900.2	+	4	654	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	APITD1_ENST00000309048.3_Missense_Mutation_p.E80K|APITD1_ENST00000462462.1_3'UTR|APITD1-CORT_ENST00000465026.1_3'UTR|APITD1_ENST00000602296.1_Intron|APITD1-CORT_ENST00000470413.2_Intron|APITD1_ENST00000602787.1_Missense_Mutation_p.E80K			Q8N2Z9	CENPS_HUMAN		80					DNA repair|mitotic prometaphase|transcription initiation, DNA-dependent	chromosome, centromeric region|cytosol|Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding										AATTAACACTGAAGATGTGAA	0.393000													4	65					0	0	0.248553	0	0
ATRNL1	26033	broad.mit.edu	37	10	117040926	117040926	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr10:117040926G>T	ENST00000355044.3	+	14	2288	c.2162G>T	c.(2161-2163)aGc>aTc	p.S721I		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	721	PSI 3.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AAACTTACCAGCTGTAAAAGC	0.353000													11	66					2.31682e-05	2.4486e-05	0.479597	1	0
DVL2	1856	broad.mit.edu	37	17	7131015	7131015	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:7131015G>A	ENST00000005340.5	-	11	1472	c.1190C>T	c.(1189-1191)tCc>tTc	p.S397F	DVL2_ENST00000575458.1_Missense_Mutation_p.S391F	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	397					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GCTCATGGAGGAGGAACCTGG	0.597000													3	37					0	0	0.115264	0	0
GUCY2F	2986	broad.mit.edu	37	X	108708419	108708419	+	Silent	SNP	T	T	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:108708419T>G	ENST00000218006.2	-	3	1275	c.984A>C	c.(982-984)acA>acC	p.T328T		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	328					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CTGCTGCCTCTGTGAAGGCTT	0.468000													5	180					0	0	0.217242	0	0
SEH1L	81929	broad.mit.edu	37	18	12982593	12982593	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr18:12982593C>T	ENST00000262124.11	+	7	965	c.838C>T	c.(838-840)Cag>Tag	p.Q280*	SEH1L_ENST00000399892.2_Nonsense_Mutation_p.Q280*|SEH1L_ENST00000592582.1_3'UTR	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	280					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						TCATAATTCTCAGGTCTGGCG	0.413000													15	187					0	0	0.500413	0	0
AGO2	27161	broad.mit.edu	37	8	141549523	141549523	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:141549523C>A	ENST00000220592.5	-	16	2177	c.2065G>T	c.(2065-2067)Gag>Tag	p.E689*	AGO2_ENST00000519980.1_Nonsense_Mutation_p.E689*	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		ATACAGGCCTCACGGATGGCC	0.567000													6	111					2.17888e-05	2.30705e-05	0.335167	1	0
BIRC6	57448	broad.mit.edu	37	2	32673888	32673888	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:32673888G>A	ENST00000421745.2	+	22	4644	c.4510G>A	c.(4510-4512)Gat>Aat	p.D1504N		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1504					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTCACCATTTGATCCAGTCCT	0.313000													14	54					0	0	0.539581	0	0
AHR	196	broad.mit.edu	37	7	17382605	17382605	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:17382605C>T	ENST00000242057.4	+	11	3107	c.2464C>T	c.(2464-2466)Cag>Tag	p.Q822*		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	822				LNETYPAELNNINNTQTTTHLQPLHHPSEARPFPDLTSSGF L -> FK (in Ref. 1; BAA03857).	apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					AAATAACACTCAGACTACCAC	0.368000													20	135					0	0	0.639603	0	0
NRXN1	9378	broad.mit.edu	37	2	50850623	50850623	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:50850623C>T	ENST00000404971.1	-	7	2401	c.1062G>A	c.(1060-1062)atG>atA	p.M354I	NRXN1_ENST00000401669.2_Missense_Mutation_p.M321I|NRXN1_ENST00000402717.3_Missense_Mutation_p.M321I|NRXN1_ENST00000405472.3_Missense_Mutation_p.M321I|NRXN1_ENST00000406859.3_Missense_Mutation_p.M321I|NRXN1_ENST00000406316.2_Missense_Mutation_p.M321I|NRXN1_ENST00000331040.5_5'UTR	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	321	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CAGTGTGAAGCATCAGTCCAT	0.433000													22	181					0	0	0.706142	0	0
KCNQ1	3784	broad.mit.edu	37	11	2610039	2610039	+	Missense_Mutation	SNP	G	G	C	rs148266527		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:2610039G>C	ENST00000155840.5	+	10	1456	c.1348G>C	c.(1348-1350)Gag>Cag	p.E450Q	KCNQ1_ENST00000335475.5_Missense_Mutation_p.E323Q	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	450					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CCCCCCAGAAGAGCGGCGGCT	0.562000													4	15					0	0	0.184627	0	0
BRAF	673	broad.mit.edu	37	7	140494157	140494157	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:140494157G>A	ENST00000288602.6	-	8	1151	c.1091C>T	c.(1090-1092)tCa>tTa	p.S364L		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	364					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GGGAGCTGATGAGGATCGGTC	0.408000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				13	123					0	0	0.500413	0	0
CEP135	9662	broad.mit.edu	37	4	56819371	56819371	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:56819371G>C	ENST00000257287.4	+	3	358	c.234G>C	c.(232-234)ttG>ttC	p.L78F	CEP135_ENST00000422247.2_Missense_Mutation_p.L78F	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	78					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					ATGCAAGATTGAGTAGAGAAA	0.308000													5	67					0	0	0.184627	0	0
PDE1C	5137	broad.mit.edu	37	7	31862716	31862716	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:31862716C>T	ENST00000396184.3	-	15	1757	c.1553G>A	c.(1552-1554)cGg>cAg	p.R518Q	PDE1C_ENST00000396193.1_Missense_Mutation_p.R578Q|PDE1C_ENST00000321453.7_Missense_Mutation_p.R518Q|PDE1C_ENST00000396182.2_Missense_Mutation_p.R518Q|PDE1C_ENST00000396191.1_Missense_Mutation_p.R518Q	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	518	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CCATCTCTCCCGATTGATGTG	0.473000													11	185					0	0	0.387290	0	0
ZNF407	55628	broad.mit.edu	37	18	72343658	72343658	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr18:72343658C>T	ENST00000299687.5	+	1	683	c.683C>T	c.(682-684)tCa>tTa	p.S228L	ZNF407_ENST00000309902.6_Missense_Mutation_p.S228L|ZNF407_ENST00000582337.1_Missense_Mutation_p.S228L|ZNF407_ENST00000577538.1_Missense_Mutation_p.S228L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAGAGCAGCTCAGCACTACAT	0.438000													17	151					0	0	0.500413	0	0
HIST1H2AG	8969	broad.mit.edu	37	6	27101102	27101102	+	Silent	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:27101102C>A	ENST00000359193.2	+	1	271	c.252C>A	c.(250-252)ctC>ctA	p.L84L		NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	84					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						CGCGTCATCTCCAACTGGCCA	0.627000													18	144					1.10923e-09	1.2055e-09	0.639603	1	0
NCKIPSD	51517	broad.mit.edu	37	3	48719502	48719502	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:48719502C>T	ENST00000294129.2	-	4	693	c.574G>A	c.(574-576)Gag>Aag	p.E192K	NCKIPSD_ENST00000416649.2_Missense_Mutation_p.E185K|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.E192K	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	192	Pro-rich.				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATCAGGGCCTCGCGGTCTCGG	0.607000													3	51					0	0	0.150653	0	0
BRF1	2972	broad.mit.edu	37	14	105739145	105739145	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:105739145C>T	ENST00000546474.1	-	3	15311	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	BRF1_ENST00000327359.3_Missense_Mutation_p.V3M|BRF1_ENST00000440513.3_Missense_Mutation_p.V3M|BRF1_ENST00000379937.2_Missense_Mutation_p.V91M|BRF1_ENST00000548421.1_Missense_Mutation_p.V118M	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	118					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		TGCCTGCTCACGGCCATCTTG	0.632000													4	177					0	0	0.150653	0	0
PRDM7	11105	broad.mit.edu	37	16	90126823	90126823	+	Missense_Mutation	SNP	T	T	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:90126823T>G	ENST00000449207.2	-	9	1178	c.1159A>C	c.(1159-1161)Atg>Ctg	p.M387L	PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	387						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCATCCCCATACCAGACCAG	0.522000													4	96					0	0	0.150653	0	0
KRT72	140807	broad.mit.edu	37	12	52984645	52984645	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:52984645G>C	ENST00000293745.2	-	6	1149	c.1064C>G	c.(1063-1065)tCa>tGa	p.S355*	KRT72_ENST00000354310.4_Intron|KRT72_ENST00000398066.3_Nonsense_Mutation_p.S167*|KRT72_ENST00000537672.2_Nonsense_Mutation_p.S355*	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	355	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CCCTATCTCTGAGCGGATCCT	0.488000													12	98					0	0	0.457914	0	0
GRIPAP1	56850	broad.mit.edu	37	X	48855860	48855860	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:48855860C>G	ENST00000376423.4	-	2	131	c.99G>C	c.(97-99)aaG>aaC	p.K33N	GRIPAP1_ENST00000376441.1_Missense_Mutation_p.K33N|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.K33N|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.K33N			Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	33						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CAACACCATTCTTGCGTAGTT	0.552000													4	67					0	0	0.248553	0	0
C2orf16	84226	broad.mit.edu	37	2	27805353	27805353	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:27805353C>T	ENST00000408964.2	+	1	5965	c.5914C>T	c.(5914-5916)Ccc>Tcc	p.P1972S		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1972										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ACATAAAAATCCCAAAGCAGG	0.507000													19	188					0	0	0.667858	0	0
OR7C1	26664	broad.mit.edu	37	19	14910879	14910879	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:14910879G>T	ENST00000248073.2	-	1	144	c.70C>A	c.(70-72)Cag>Aag	p.Q24K	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	24					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AGAATGAACTGAATCTCTGAC	0.468000													6	159					3.59834e-05	3.78911e-05	0.217242	1	0
MAPK3	5595	broad.mit.edu	37	16	30134420	30134420	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:30134420G>A	ENST00000403394.1	-	1	210	c.111C>T	c.(109-111)gaC>gaT	p.D37D	MAPK3_ENST00000395202.1_Silent_p.D37D|MAPK3_ENST00000322266.5_Silent_p.D37D|MAPK3_ENST00000395199.3_Silent_p.D37D|MAPK3_ENST00000395200.1_Silent_p.D8D|MAPK3_ENST00000263025.4_Silent_p.D37D	NM_001040056.1	NP_001035145.1	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	37					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	GCGGGCCCACGTCGAACGGCT	0.751000													4	42					0	0	0.217242	0	0
RXFP2	122042	broad.mit.edu	37	13	32313816	32313816	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:32313816C>T	ENST00000298386.2	+	1	138	c.67C>T	c.(67-69)Cat>Tat	p.H23Y	RXFP2_ENST00000380314.1_Missense_Mutation_p.H23Y	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	23						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CTTTCTACTTCATTTCATCGT	0.333000													5	88					0	0	0.217242	0	0
TNK2	10188	broad.mit.edu	37	3	195608974	195608974	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:195608974G>A	ENST00000333602.6	-	6	1452	c.835C>T	c.(835-837)Cag>Tag	p.Q279*	TNK2_ENST00000392400.1_Nonsense_Mutation_p.Q279*|TNK2_ENST00000428187.1_Nonsense_Mutation_p.Q311*|TNK2_ENST00000381916.2_Nonsense_Mutation_p.Q342*|TNK2_ENST00000316664.3_Nonsense_Mutation_p.Q279*|TNK2_ENST00000468819.1_Intron	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	279	Protein kinase.				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TCGTCATTCTGAGGTAGTGCT	0.602000													6	77					0	0	0.278610	0	0
HCN1	348980	broad.mit.edu	37	5	45303797	45303797	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr5:45303797C>T	ENST00000303230.4	-	6	1579	c.1522G>A	c.(1522-1524)Gtg>Atg	p.V508M		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	508						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.V508M(1)		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						TTTTTACCCACGGCTCCTTCT	0.393000													14	92					0	0	0.500413	0	0
NLRC4	58484	broad.mit.edu	37	2	32475775	32475775	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:32475775G>C	ENST00000404025.2	-	5	1646	c.1158C>G	c.(1156-1158)ttC>ttG	p.F386L	NLRC4_ENST00000360906.5_Missense_Mutation_p.F386L|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.F386L			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	386	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)					GGCTCCGAATGAAGTCACTTG	0.468000													9	56					0	0	0.361761	0	0
NCOA1	8648	broad.mit.edu	37	2	24929921	24929921	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:24929921A>G	ENST00000405141.1	+	14	2293	c.1582A>G	c.(1582-1584)Aat>Gat	p.N528D	NCOA1_ENST00000395856.3_Missense_Mutation_p.N528D|NCOA1_ENST00000538539.1_Missense_Mutation_p.N528D|NCOA1_ENST00000406961.1_Missense_Mutation_p.N528D|NCOA1_ENST00000348332.3_Missense_Mutation_p.N528D|NCOA1_ENST00000288599.5_Missense_Mutation_p.N528D|NCOA1_ENST00000407230.1_Missense_Mutation_p.N377D			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	528	Interaction with STAT3.|Ser-rich.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCTGTAATAATAATAACCG	0.433000			T	PAX3	alveolar rhadomyosarcoma								3	121					0	0	0.115264	0	0
CLSTN3	9746	broad.mit.edu	37	12	7290563	7290563	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:7290563C>G	ENST00000537408.1	+	7	1797	c.1259C>G	c.(1258-1260)tCt>tGt	p.S420C	CLSTN3_ENST00000266546.6_Missense_Mutation_p.S408C			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	408					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GACGGCTTCTCTCACTACTCG	0.577000													15	105					0	0	0.539581	0	0
KCNB1	3745	broad.mit.edu	37	20	47990816	47990816	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:47990816C>T	ENST00000371741.4	-	2	1447	c.1281G>A	c.(1279-1281)gaG>gaA	p.E427E		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	427					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGATTGCTTTCTCCTGTCTCT	0.502000													4	125					0	0	0.150653	0	0
NTRK2	4915	broad.mit.edu	37	9	87338522	87338522	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:87338522C>T	ENST00000304053.6	+	7	1101	c.618C>T	c.(616-618)ctC>ctT	p.L206L	NTRK2_ENST00000277120.3_Silent_p.L206L|NTRK2_ENST00000359847.3_Silent_p.L206L|NTRK2_ENST00000395866.2_Silent_p.L50L|NTRK2_ENST00000376208.1_Silent_p.L206L|NTRK2_ENST00000323115.4_Silent_p.L206L|NTRK2_ENST00000376213.1_Silent_p.L206L|NTRK2_ENST00000395882.1_Silent_p.L206L|NTRK2_ENST00000376214.1_Silent_p.L206L	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	206	Ig-like C2-type 1.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						CACCTAACCTCACTGTGGAGG	0.408000										TSP Lung(25;0.17)			7	73					0	0	0.307466	0	0
ZP4	57829	broad.mit.edu	37	1	238049174	238049174	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:238049174G>A	ENST00000366570.4	-	7	1010	c.852C>T	c.(850-852)agC>agT	p.S284S	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	284	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.S284S(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGTAGCTGCAGCTGACATGGA	0.478000													5	68					0	0	0.184627	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162579	90162579	+	RNA	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:90162579C>T	ENST00000567960.1	+	0	1315				TUBB8P7_ENST00000564451.1_RNA																							AGGAGTATGCCGAGGAGGAGG	0.512000													4	163					0	0	0.150653	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42162962	42162962	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:42162962G>A	ENST00000444063.1	+	12	1500	c.1368G>A	c.(1366-1368)gaG>gaA	p.E456E	L3MBTL1_ENST00000418998.1_Silent_p.E524E|L3MBTL1_ENST00000373135.3_Silent_p.E456E|L3MBTL1_ENST00000373134.1_Silent_p.E456E|L3MBTL1_ENST00000427442.2_Silent_p.E524E			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	456					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TGAAGCTGGAGGCTGTGGACC	0.632000													6	101					0	0	0.307466	0	0
ABCC8	6833	broad.mit.edu	37	11	17483190	17483190	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:17483190G>A	ENST00000302539.4	-	5	887	c.762C>T	c.(760-762)ccC>ccT	p.P254P	ABCC8_ENST00000389817.3_Silent_p.P254P	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	254					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TCATGGCGATGGGCAGCTTCC	0.587000													4	86					0	0	0.184627	0	0
TTN	7273	broad.mit.edu	37	2	179482573	179482573	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:179482573G>A	ENST00000589042.1	-	253	47729	c.47505C>T	c.(47503-47505)gcC>gcT	p.A15835A	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Silent_p.A6962A|TTN_ENST00000591111.1_Silent_p.A14194A|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.A6895A|TTN_ENST00000460472.2_Silent_p.A6770A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.A13267A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14194	Fibronectin type-III 15.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCGATTTTGGGCTCTCACTC	0.463000													9	96					0	0	0.307466	0	0
CD300LB	124599	broad.mit.edu	37	17	72518922	72518922	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:72518922G>C	ENST00000392621.1	-	4	676	c.672C>G	c.(670-672)atC>atG	p.I224M		NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	187						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						AGTTCATGTAGATAGGCTGTT	0.537000													9	116					0	0	0.387290	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120312861	120312861	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:120312861A>G	ENST00000397843.2	+	15	1418	c.1252A>G	c.(1252-1254)Act>Gct	p.T418A	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.T315A|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.T399A	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	418	RGSL.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TTCCAAAGAAACTCGTCGCAT	0.358000			T	MLL	AML								4	50					0	0	0.150653	0	0
RGS9BP	388531	broad.mit.edu	37	19	33167295	33167295	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:33167295G>C	ENST00000334176.3	+	1	983	c.126G>C	c.(124-126)aaG>aaC	p.K42N		NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein	42					negative regulation of signal transduction	integral to membrane				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					AGCTGCAAAAGACGCGCCAGA	0.701000													3	27					0	0	0.115264	0	0
FBXO2	26232	broad.mit.edu	37	1	11708827	11708827	+	Missense_Mutation	SNP	C	C	G	rs149264736		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:11708827C>G	ENST00000354287.4	-	6	1156	c.815G>C	c.(814-816)gGg>gCg	p.G272A		NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN	F-box protein 2	272	FBA.				glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex	sugar binding|ubiquitin-protein ligase activity			kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		GTCCTGCCCCCCGTGCTCGAA	0.667000													9	127					0	0	0.387290	0	0
EFNB2	1948	broad.mit.edu	37	13	107147270	107147270	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:107147270C>A	ENST00000245323.4	-	4	721	c.572G>T	c.(571-573)gGa>gTa	p.G191V		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	191					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CGAACTTCTTCCATTTGTACC	0.393000													13	225					5.01169e-05	5.26777e-05	0.520397	1	0
KRTAP10-11	386678	broad.mit.edu	37	21	46066386	46066386	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr21:46066386C>T	ENST00000334670.8	+	1	56	c.11C>T	c.(10-12)tCc>tTc	p.S4F	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60411	KR109_HUMAN	keratin associated protein 10-11	4						keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						ATGGCCGCGTCCACCATGTCT	0.647000													5	222					0	0	0.248553	0	0
HRH1	3269	broad.mit.edu	37	3	11301168	11301168	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:11301168C>T	ENST00000397056.1	+	3	636	c.445C>T	c.(445-447)Ctg>Ttg	p.L149L	HRH1_ENST00000438284.2_Silent_p.L149L|HRH1_ENST00000431010.2_Silent_p.L149L	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	149					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GGCCACCATTCTGGGGGCCTG	0.542000													6	97					0	0	0.217242	0	0
TRIP4	9325	broad.mit.edu	37	15	64689913	64689913	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:64689913G>A	ENST00000261884.3	+	4	574	c.514G>A	c.(514-516)Gat>Aat	p.D172N	TRIP4_ENST00000559565.1_3'UTR	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	172					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						TCACCCTTGTGATTGCCTGGG	0.498000													6	84					0	0	0.217242	0	0
TMEM169	92691	broad.mit.edu	37	2	216965210	216965210	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:216965210C>G	ENST00000454545.1	+	4	1165	c.839C>G	c.(838-840)tCa>tGa	p.S280*	TMEM169_ENST00000295658.4_Nonsense_Mutation_p.S280*|TMEM169_ENST00000406027.2_Nonsense_Mutation_p.S280*|TMEM169_ENST00000437356.2_Nonsense_Mutation_p.S280*	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	280						integral to membrane				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACAATATCTCAAGCACTCTC	0.512000													7	84					0	0	0.278610	0	0
CARS	833	broad.mit.edu	37	11	3069173	3069173	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:3069173C>T	ENST00000380525.4	-	2	153	c.84G>A	c.(82-84)ctG>ctA	p.L28L	CARS_ENST00000401769.3_Intron|CARS_ENST00000397111.5_Intron|CARS_ENST00000278224.9_Intron|CARS_ENST00000397114.3_5'UTR	NM_001014437.2|NM_001194997.1	NP_001014437.1|NP_001181926.1	P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	0					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	GGTGCTCGTTCAGGGCTTGTG	0.637000			T	ALK	ALCL								5	28					0	0	0.184627	0	0
SORL1	6653	broad.mit.edu	37	11	121414368	121414368	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:121414368C>G	ENST00000260197.7	+	13	1926	c.1797C>G	c.(1795-1797)atC>atG	p.I599M	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	599					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TCTTCACCATCTTTGGCTCGA	0.512000													7	181					0	0	0.278610	0	0
OR2T33	391195	broad.mit.edu	37	1	248436919	248436919	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:248436919G>A	ENST00000318021.2	-	1	219	c.198C>T	c.(196-198)ctC>ctT	p.L66L		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			TCATGTCCATGAGGGAAAGTT	0.547000													10	198					0	0	0.387290	0	0
HTT	3064	broad.mit.edu	37	4	3214330	3214330	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:3214330G>A	ENST00000355072.5	+	49	6813	c.6668G>A	c.(6667-6669)cGg>cAg	p.R2223Q		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2223					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACTCTGGCCCGGGCCCTGGCA	0.552000													17	235					0	0	0.575678	0	0
DNAH2	146754	broad.mit.edu	37	17	7643790	7643790	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:7643790T>C	ENST00000572933.1	+	10	2889	c.1429T>C	c.(1429-1431)Tca>Cca	p.S477P	DNAH2_ENST00000570791.1_Missense_Mutation_p.S559P|DNAH2_ENST00000082259.3_Missense_Mutation_p.S559P|DNAH2_ENST00000389173.2_Missense_Mutation_p.S477P			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	477	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTGATCACCTCAGCCTTCGA	0.667000													13	219					0	0	0.500413	0	0
SAT2	112483	broad.mit.edu	37	17	7530510	7530510	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:7530510G>C	ENST00000269298.5	-	3	372	c.153C>G	c.(151-153)ttC>ttG	p.F51L	SAT2_ENST00000380466.2_5'UTR|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000574539.1_Intron|SAT2_ENST00000573566.1_Missense_Mutation_p.F51L|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000570547.1_Intron	NM_133491.3	NP_597998.1	Q96F10	SAT2_HUMAN	spermidine/spermine N1-acetyltransferase family member 2	51	N-acetyltransferase.					cytoplasm	diamine N-acetyltransferase activity	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	AACAGTGATAGAAAGGATTGT	0.547000													7	80					0	0	0.278610	0	0
FLNA	2316	broad.mit.edu	37	X	153596245	153596245	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:153596245C>T	ENST00000422373.1	-	3	835	c.587G>A	c.(586-588)cGg>cAg	p.R196Q	FLNA_ENST00000360319.4_Missense_Mutation_p.R196Q|FLNA_ENST00000344736.4_Missense_Mutation_p.R196Q|FLNA_ENST00000369850.3_Missense_Mutation_p.R196Q	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	196	Actin-binding.|CH 2.		R -> G (in OPD2).|R -> W (in OPD1).		actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCCAGGGCCCGGCCGCTCTG	0.692000													7	54					0	0	0.335167	0	0
NUP210	23225	broad.mit.edu	37	3	13401814	13401814	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:13401814G>T	ENST00000254508.5	-	15	2192	c.2110C>A	c.(2110-2112)Cag>Aag	p.Q704K		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	704					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CAGTGTTGCTGATAATTCCGG	0.577000													18	79					1.96292e-10	2.14543e-10	0.592651	1	0
ELAVL1	1994	broad.mit.edu	37	19	8056716	8056716	+	Splice_Site	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:8056716C>G	ENST00000407627.2	-	2	114		c.e2-1		ELAVL1_ENST00000596459.1_Splice_Site|ELAVL1_ENST00000593807.1_Splice_Site|ELAVL1_ENST00000351593.5_Splice_Site	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1						3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTTCAAAAATCTGCCAAGAGA	0.378000													6	30					0	0	0.248553	0	0
VSIG4	11326	broad.mit.edu	37	X	65253645	65253645	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:65253645C>G	ENST00000455586.2	-	2	209	c.83G>C	c.(82-84)aGt>aCt	p.S28T	VSIG4_ENST00000374737.4_Missense_Mutation_p.S28T|VSIG4_ENST00000412866.2_Missense_Mutation_p.S28T	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	28	Ig-like 1.				complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCTGTTACACTCTCTGGCAC	0.532000													7	96					0	0	0.335167	0	0
MAP2	4133	broad.mit.edu	37	2	210560669	210560669	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:210560669G>A	ENST00000360351.4	+	7	4281	c.3775G>A	c.(3775-3777)Gac>Aac	p.D1259N	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.D1255N|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1259					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TCAGATAACTGACCTGGGTGT	0.483000													14	84					0	0	0.479597	0	0
ATRN	8455	broad.mit.edu	37	20	3562848	3562848	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:3562848G>A	ENST00000262919.5	+	16	2679	c.2611G>A	c.(2611-2613)Gat>Aat	p.D871N	ATRN_ENST00000446916.2_Missense_Mutation_p.D871N	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	871	C-type lectin.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GTGCTGGGAAGATATGTCCCC	0.468000													12	94					0	0	0.457914	0	0
HERC2	8924	broad.mit.edu	37	15	28408392	28408392	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:28408392G>A	ENST00000261609.7	-	69	10702	c.10594C>T	c.(10594-10596)Cag>Tag	p.Q3532*		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3532					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCCAAGGCCTGAGGCTCCGGA	0.502000													7	108					0	0	0.278610	0	0
SLC35A5	55032	broad.mit.edu	37	3	112299549	112299549	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:112299549C>T	ENST00000492406.1	+	6	868	c.585C>T	c.(583-585)ttC>ttT	p.F195F	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	195						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						GCCTTCTTTTCAGAAGTGAGT	0.463000													10	70					0	0	0.387290	0	0
QARS	5859	broad.mit.edu	37	3	49137079	49137079	+	Splice_Site	SNP	G	G	A	rs141072684		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:49137079G>A	ENST00000306125.6	-	16	1727	c.1390C>T	c.(1390-1392)Cgc>Tgc	p.R464C	QARS_ENST00000414533.1_Splice_Site_p.R453C			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	464					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TAGGAAGAGCGTCTGGGGTGG	0.572000													16	44					0	0	0.520397	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19764521	19764521	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:19764521G>A	ENST00000397821.3	-	3	491	c.201C>T	c.(199-201)aaC>aaT	p.N67N	SH3KBP1_ENST00000379697.3_Silent_p.N67N|SH3KBP1_ENST00000379698.4_Silent_p.N30N	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	67					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CTGGAGCTTTGTTGGTGAGAG	0.398000													16	139					0	0	0.575678	0	0
ZDHHC24	254359	broad.mit.edu	37	11	66313210	66313210	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:66313210G>A	ENST00000310442.3	-	1	499	c.265C>T	c.(265-267)Ctg>Ttg	p.L89L	ZDHHC24_ENST00000526986.1_Silent_p.L89L|ZDHHC24_ENST00000525925.1_5'UTR	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	89						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						CCCTGGCCCAGACCGCGGCCG	0.701000													3	14					0	0	0.115264	0	0
FASTK	10922	broad.mit.edu	37	7	150777000	150777000	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:150777000G>A	ENST00000297532.6	-	2	169	c.92C>T	c.(91-93)tCa>tTa	p.S31L	FASTK_ENST00000482571.1_Missense_Mutation_p.S31L|FASTK_ENST00000540185.1_5'UTR|FASTK_ENST00000353841.2_Intron|FASTK_ENST00000489884.1_Intron	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	31					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GGAGTTGGGTGATGGAGACCC	0.582000													5	9					0	0	0.217242	0	0
WBSCR17	64409	broad.mit.edu	37	7	71036334	71036334	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:71036334C>G	ENST00000333538.5	+	6	1661	c.1027C>G	c.(1027-1029)Ctg>Gtg	p.L343V	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	343	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AATTGGTCTTCTGGATCCTGG	0.498000													9	154					0	0	0.361761	0	0
RAC1	5879	broad.mit.edu	37	7	6431604	6431604	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:6431604C>G	ENST00000348035.4	+	3	370	c.157C>G	c.(157-159)Ctg>Gtg	p.L53V	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.L53V	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	53					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	ACCGGTGAATCTGGGCTTATG	0.413000													9	129					0	0	0.335167	0	0
LRP12	29967	broad.mit.edu	37	8	105511661	105511661	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:105511661C>T	ENST00000276654.5	-	4	467	c.359G>A	c.(358-360)aGa>aAa	p.R120K	LRP12_ENST00000424843.2_Missense_Mutation_p.R101K	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	120	CUB 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ACCACAAGCTCTGTAACTTTC	0.373000													7	102					0	0	0.248553	0	0
RNF128	79589	broad.mit.edu	37	X	105970542	105970542	+	Silent	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:105970542T>C	ENST00000255499.2	+	1	649	c.399T>C	c.(397-399)caT>caC	p.H133H	RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	133	PA.					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						ACAAGATCCATCTGGCTTATG	0.597000													6	78					0	0	0.278610	0	0
SPATA5	166378	broad.mit.edu	37	4	123977578	123977578	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:123977578G>C	ENST00000274008.4	+	12	2185	c.2116G>C	c.(2116-2118)Gaa>Caa	p.E706Q	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5						cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TGGTGAATCTGAAAGAGCAGT	0.378000													5	55					0	0	0.278610	0	0
UACA	55075	broad.mit.edu	37	15	70959792	70959792	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:70959792C>G	ENST00000322954.6	-	16	3416	c.3231G>C	c.(3229-3231)caG>caC	p.Q1077H	UACA_ENST00000539319.1_Missense_Mutation_p.Q968H|UACA_ENST00000379983.2_Missense_Mutation_p.Q1064H|UACA_ENST00000560441.1_Missense_Mutation_p.Q1062H	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1077						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CCGTGTATTTCTGTGACAAGT	0.358000													7	51					0	0	0.248553	0	0
KCNN3	3782	broad.mit.edu	37	1	154698406	154698406	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:154698406G>A	ENST00000271915.4	-	5	2002	c.1687C>T	c.(1687-1689)Cag>Tag	p.Q563*	KCNN3_ENST00000358505.2_Nonsense_Mutation_p.Q250*|KCNN3_ENST00000361147.4_Nonsense_Mutation_p.Q258*	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			TTGGTGAGCTGAGTGTCCATC	0.557000													10	54					0	0	0.435327	0	0
TRAK1	22906	broad.mit.edu	37	3	42226217	42226217	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:42226217C>A	ENST00000327628.5	+	4	804	c.404C>A	c.(403-405)tCg>tAg	p.S135*	TRAK1_ENST00000396175.1_Nonsense_Mutation_p.S77*|TRAK1_ENST00000449246.1_Nonsense_Mutation_p.S61*|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Nonsense_Mutation_p.S77*	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	135	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						ATCGGCCAGTCGTTGTTGAAG	0.507000													12	180					1.36491e-13	1.50611e-13	0.435327	1	0
EEA1	8411	broad.mit.edu	37	12	93226360	93226360	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:93226360C>G	ENST00000322349.8	-	11	1446	c.1182G>C	c.(1180-1182)gaG>gaC	p.E394D		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	394					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GCTGCTTAAACTCCGCCTTTA	0.358000													9	201					0	0	0.387290	0	0
KMT2D	8085	broad.mit.edu	37	12	49445757	49445757	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr12:49445757G>C	ENST00000301067.7	-	10	1708	c.1709C>G	c.(1708-1710)tCt>tGt	p.S570C		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGACAGGCGAGATGCTTCAGG	0.592000													12	151					0	0	0.411799	0	0
ZNF285	26974	broad.mit.edu	37	19	44891132	44891132	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:44891132C>T	ENST00000330997.4	-	4	1339	c.1275G>A	c.(1273-1275)gaG>gaA	p.E425E	ZNF285_ENST00000544719.2_Silent_p.E425E|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Silent_p.E432E	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TATATGGTTTCTCCCCTGTGT	0.493000													8	67					0	0	0.335167	0	0
FGD2	221472	broad.mit.edu	37	6	36993665	36993665	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:36993665G>C	ENST00000274963.8	+	14	1727	c.1556G>C	c.(1555-1557)gGa>gCa	p.G519A		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	519					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TTCCTCACTGGAAATGTGCTG	0.612000													3	73					0	0	0.150653	0	0
CUL7	9820	broad.mit.edu	37	6	43012542	43012542	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:43012542C>G	ENST00000535468.1	-	16	3458	c.3372G>C	c.(3370-3372)aaG>aaC	p.K1124N	CUL7_ENST00000265348.3_Missense_Mutation_p.K1040N	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1040					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCCAGCAGGTCTTGCCCAGAG	0.597000													7	97					0	0	0.278610	0	0
BLZF1	8548	broad.mit.edu	37	1	169351299	169351299	+	Splice_Site	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:169351299G>A	ENST00000367808.3	+	6	1220		c.e6-1		BLZF1_ENST00000329281.2_Splice_Site			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1						cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					GTTCTATGCAGATTATTGGAG	0.358000													19	242					0	0	0.592651	0	0
SERTAD2	9792	broad.mit.edu	37	2	64863402	64863402	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:64863402C>T	ENST00000313349.3	-	2	901	c.604G>A	c.(604-606)Gag>Aag	p.E202K		NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	202					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						GTGCCAGCCTCGCTGGAGGTC	0.567000													24	77					0	0	0.693898	0	0
MED23	9439	broad.mit.edu	37	6	131923477	131923477	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:131923477G>T	ENST00000403834.3	-	17	2167	c.1994C>A	c.(1993-1995)tCa>tAa	p.S665*	MED23_ENST00000545957.1_Nonsense_Mutation_p.S300*|MED23_ENST00000368058.1_Nonsense_Mutation_p.S665*|MED23_ENST00000354577.4_Nonsense_Mutation_p.S665*|MED23_ENST00000368068.3_Nonsense_Mutation_p.S659*|MED23_ENST00000368053.4_Nonsense_Mutation_p.S665*|MED23_ENST00000539158.1_3'UTR|MED23_ENST00000368060.3_Nonsense_Mutation_p.S659*|MED23_ENST00000540546.1_Nonsense_Mutation_p.S665*			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	659					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)		TTGTACCTCTGAGCTACCTAA	0.403000													6	70					5.18039e-06	5.49522e-06	0.278610	1	0
NMRAL1	57407	broad.mit.edu	37	16	4511853	4511853	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:4511853C>T	ENST00000574733.1	-	6	1557	c.828G>A	c.(826-828)ctG>ctA	p.L276L	NMRAL1_ENST00000283429.6_Silent_p.L276L|NMRAL1_ENST00000574425.1_Silent_p.L276L|NMRAL1_ENST00000404295.3_Silent_p.L276L			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	276						nucleus|perinuclear region of cytoplasm	binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						GGTTGAGTCTCAGGGTCAGCT	0.622000													12	236					0	0	0.435327	0	0
ASGR2	433	broad.mit.edu	37	17	7017471	7017471	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:7017471C>T	ENST00000380952.2	-	2	353	c.89G>A	c.(88-90)aGg>aAg	p.R30K	ASGR2_ENST00000355035.5_Missense_Mutation_p.R30K|ASGR2_ENST00000254850.7_Intron|ASGR2_ENST00000446679.2_Intron	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	30					cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	GGGATTCAGCCTGCGAGTGCC	0.537000													11	115					0	0	0.435327	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110495274	110495274	+	Silent	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:110495274C>G	ENST00000378402.5	+	57	9620	c.9516C>G	c.(9514-9516)ctC>ctG	p.L3172L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3172	G8 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAACTAAGCTCTCAGAAACTG	0.388000										HNSCC(38;0.096)			5	38					0	0	0.248553	0	0
LRRC41	10489	broad.mit.edu	37	1	46744891	46744891	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:46744891C>T	ENST00000343304.6	-	9	2467	c.2182G>A	c.(2182-2184)Gag>Aag	p.E728K	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	728										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)					GATGAATCCTCTGAGAAAACA	0.542000													6	44					0	0	0.278610	0	0
ZNF721	170960	broad.mit.edu	37	4	466436	466436	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:466436A>G	ENST00000506646.1	-	2	216	c.58T>C	c.(58-60)Tgc>Cgc	p.C20R	ZNF721_ENST00000507078.1_5'UTR|ZNF721_ENST00000338977.5_Intron|ZNF721_ENST00000511833.2_5'UTR|ABCA11P_ENST00000451020.2_RNA					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						GGGTCCAGGCATTTCCACTCT	0.413000													4	126					0	0	0.217242	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70010646	70010646	+	RNA	SNP	G	G	A	rs149870591	by1000genomes	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:70010646G>A	ENST00000531894.1	-	0	3748					NR_003610.1																						CTGTAGGGCCGAAGAAGGGAA	0.478000													4	110					0	0	0.184627	0	0
HLA-G	3135	broad.mit.edu	37	6	29797699	29797699	+	Silent	SNP	G	G	A	rs139184078		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr6:29797699G>A	ENST00000428701.1	+	6	1180	c.1002G>A	c.(1000-1002)aaG>aaA	p.K334K	HLA-G_ENST00000376815.3_Silent_p.K150K|HLA-G_ENST00000376828.2_Silent_p.K339K|HLA-G_ENST00000376818.3_Silent_p.K242K|HLA-G_ENST00000360323.6_Silent_p.K334K	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	334					antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TGTGGAGAAAGAAGAGCTCAG	0.572000													13	89					0	0	0.457914	0	0
ZAK	51776	broad.mit.edu	37	2	174125798	174125798	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr2:174125798T>C	ENST00000375213.3	+	18	1562	c.1484T>C	c.(1483-1485)tTt>tCt	p.F495S	MLTK_ENST00000409176.2_Missense_Mutation_p.F495S|MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2																					CAGCCACCATTTGTAATGGAG	0.443000													3	104					0	0	0.115264	0	0
ABCC1	4363	broad.mit.edu	37	16	16219752	16219752	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr16:16219752C>T	ENST00000399408.2	+	27	4008	c.3833C>T	c.(3832-3834)tCa>tTa	p.S1278L	ABCC1_ENST00000399410.3_Missense_Mutation_p.S1268L|ABCC1_ENST00000345148.5_Missense_Mutation_p.S1268L|ABCC1_ENST00000346370.5_Missense_Mutation_p.S1212L|ABCC1_ENST00000349029.5_Missense_Mutation_p.S1153L|ABCC1_ENST00000351154.5_Missense_Mutation_p.S1209L			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1268					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AAGGAGTATTCAGAGACTGAG	0.537000													6	54					0	0	0.278610	0	0
NPHP3	27031	broad.mit.edu	37	3	132418250	132418250	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:132418250C>T	ENST00000326682.8	-	13	2008	c.1932G>A	c.(1930-1932)gtG>gtA	p.V644V	NPHP3_ENST00000337331.5_Silent_p.V644V			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	644					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTCTTACATTCACTGGCAGTG	0.323000													6	58					0	0	0.278610	0	0
OR10A6	390093	broad.mit.edu	37	11	7950137	7950137	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:7950137C>G	ENST00000309838.2	-	1	72	c.73G>C	c.(73-75)Ggg>Cgg	p.G25R		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAGAGCTGCCCCTGGAGCTCA	0.438000													4	89					0	0	0.150653	0	0
CSE1L	1434	broad.mit.edu	37	20	47706239	47706239	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:47706239G>A	ENST00000262982.2	+	19	2260	c.2137G>A	c.(2137-2139)Gaa>Aaa	p.E713K	CSE1L_ENST00000396192.3_Missense_Mutation_p.E657K|CSE1L_ENST00000542325.1_Missense_Mutation_p.E496K	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	713					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			AGCATTCTTAGAACGCGGTTC	0.418000													7	108					0	0	0.335167	0	0
ABCG1	9619	broad.mit.edu	37	21	43691217	43691217	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr21:43691217C>G	ENST00000398437.1	+	4	910	c.762C>G	c.(760-762)ttC>ttG	p.F254L	ABCG1_ENST00000398457.2_Missense_Mutation_p.F110L|ABCG1_ENST00000340588.4_Missense_Mutation_p.F216L|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Missense_Mutation_p.F119L|ABCG1_ENST00000347800.2_Missense_Mutation_p.F105L|ABCG1_ENST00000361802.2_Missense_Mutation_p.F108L|ABCG1_ENST00000398449.3_Missense_Mutation_p.F108L			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	108	ABC transporter.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CCGGGAAGTTCAATAGTGGTG	0.473000													12	125					0	0	0.479597	0	0
OR13G1	441933	broad.mit.edu	37	1	247836307	247836307	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:247836307C>A	ENST00000359688.2	-	1	58	c.37G>T	c.(37-39)Ggc>Tgc	p.G13C	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTGGTGAGGCCCAGAATAATG	0.413000													14	78					1.01871e-10	1.11555e-10	0.575678	1	0
TOX4	9878	broad.mit.edu	37	14	21960463	21960463	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr14:21960463G>A	ENST00000405508.1	+	7	1095	c.819G>A	c.(817-819)aaG>aaA	p.K273K	TOX4_ENST00000448790.2_Silent_p.K250K|TOX4_ENST00000262709.3_Silent_p.K273K			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	273						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		AGGTATATAAGAGGAAAACTG	0.358000													8	84					0	0	0.335167	0	0
ARPP21	10777	broad.mit.edu	37	3	35729240	35729240	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:35729240C>A	ENST00000187397.4	+	6	727	c.271C>A	c.(271-273)Cat>Aat	p.H91N	ARPP21_ENST00000417925.1_Missense_Mutation_p.H91N|ARPP21_ENST00000337271.5_Missense_Mutation_p.H91N|ARPP21_ENST00000444190.1_Missense_Mutation_p.H91N|ARPP21_ENST00000458225.1_Missense_Mutation_p.H91N	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	91						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						GGAATCAATTCATTTACAGCT	0.338000													11	92					1.15088e-07	1.23446e-07	0.500413	1	0
UBAC2	337867	broad.mit.edu	37	13	99992667	99992667	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr13:99992667G>C	ENST00000376440.2	+	5	1053	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q	UBAC2_ENST00000403766.3_Missense_Mutation_p.E219Q|UBAC2_ENST00000460562.1_3'UTR	NM_177967.3	NP_808882.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	219						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTGGACACTTGAACCCATCTT	0.527000													4	94					0	0	0.184627	0	0
ATP1A3	478	broad.mit.edu	37	19	42490310	42490310	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:42490310C>T	ENST00000545399.1	-	5	621	c.468G>A	c.(466-468)aaG>aaA	p.K156K	ATP1A3_ENST00000602133.1_Silent_p.K113K|ATP1A3_ENST00000302102.5_Silent_p.K143K|ATP1A3_ENST00000543770.1_Silent_p.K154K	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	143					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TCTTGGAGCTCTTGGCCTCCT	0.607000													15	155					0	0	0.539581	0	0
CROCC	9696	broad.mit.edu	37	1	17265447	17265447	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:17265447C>G	ENST00000375541.5	+	12	1487	c.1418C>G	c.(1417-1419)tCt>tGt	p.S473C	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	473					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CTGAGCGGCTCTGAGCGCACC	0.711000													6	109					0	0	0.361761	0	0
DCDC1	341019	broad.mit.edu	37	11	31329201	31329201	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:31329201G>A	ENST00000597505.1	-	2	418	c.419C>T	c.(418-420)cCa>cTa	p.P140L	RP1-296L11.1_ENST00000528872.1_RNA|DCDC1_ENST00000452803.1_Missense_Mutation_p.P140L			P59894	DCDC1_HUMAN	doublecortin domain containing 1	140					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)					TTGACCCACTGGAGCACTGAC	0.358000													12	95					0	0	0.479597	0	0
POMGNT1	55624	broad.mit.edu	37	1	46661740	46661740	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:46661740C>A	ENST00000396420.3	-	5	1000	c.364G>T	c.(364-366)Gat>Tat	p.D122Y	POMGNT1_ENST00000371986.3_Missense_Mutation_p.D122Y|POMGNT1_ENST00000371992.1_Missense_Mutation_p.D122Y|POMGNT1_ENST00000535522.1_Missense_Mutation_p.D100Y|POMGNT1_ENST00000371984.3_Missense_Mutation_p.D122Y			Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	122					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					CGGGCCTCATCCTCCAGCACC	0.567000													4	83					0.00024832	0.000257252	0.150653	1	0
ZNF878	729747	broad.mit.edu	37	19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:12155673A>C	ENST00000602107.1	-	5	683	c.684T>G	c.(682-684)agT>agG	p.S228R	ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403000													4	298					0	0	0.184627	0	0
KDR	3791	broad.mit.edu	37	4	55958791	55958791	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr4:55958791G>A	ENST00000263923.4	-	22	3357	c.3062C>T	c.(3061-3063)tCg>tTg	p.S1021L		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1021	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TACCTTTCGCGATGCCAAGAA	0.458000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			7	59					0	0	0.278610	0	0
UPF3B	65109	broad.mit.edu	37	X	118977197	118977197	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:118977197C>G	ENST00000276201.2	-	5	606	c.537G>C	c.(535-537)gaG>gaC	p.E179D	UPF3B_ENST00000345865.2_Missense_Mutation_p.E179D|UPF3B_ENST00000478840.1_5'UTR	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	179	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						CTAGCAGTGTCTCTGGAGTAG	0.338000													7	154					0	0	0.361761	0	0
PCNT	5116	broad.mit.edu	37	21	47754463	47754463	+	Silent	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr21:47754463A>G	ENST00000359568.5	+	3	527	c.420A>G	c.(418-420)ccA>ccG	p.P140P	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	140					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	p.P140P(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACCACCCACCAGAACAGCGTG	0.542000													3	85					0	0	0.115264	0	0
ALG13	79868	broad.mit.edu	37	X	110970869	110970869	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:110970869G>A	ENST00000394780.3	+	18	2130	c.2118G>A	c.(2116-2118)atG>atA	p.M706I	ALG13_ENST00000251943.4_Missense_Mutation_p.M602I|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	706					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						ACCGCCAGATGAGTTGTGTGA	0.358000													3	25					0	0	0.150653	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64595223	64595223	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:64595223C>T	ENST00000342711.5	-	31	3999	c.4000G>A	c.(4000-4002)Gag>Aag	p.E1334K		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1334	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						ATGGAGTTCTCGCTGAACACT	0.637000													7	84					0	0	0.307466	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675233	40675233	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:40675233G>A	ENST00000416151.2	+	1	312	c.197G>A	c.(196-198)cGg>cAg	p.R66Q	KNSTRN_ENST00000608100.1_5'UTR|KNSTRN_ENST00000448395.2_Missense_Mutation_p.R66Q|KNSTRN_ENST00000249776.8_Missense_Mutation_p.R66Q	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		GGGCAGGACCGGCGGGCTCCT	0.592000													10	136					0	0	0.361761	0	0
RHEB	6009	broad.mit.edu	37	7	151188091	151188091	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:151188091G>A	ENST00000262187.5	-	2	474	c.62C>T	c.(61-63)tCa>tTa	p.S21L	RHEB_ENST00000496004.1_5'UTR|RHEB_ENST00000472642.1_5'UTR	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	21					cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|metal ion binding|protein binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		AATCGTCAATGAGGATTTCCC	0.323000													4	69					0	0	0.150653	0	0
KCNK6	9424	broad.mit.edu	37	19	38817601	38817601	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr19:38817601C>T	ENST00000263372.3	+	2	798	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	231						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CCAGCCCTACCGGGCCCTCTA	0.627000													16	125					0	0	0.520397	0	0
TRMT10C	54931	broad.mit.edu	37	3	101283942	101283942	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:101283942G>C	ENST00000309922.6	+	2	471	c.317G>C	c.(316-318)aGa>aCa	p.R106T		NM_017819.2	NP_060289.2			tRNA methyltransferase 10 homolog C (S. cerevisiae)																		TTGCTTGGCAGAGAAGTACCA	0.373000													9	116					0	0	0.411799	0	0
KCND2	3751	broad.mit.edu	37	7	119915122	119915122	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr7:119915122G>T	ENST00000331113.4	+	1	1401	c.436G>T	c.(436-438)Gag>Tag	p.E146*		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	146					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					AGAGAACGCCGAGCGCCTGCA	0.607000													8	78					0.0477658	0.0483534	0.307466	1	0
TMEM82	388595	broad.mit.edu	37	1	16074093	16074093	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:16074093C>T	ENST00000375782.1	+	6	1136	c.998C>T	c.(997-999)tCg>tTg	p.S333L	RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	333						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCTGCCCTCGGCACCCCAG	0.607000													5	134					0	0	0.184627	0	0
LRRK2	120892	broad.mit.edu	37	12	40631899	40631899	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr12:40631899G>A	ENST00000298910.7	+	5	623	c.565G>A	c.(565-567)Gag>Aag	p.E189K	LRRK2_ENST00000343742.2_Missense_Mutation_p.E189K	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	189					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGTGCTGTTTGAGAGAGGTAT	0.318000													8	59					0	0	0.307466	0	0
ADIPOR2	79602	broad.mit.edu	37	12	1895205	1895205	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr12:1895205C>T	ENST00000357103.4	+	8	1379	c.1128C>T	c.(1126-1128)atC>atT	p.I376I		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	376					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			GTTTCATGATCGGCGGGGGCT	0.532000													7	117					0	0	0.248553	0	0
TRANK1	9881	broad.mit.edu	37	3	36896768	36896768	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:36896768C>A	ENST00000301807.6	-	12	4560	c.2663G>T	c.(2662-2664)cGc>cTc	p.R888L	TRANK1_ENST00000428977.2_Missense_Mutation_p.R888L|TRANK1_ENST00000429976.2_Missense_Mutation_p.R1438L			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1438					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						GAACAGAGAGCGCAGATCGCT	0.542000													21	133					9.95505e-16	1.10271e-15	0.624587	1	0
CRB1	23418	broad.mit.edu	37	1	197390669	197390669	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:197390669G>A	ENST00000367400.3	+	6	1846	c.1711G>A	c.(1711-1713)Gag>Aag	p.E571K	CRB1_ENST00000544212.1_Missense_Mutation_p.E52K|CRB1_ENST00000367399.2_Missense_Mutation_p.E459K|CRB1_ENST00000535699.1_Missense_Mutation_p.E502K|CRB1_ENST00000543483.1_Missense_Mutation_p.E270K|CRB1_ENST00000538660.1_Missense_Mutation_p.E571K|CRB1_ENST00000367397.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	571	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GCATTTCGTGGAGGTAATATT	0.448000													6	159					0	0	0.278610	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299261	125299261	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chrX:125299261G>T	ENST00000538699.1	-	2	727	c.647C>A	c.(646-648)aCc>aAc	p.T216N	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.T216N	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	216								p.T216I(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CAGAGCCACGGTGCCGTCGCG	0.637000													15	76					7.07596e-05	7.42396e-05	0.539581	1	0
SLC26A7	115111	broad.mit.edu	37	8	92374633	92374633	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr8:92374633G>C	ENST00000276609.3	+	12	1606	c.1367G>C	c.(1366-1368)gGa>gCa	p.G456A	SLC26A7_ENST00000309536.2_Missense_Mutation_p.G456A|SLC26A7_ENST00000523719.1_Missense_Mutation_p.G456A|SLC26A7_ENST00000520249.1_3'UTR	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	456						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GCCAATGTGGGACTGCTGTTT	0.393000													27	302					0	0	0.788014	0	0
SLC26A11	284129	broad.mit.edu	37	17	78220397	78220397	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:78220397G>A	ENST00000361193.3	+	13	1523	c.1243G>A	c.(1243-1245)Gtg>Atg	p.V415M	SLC26A11_ENST00000572725.1_Missense_Mutation_p.V415M|SLC26A11_ENST00000411502.3_Missense_Mutation_p.V415M|SLC26A11_ENST00000546047.2_Missense_Mutation_p.V415M	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	415				V -> A (in Ref. 2; AAO26673).		endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CATCATGGCCGTGGCCCCGCT	0.592000													4	60					0	0	0.150653	0	0
PLGRKT	55848	broad.mit.edu	37	9	5358254	5358254	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr9:5358254G>C	ENST00000223864.2	-	6	650	c.429C>G	c.(427-429)ttC>ttG	p.F143L		NM_018465.3	NP_060935.2	Q9HBL7	CI046_HUMAN	plasminogen receptor, C-terminal lysine transmembrane protein	143						integral to membrane											TGTCTATGAAGAATCTACTCT	0.338000													6	112					0	0	0.307466	0	0
WDR41	55255	broad.mit.edu	37	5	76736796	76736796	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr5:76736796C>A	ENST00000296679.4	-	9	1099	c.724G>T	c.(724-726)Gtc>Ttc	p.V242F	WDR41_ENST00000414719.2_5'UTR|WDR41_ENST00000507029.1_Missense_Mutation_p.V187F	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	242										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		AGCTCTCCGACGTGGGAGCCG	0.458000													5	48					0.014758	0.0149658	0.184627	1	0
CHD7	55636	broad.mit.edu	37	8	61749458	61749458	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr8:61749458G>A	ENST00000423902.2	+	17	4551	c.4072G>A	c.(4072-4074)Gat>Aat	p.D1358N	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1358	Helicase C-terminal.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ACCTGATTCTGATAGGTTTGT	0.483000													53	198					0	0	0.870114	0	0
KIAA1524	57650	broad.mit.edu	37	3	108273331	108273331	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:108273331T>C	ENST00000295746.8	-	18	2292	c.2216A>G	c.(2215-2217)gAa>gGa	p.E739G	KIAA1524_ENST00000491772.1_Missense_Mutation_p.E580G	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	739						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTCAGTACTTTCATTTCTGAA	0.323000													2	8					0	0	0.115264	0	0
CLASRP	11129	broad.mit.edu	37	19	45563675	45563675	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:45563675G>A	ENST00000544944.2	+	8	1431	c.739G>A	c.(739-741)Gag>Aag	p.E247K	CLASRP_ENST00000221455.3_Missense_Mutation_p.E247K|CLASRP_ENST00000391953.4_Missense_Mutation_p.E185K			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	247					mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GGAGGAGGCAGAGGCCATCAA	0.587000													8	105					0	0	0.361761	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751513	140751513	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr5:140751513C>T	ENST00000576222.1	+	1	1683	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCGCGCAGCGAGCCTTCGA	0.677000													5	73					0	0	0.217242	0	0
MAGI3	260425	broad.mit.edu	37	1	114128166	114128166	+	Silent	SNP	T	T	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:114128166T>G	ENST00000369615.1	+	4	773	c.711T>G	c.(709-711)ccT>ccG	p.P237P	MAGI3_ENST00000369617.4_Silent_p.P237P|MAGI3_ENST00000307546.9_Silent_p.P237P|MAGI3_ENST00000369611.4_Silent_p.P237P	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	237	Guanylate kinase-like.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTCTCTTCCTGAAGAGGAAG	0.383000													11	57					0	0	0.411799	0	0
C7orf34	135927	broad.mit.edu	37	7	142636653	142636653	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr7:142636653G>A	ENST00000409607.3	+	1	51	c.10G>A	c.(10-12)Gag>Aag	p.E4K		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	0						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					AATGGGGCAGGAGGTGCACGG	0.627000													5	36					0	0	0.248553	0	0
POMGNT1	55624	broad.mit.edu	37	1	46661728	46661728	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:46661728C>T	ENST00000396420.3	-	5	1012	c.376G>A	c.(376-378)Gag>Aag	p.E126K	POMGNT1_ENST00000371986.3_Missense_Mutation_p.E126K|POMGNT1_ENST00000535522.1_Missense_Mutation_p.E104K|POMGNT1_ENST00000371984.3_Missense_Mutation_p.E126K|POMGNT1_ENST00000371992.1_Missense_Mutation_p.E126K			Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	126					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					CGGCCCTGCTCCCGGGCCTCA	0.572000													6	90					0	0	0.217242	0	0
MFGE8	4240	broad.mit.edu	37	15	89442994	89442994	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr15:89442994C>A	ENST00000539437.1	-	8	1031	c.895G>T	c.(895-897)Gcc>Tcc	p.A299S	MFGE8_ENST00000542878.1_Missense_Mutation_p.A263S|MFGE8_ENST00000268150.8_Missense_Mutation_p.A307S|MFGE8_ENST00000268151.7_Intron|MFGE8_ENST00000566497.1_Missense_Mutation_p.A307S			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	307	F5/8 type C 2.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					AAGTTACGGGCCCCCTGGGTG	0.542000													7	50					8.12818e-05	8.51243e-05	0.248553	1	0
LARP4	113251	broad.mit.edu	37	12	50829320	50829320	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr12:50829320C>T	ENST00000398473.2	+	5	560	c.448C>T	c.(448-450)Cag>Tag	p.Q150*	LARP4_ENST00000522085.1_Nonsense_Mutation_p.Q150*|LARP4_ENST00000347328.5_Nonsense_Mutation_p.Q150*|LARP4_ENST00000518444.1_Nonsense_Mutation_p.Q149*|LARP4_ENST00000429001.3_Nonsense_Mutation_p.Q156*|LARP4_ENST00000518561.1_Nonsense_Mutation_p.Q80*|LARP4_ENST00000293618.8_Nonsense_Mutation_p.Q150*	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	150	HTH La-type RNA-binding.						nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GGATAGTGATCAGTTCATCCC	0.299000													5	47					0	0	0.278610	0	0
SMO	6608	broad.mit.edu	37	7	128845541	128845541	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr7:128845541G>T	ENST00000249373.3	+	4	1118	c.838G>T	c.(838-840)Ggc>Tgc	p.G280C		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	280					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GGGCAGCATTGGCTGGCTGGC	0.582000			Mis		skin basal cell								19	79					4.26978e-12	4.70247e-12	0.654019	1	0
NLK	51701	broad.mit.edu	37	17	26449721	26449721	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:26449721G>A	ENST00000407008.3	+	2	1269	c.551G>A	c.(550-552)cGg>cAg	p.R184Q		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	184	Protein kinase.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGGGTCTTCCGGGAATTGAAG	0.393000													7	90					0	0	0.278610	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561190	145561190	+	Missense_Mutation	SNP	C	C	T	rs80055280	by1000genomes	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:145561190C>T	ENST00000355594.4	+	10	965	c.878C>T	c.(877-879)cCg>cTg	p.P293L		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	293										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GATGAAGACCCGTGCTCGGAG	0.547000													6	49					0	0	0.248553	0	0
MCM10	55388	broad.mit.edu	37	10	13225055	13225055	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr10:13225055G>A	ENST00000378694.1	+	7	1128	c.1053G>A	c.(1051-1053)ggG>ggA	p.G351G	MCM10_ENST00000378714.3_Silent_p.G351G|MCM10_ENST00000484800.2_Silent_p.G352G			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	352					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CTGTCGTAGGGATCCTCAATG	0.463000													14	123					0	0	0.539581	0	0
TBX15	6913	broad.mit.edu	37	1	119427557	119427557	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:119427557C>T	ENST00000369429.3	-	8	1616	c.1607G>A	c.(1606-1608)aGc>aAc	p.S536N	TBX15_ENST00000207157.3_Missense_Mutation_p.S430N			Q96SF7	TBX15_HUMAN	T-box 15	536						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TTGAGAGGCGCTCAGTTTTTC	0.522000													4	43					0	0	0.184627	0	0
TXNDC11	51061	broad.mit.edu	37	16	11824584	11824584	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr16:11824584C>G	ENST00000356957.3	-	4	723	c.616G>C	c.(616-618)Gag>Cag	p.E206Q	TXNDC11_ENST00000283033.5_Missense_Mutation_p.E206Q			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	206	Thioredoxin 1.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ACAAACTTCTCAATGTAAACA	0.343000													5	115					0	0	0.184627	0	0
PARP1	142	broad.mit.edu	37	1	226564877	226564877	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:226564877C>T	ENST00000366794.5	-	13	2016	c.1873G>A	c.(1873-1875)Gct>Act	p.A625T		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	625					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	p.A625T(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GAGTGCCAAGCGTTCCCGGTT	0.458000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					84	241					0	0	0.870114	0	0
CCDC121	79635	broad.mit.edu	37	2	27850025	27850025	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:27850025C>G	ENST00000324364.3	-	2	822	c.642G>C	c.(640-642)caG>caC	p.Q214H	RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_Intron|CCDC121_ENST00000394775.3_Missense_Mutation_p.Q376H	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	214										breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					CCGTTAGTTTCTGGGCTTGCT	0.478000													9	38					0	0	0.307466	0	0
CALCR	799	broad.mit.edu	37	7	93108727	93108727	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr7:93108727C>T	ENST00000359558.2	-	5	497	c.198G>A	c.(196-198)atG>atA	p.M66I	CALCR_ENST00000426151.1_Missense_Mutation_p.M48I|CALCR_ENST00000360249.4_Missense_Mutation_p.M48I|CALCR_ENST00000394441.1_Missense_Mutation_p.M48I|CALCR_ENST00000421592.1_Missense_Mutation_p.M48I	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	48					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GTGCATCCATCATCTTCTTTC	0.413000													16	209					0	0	0.624587	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27900720	27900720	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:27900720G>A	ENST00000326019.6	+	8	1974	c.1692G>A	c.(1690-1692)ctG>ctA	p.L564L		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	564						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					CTTTTGAACTGAGGAAAGAAC	0.358000													10	68					0	0	0.387290	0	0
SBF2	81846	broad.mit.edu	37	11	9851008	9851008	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr11:9851008C>T	ENST00000256190.8	-	28	3825	c.3688G>A	c.(3688-3690)Gaa>Aaa	p.E1230K		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1230	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TTCTCTTGTTCTATGCTACTG	0.378000													5	93					0	0	0.248553	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150131673	150131673	+	Silent	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:150131673C>G	ENST00000369124.4	+	6	1463	c.1185C>G	c.(1183-1185)ctC>ctG	p.L395L	PLEKHO1_ENST00000369126.1_Silent_p.L212L|PLEKHO1_ENST00000025469.6_Silent_p.L361L	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	395	Negative regulator of AP-1 activity.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTCCCACCTCAGACAGACCA	0.587000													8	41					0	0	0.361761	0	0
ZNF407	55628	broad.mit.edu	37	18	72343115	72343115	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr18:72343115C>T	ENST00000299687.5	+	1	140	c.140C>T	c.(139-141)tCt>tTt	p.S47F	ZNF407_ENST00000582337.1_Missense_Mutation_p.S47F|ZNF407_ENST00000577538.1_Missense_Mutation_p.S47F|ZNF407_ENST00000309902.6_Missense_Mutation_p.S47F	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CCTGAGAATTCTATGGGCAAA	0.388000													3	33					0	0	0.115264	0	0
NBN	4683	broad.mit.edu	37	8	90990452	90990452	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr8:90990452C>T	ENST00000265433.3	-	5	734	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	NBN_ENST00000409330.1_Missense_Mutation_p.E112K	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	194					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ATATACCTTTCAATTTGTGGA	0.323000								Homologous recombination					5	71					0	0	0.184627	0	0
NUP107	57122	broad.mit.edu	37	12	69121157	69121157	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr12:69121157G>C	ENST00000229179.4	+	20	2054	c.1722G>C	c.(1720-1722)aaG>aaC	p.K574N	NUP107_ENST00000378905.2_Missense_Mutation_p.K423N|NUP107_ENST00000539906.1_Missense_Mutation_p.K545N	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	574					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AAGTTTTAAAGACATACATAC	0.269000													4	83					0	0	0.184627	0	0
GCNT4	51301	broad.mit.edu	37	5	74325759	74325759	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr5:74325759C>A	ENST00000322348.4	-	1	965	c.104G>T	c.(103-105)aGa>aTa	p.R35I		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	35					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		AAAGAGTCGTCTCACATTTAG	0.368000													6	223					0.000274275	0.000283631	0.307466	1	0
INTS3	65123	broad.mit.edu	37	1	153701226	153701226	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:153701226C>T	ENST00000318967.2	+	1	684	c.116C>T	c.(115-117)tCa>tTa	p.S39L	INTS3_ENST00000435409.2_Missense_Mutation_p.S39L|INTS3_ENST00000456435.1_5'UTR	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	39					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGCTACTTTCAACCAGTTTG	0.607000													9	165					0	0	0.361761	0	0
HNRNPL	3191	broad.mit.edu	37	19	39330801	39330801	+	Missense_Mutation	SNP	C	C	G	rs115791874	by1000genomes	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:39330801C>G	ENST00000221419.5	-	8	1534	c.1168G>C	c.(1168-1170)Gat>Cat	p.D390H	HNRNPL_ENST00000600873.1_Missense_Mutation_p.D257H|AC104534.3_ENST00000594769.1_Missense_Mutation_p.W6C	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	390	RRM 3.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	p.D390H(1)|p.D257H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TTAGATTGATCCAAGCCATAG	0.597000													4	102					0	0	0.217242	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543034	182543034	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:182543034G>A	ENST00000295108.3	-	2	1011	c.554C>T	c.(553-555)gCg>gTg	p.A185V	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	185				A -> G (in Ref. 2; BAA11558 and 5; BAA87605).	amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CAGGCAGCCCGCAACCAGGTT	0.612000													6	59					0	0	0.217242	0	0
DENND1B	163486	broad.mit.edu	37	1	197641247	197641247	+	Silent	SNP	T	T	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:197641247T>G	ENST00000235453.4	-	6	463	c.186A>C	c.(184-186)gtA>gtC	p.V62V	DENND1B_ENST00000367396.3_Silent_p.V72V|DENND1B_ENST00000400967.2_Silent_p.V62V			Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	72	UDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						TGTCTGTCAGTACAAAGGTAA	0.358000													9	43					0	0	0.387290	0	0
NPAS4	266743	broad.mit.edu	37	11	66188815	66188815	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr11:66188815C>G	ENST00000311034.2	+	1	341	c.165C>G	c.(163-165)ttC>ttG	p.F55L		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	55					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						AGGGCGTCTTCTTCGCTGGTG	0.647000													3	65					0	0	0.115264	0	0
GYS1	2997	broad.mit.edu	37	19	49481235	49481235	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:49481235C>G	ENST00000323798.3	-	10	1450	c.1254G>C	c.(1252-1254)aaG>aaC	p.K418N	GYS1_ENST00000263276.6_Missense_Mutation_p.K354N|GYS1_ENST00000541188.1_Missense_Mutation_p.K338N|GYS1_ENST00000540532.1_3'UTR|GYS1_ENST00000544287.1_Missense_Mutation_p.K51N	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	418					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TATCCAGCATCTTGTTCATGT	0.537000													4	115					0	0	0.184627	0	0
ZRSR2	8233	broad.mit.edu	37	X	15818001	15818001	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chrX:15818001C>G	ENST00000307771.7	+	3	152	c.128C>G	c.(127-129)tCa>tGa	p.S43*	ZRSR2_ENST00000380308.3_Nonsense_Mutation_p.S43*|ZRSR2_ENST00000468028.1_3'UTR	NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	43					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					CTAGGACTCTCACAGAAGGAG	0.328000			"""F, S, Mis"""		"""MDS, CLL"""								5	66					0	0	0.184627	0	0
STAU1	6780	broad.mit.edu	37	20	47734330	47734330	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr20:47734330C>T	ENST00000371828.3	-	11	1755	c.1268G>A	c.(1267-1269)aGa>aAa	p.R423K	STAU1_ENST00000340954.7_Missense_Mutation_p.R417K|STAU1_ENST00000360426.4_Missense_Mutation_p.R417K|STAU1_ENST00000347458.5_Missense_Mutation_p.R417K|STAU1_ENST00000371856.2_Missense_Mutation_p.R498K|STAU1_ENST00000371792.1_Missense_Mutation_p.R415K|STAU1_ENST00000371802.1_Missense_Mutation_p.R423K	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	498						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TCCCTGGACTCTGGAAAGATA	0.498000													9	68					0	0	0.335167	0	0
ATP2B3	492	broad.mit.edu	37	X	152821836	152821836	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chrX:152821836G>A	ENST00000370186.1	+	13	2570	c.2244G>A	c.(2242-2244)ctG>ctA	p.L748L	ATP2B3_ENST00000359149.3_Silent_p.L762L|ATP2B3_ENST00000263519.4_Silent_p.L762L|ATP2B3_ENST00000370181.2_Silent_p.L748L|ATP2B3_ENST00000349466.2_Silent_p.L762L|ATP2B3_ENST00000393842.1_Silent_p.L748L			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	762					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGAGGGTGCTGGCCCGGTCGT	0.652000													3	24					0	0	0.115264	0	0
ZNF582	147948	broad.mit.edu	37	19	56896256	56896256	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:56896256C>G	ENST00000301310.4	-	5	688	c.530G>C	c.(529-531)aGa>aCa	p.R177T	ZNF582_ENST00000586929.1_Missense_Mutation_p.R177T	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GAAGTCTTTTCTACATTTATT	0.328000													3	41					0	0	0.115264	0	0
GNRH1	2796	broad.mit.edu	37	8	25280738	25280738	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr8:25280738C>T	ENST00000276414.4	-	1	1432	c.109G>A	c.(109-111)Gat>Aat	p.D37N	GNRH1_ENST00000421054.2_Missense_Mutation_p.D37N	NM_000825.3	NP_000816.4	P01148	GON1_HUMAN	gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)	37					cell-cell signaling|multicellular organismal development|negative regulation of cell proliferation|signal transduction	soluble fraction	gonadotropin hormone-releasing hormone activity			large_intestine(1)	1		all_cancers(63;0.0423)|Ovarian(32;0.000626)|all_epithelial(46;0.0186)|Hepatocellular(4;0.114)|Breast(100;0.14)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0201)|Epithelial(17;1.25e-12)|Colorectal(74;0.0113)|COAD - Colon adenocarcinoma(73;0.0385)		TTTTCGGCATCTCTCTTTCCT	0.408000													11	142					0	0	0.435327	0	0
GEMIN8	54960	broad.mit.edu	37	X	14027076	14027076	+	Silent	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chrX:14027076G>T	ENST00000380523.4	-	5	1003	c.685C>A	c.(685-687)Cga>Aga	p.R229R	GEMIN8_ENST00000398355.3_Silent_p.R229R	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	229					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						GGCTGCTTTCGGTCACAGTGC	0.592000													10	144					9.70103e-10	1.05829e-09	0.361761	1	0
PIK3CA	5290	broad.mit.edu	37	3	178927486	178927486	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:178927486G>A	ENST00000263967.3	+	7	1406	c.1249G>A	c.(1249-1251)Gag>Aag	p.E417K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	417	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GGGTGCTAAAGAGGTAAAGTA	0.343000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			14	91					0	0	0.479597	0	0
CUL2	8453	broad.mit.edu	37	10	35317752	35317752	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr10:35317752T>A	ENST00000374748.1	-	17	1916	c.1603A>T	c.(1603-1605)Aaa>Taa	p.K535*	CUL2_ENST00000374746.1_Nonsense_Mutation_p.K535*|CUL2_ENST00000374742.1_Nonsense_Mutation_p.K535*|CUL2_ENST00000602371.1_Nonsense_Mutation_p.K478*|CUL2_ENST00000374749.3_Nonsense_Mutation_p.K535*|CUL2_ENST00000537177.1_Nonsense_Mutation_p.K554*|CUL2_ENST00000374751.3_Nonsense_Mutation_p.K535*			Q13617	CUL2_HUMAN	cullin 2	535					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TGTACACTTTTTTCTAATTCC	0.323000													3	39					0	0	0.115264	0	0
TOPBP1	11073	broad.mit.edu	37	3	133368327	133368327	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:133368327C>T	ENST00000260810.5	-	10	1535	c.1404G>A	c.(1402-1404)aaG>aaA	p.K468K	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	468					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AGCTGCTGTTCTTCTTTTTTA	0.388000								Other conserved DNA damage response genes					4	113					0	0	0.150653	0	0
ATF7	11016	broad.mit.edu	37	12	53994749	53994749	+	Silent	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr12:53994749C>A	ENST00000420353.2	-	2	185	c.36G>T	c.(34-36)ccG>ccT	p.P12P	ATF7_ENST00000548118.2_Silent_p.P12P|ATF7_ENST00000328463.7_Silent_p.P12P|ATF7_ENST00000548446.2_Silent_p.P12P|ATF7_ENST00000456903.4_Silent_p.P12P|RP11-793H13.10_ENST00000591834.1_Silent_p.P12P|ATF7_ENST00000415113.1_Silent_p.P12P|ATF7_ENST00000591397.1_Silent_p.P12P	NM_006856.2	NP_006847.1	P17544	ATF7_HUMAN	activating transcription factor 7	12	Transactivation domain.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						GTCCACAGCCCGGGGCATTGC	0.433000													5	38					0.00198382	0.00202963	0.248553	1	0
BNIPL	149428	broad.mit.edu	37	1	151015532	151015532	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:151015532G>A	ENST00000295294.7	+	5	897	c.288G>A	c.(286-288)tgG>tgA	p.W96*	BNIPL_ENST00000368931.3_Nonsense_Mutation_p.W178*	NM_001159642.1	NP_001153114.1	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	178					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GACATCACTGGAGGGTGTTCC	0.542000													7	113					0	0	0.335167	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74873787	74873787	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr11:74873787C>T	ENST00000289575.5	+	2	499	c.104C>T	c.(103-105)cCa>cTa	p.P35L	SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000525650.1_Intron|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.P13L|SLCO2B1_ENST00000341411.4_5'UTR|SLCO2B1_ENST00000532236.1_Intron|SLCO2B1_ENST00000526660.1_Intron	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	35					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	AAAGCCAGCCCAGACCCTCAG	0.592000													12	147					0	0	0.411799	0	0
PRMT8	56341	broad.mit.edu	37	12	3692332	3692332	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr12:3692332A>G	ENST00000382622.3	+	8	1327	c.937A>G	c.(937-939)Att>Gtt	p.I313V	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.I304V	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	313					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CTATTTTAATATTGAATTTAC	0.478000													4	20					0	0	0.184627	0	0
VDAC2	7417	broad.mit.edu	37	10	76982062	76982062	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr10:76982062C>T	ENST00000535553.1	+	9	876	c.520C>T	c.(520-522)Ctt>Ttt	p.L174F	VDAC2_ENST00000313132.4_Missense_Mutation_p.L228F|VDAC2_ENST00000332211.6_Missense_Mutation_p.L213F|VDAC2_ENST00000543351.1_Missense_Mutation_p.L213F			P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	213						mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	TTGTGAAGATCTTGACACTTC	0.358000													9	97					0	0	0.387290	0	0
DNMT3A	1788	broad.mit.edu	37	2	25472526	25472526	+	Splice_Site	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:25472526C>T	ENST00000380746.4	-	2	185	c.72G>A	c.(70-72)acG>acA	p.T24T	DNMT3A_ENST00000321117.5_Intron|DNMT3A_ENST00000402667.1_Intron|DNMT3A_ENST00000264709.3_Intron	NM_153759.3	NP_715640.2	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	64					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCCTTTCACCGTATCACACT	0.502000			"""Mis, F, N, S"""		AML								16	115					0	0	0.575678	0	0
OR2W3	343171	broad.mit.edu	37	1	248059764	248059764	+	Silent	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:248059764C>A	ENST00000537741.1	+	3	1133	c.876C>A	c.(874-876)ctC>ctA	p.L292L	OR2W3_ENST00000360358.3_Silent_p.L292L			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCTACACCCTCAGAAACAGAG	0.532000													4	56					0.150653	0.151707	0.150653	1	0
ITFG3	83986	broad.mit.edu	37	16	312519	312519	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr16:312519T>C	ENST00000399932.3	+	8	1389	c.938T>C	c.(937-939)cTc>cCc	p.L313P	ITFG3_ENST00000301679.2_Missense_Mutation_p.L313P|ITFG3_ENST00000450082.2_Missense_Mutation_p.L313P|ITFG3_ENST00000600536.1_Missense_Mutation_p.L313P|ITFG3_ENST00000301678.3_Missense_Mutation_p.L313P|ITFG3_ENST00000442458.2_Missense_Mutation_p.L313P	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	313						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				GAGAGCATGCTCAATGCCACC	0.647000													11	88					0	0	0.457914	0	0
OR56A4	120793	broad.mit.edu	37	11	6023979	6023979	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr11:6023979G>C	ENST00000330728.4	-	1	445	c.400C>G	c.(400-402)Ccc>Gcc	p.P134A		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGACCTTGGGGATGACGGTG	0.567000													11	94					0	0	0.435327	0	0
VRK3	51231	broad.mit.edu	37	19	50510925	50510925	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:50510925C>T	ENST00000599538.1	-	5	1112	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	VRK3_ENST00000377011.2_Missense_Mutation_p.E100K|VRK3_ENST00000443401.2_5'UTR|VRK3_ENST00000594092.1_Missense_Mutation_p.E150K|VRK3_ENST00000601912.1_Missense_Mutation_p.E100K|VRK3_ENST00000601341.1_Missense_Mutation_p.E100K|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000594948.1_Missense_Mutation_p.E150K|VRK3_ENST00000593919.1_Missense_Mutation_p.E150K|VRK3_ENST00000316763.3_Missense_Mutation_p.E150K			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	150						nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GGCAAAGCTTCAAGTGAGGTG	0.582000													7	152					0	0	0.278610	0	0
BIRC6	57448	broad.mit.edu	37	2	32668572	32668572	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:32668572G>T	ENST00000421745.2	+	20	4386	c.4252G>T	c.(4252-4254)Gac>Tac	p.D1418Y		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1418					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGGCAAATGTGACCCATGTCA	0.333000													3	19					0.004672	0.0047714	0.115264	1	0
TFCP2	7024	broad.mit.edu	37	12	51500367	51500367	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr12:51500367G>A	ENST00000307660.4	-	7	1425	c.705C>T	c.(703-705)gtC>gtT	p.V235V	TFCP2_ENST00000549867.1_Silent_p.V286V|TFCP2_ENST00000257915.5_Silent_p.V286V|TFCP2_ENST00000548115.1_Silent_p.V235V	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2	286	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						GGGAGTTATTGACATACGTGA	0.398000													5	55					0	0	0.248553	0	0
FASTKD5	60493	broad.mit.edu	37	20	3128235	3128235	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr20:3128235G>C	ENST00000380266.3	-	2	1803	c.1482C>G	c.(1480-1482)ctC>ctG	p.L494L	UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	494					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ACCCTGGACTGAGAGCGAAAT	0.473000													6	74					0	0	0.217242	0	0
KRT13	3860	broad.mit.edu	37	17	39659272	39659272	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:39659272G>A	ENST00000246635.3	-	4	860	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	KRT13_ENST00000336861.3_Missense_Mutation_p.R272C|KRT13_ENST00000587544.1_Missense_Mutation_p.R272C	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	272	Linker 12.|Rod.				epidermis development	intermediate filament	structural molecule activity	p.R272S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GCCAGCACGCGGGTCAGGTCA	0.602000													45	701					0	0	0.870114	0	0
SLC27A5	10998	broad.mit.edu	37	19	59022230	59022230	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:59022230G>A	ENST00000263093.2	-	2	865	c.756C>T	c.(754-756)ctC>ctT	p.L252L	SLC27A5_ENST00000601355.1_Silent_p.L168L	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	252					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		AGGTATGGCTGAGGTAGAAGC	0.632000													3	37					0	0	0.115264	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103574805	103574805	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr14:103574805G>T	ENST00000380069.3	+	10	2003	c.1927G>T	c.(1927-1929)Gac>Tac	p.D643Y		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	643										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CTACAAAGATGACATCCAGCG	0.602000													21	315					7.41877e-09	8.03236e-09	0.608945	1	0
IHH	3549	broad.mit.edu	37	2	219925066	219925066	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:219925066G>A	ENST00000295731.6	-	1	123	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog						cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACGAGTTTGCGTGGCGGTCGC	0.692000													3	47					0	0	0.115264	0	0
MYH4	4622	broad.mit.edu	37	17	10369590	10369590	+	Splice_Site	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:10369590G>A	ENST00000255381.2	-	4	458	c.348C>T	c.(346-348)taC>taT	p.Y116Y	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	116	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGGTGCTCACGTAGATCATCC	0.433000													10	93					0	0	0.457914	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70010650	70010650	+	RNA	SNP	A	A	G	rs144900726	by1000genomes	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr16:70010650A>G	ENST00000531894.1	-	0	3748					NR_003610.1																						AGGGCCGAAGAAGGGAATGTT	0.468000													3	104					0	0	0.150653	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744345	70744345	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr8:70744345G>A	ENST00000260126.4	-	2	1270	c.564C>T	c.(562-564)ttC>ttT	p.F188F	SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Silent_p.F188F|SLCO5A1_ENST00000530307.1_Silent_p.F188F	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1							integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCCGGCCGCCGAAGTAGCTGA	0.642000													4	76					0	0	0.217242	0	0
PLA2G3	50487	broad.mit.edu	37	22	31533774	31533774	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr22:31533774G>A	ENST00000215885.3	-	4	1240	c.988C>T	c.(988-990)Cag>Tag	p.Q330*		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	330					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						ATAGGGTCCTGGAGGGCTGTG	0.627000													12	176					0	0	0.479597	0	0
C14orf177	283598	broad.mit.edu	37	14	99183486	99183486	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr14:99183486G>T	ENST00000325812.2	+	4	672	c.253G>T	c.(253-255)Gaa>Taa	p.E85*		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	85										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				CCAGAGACATGAAGAAACTTC	0.453000													5	70					1.06961e-07	1.15158e-07	0.278610	1	0
XPO4	64328	broad.mit.edu	37	13	21442787	21442787	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr13:21442787G>C	ENST00000400602.2	-	2	158	c.123C>G	c.(121-123)ttC>ttG	p.F41L	XPO4_ENST00000490513.1_5'UTR|XPO4_ENST00000255305.6_Missense_Mutation_p.F41L	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	41					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TAAATGATAAGAATATGTGCT	0.338000													7	195					0	0	0.307466	0	0
TRAK1	22906	broad.mit.edu	37	3	42226284	42226284	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:42226284C>T	ENST00000327628.5	+	4	871	c.471C>T	c.(469-471)atC>atT	p.I157I	TRAK1_ENST00000449246.1_Silent_p.I83I|TRAK1_ENST00000396175.1_Silent_p.I99I|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Silent_p.I99I	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	157	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TGGAACACATCAGGGAGGAGG	0.582000													10	165					0	0	0.387290	0	0
APBB1IP	54518	broad.mit.edu	37	10	26800720	26800720	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr10:26800720G>A	ENST00000376236.4	+	7	1031	c.576G>A	c.(574-576)ctG>ctA	p.L192L		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	192	Ras-associating.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CAAAGTCACTGATGGTGGATG	0.473000													6	127					0	0	0.278610	0	0
AMBN	258	broad.mit.edu	37	4	71468378	71468378	+	Splice_Site	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr4:71468378C>T	ENST00000322937.6	+	7	672	c.569C>T	c.(568-570)tCa>tTa	p.S190L	AMBN_ENST00000449493.2_Splice_Site_p.S175L	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	190					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			CAAGGTCCATCAGTAAGTACA	0.259000													5	95					0	0	0.307466	0	0
AKAP8L	26993	broad.mit.edu	37	19	15508413	15508413	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:15508413C>T	ENST00000397410.5	-	11	1453	c.1323G>A	c.(1321-1323)aaG>aaA	p.K441K	AKAP8L_ENST00000595465.2_Silent_p.K380K|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like							cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCTCTGTCTTCTTGGTCTTGT	0.502000													5	38					0	0	0.248553	0	0
OR7C1	26664	broad.mit.edu	37	19	14910386	14910386	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:14910386G>A	ENST00000248073.2	-	1	637	c.563C>T	c.(562-564)gCc>gTc	p.A188V	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	188					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						GTCAGAACAGGCGAGCTTCAG	0.423000													8	113					0	0	0.387290	0	0
MYH9	4627	broad.mit.edu	37	22	36712697	36712697	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr22:36712697C>T	ENST00000216181.5	-	12	1475	c.1245G>A	c.(1243-1245)gaG>gaA	p.E415E		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	415	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGCCAAGGCCTCGATGGCAA	0.577000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				5	59					0	0	0.217242	0	0
OR4N4	283694	broad.mit.edu	37	15	22383258	22383258	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr15:22383258C>T	ENST00000328795.4	+	1	877	c.786C>T	c.(784-786)ttC>ttT	p.F262F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGTGCCCTTTCAGGGCCTTAC	0.433000													5	136					0	0	0.335167	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109765026	109765026	+	RNA	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chrX:109765026T>C	ENST00000602699.1	+	0	1487					NR_002718.2																						GATGATCATTTGTTAGTTGCC	0.363000													5	13					0	0	0.184627	0	0
CNTN3	5067	broad.mit.edu	37	3	74535680	74535680	+	Silent	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:74535680T>C	ENST00000263665.6	-	3	312	c.285A>G	c.(283-285)acA>acG	p.T95T		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	95	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GGTAAGTTCCTGTATCCCAAT	0.373000													5	88					0	0	0.248553	0	0
TNFAIP8	25816	broad.mit.edu	37	5	118728967	118728967	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr5:118728967C>T	ENST00000504771.2	+	2	2265	c.488C>T	c.(487-489)tCa>tTa	p.S163L	TNFAIP8_ENST00000504642.1_Missense_Mutation_p.S165L|TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000503646.1_Missense_Mutation_p.S163L|TNFAIP8_ENST00000513374.1_Missense_Mutation_p.S175L|TNFAIP8_ENST00000274456.6_Missense_Mutation_p.S153L	NM_014350.2	NP_055165.2	O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	163					anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		GATCATTTTTCAGATTGTGAA	0.388000													7	122					0	0	0.248553	0	0
FUK	197258	broad.mit.edu	37	16	70500855	70500855	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr16:70500855C>T	ENST00000288078.6	+	6	714	c.482C>T	c.(481-483)cCt>cTt	p.P161L	FUK_ENST00000571514.1_Intron|FUK_ENST00000378912.2_Missense_Mutation_p.P193L|FUK_ENST00000428974.2_Missense_Mutation_p.P144L	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	161						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CCTGCAAATCCTGGTGAGCCT	0.647000													9	77					0	0	0.361761	0	0
SLMAP	7871	broad.mit.edu	37	3	57908654	57908654	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:57908654G>A	ENST00000295951.3	+	21	3464	c.2247G>A	c.(2245-2247)ttG>ttA	p.L749L	SLMAP_ENST00000442599.2_Silent_p.L234L|SLMAP_ENST00000495364.1_Silent_p.L300L|SLMAP_ENST00000295952.3_Silent_p.L749L|SLMAP_ENST00000449503.2_Silent_p.L728L|SLMAP_ENST00000494088.1_Silent_p.L259L|SLMAP_ENST00000428312.1_Silent_p.L766L			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	766					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		AACTGAAGTTGAAGTTTGAAA	0.368000													4	77					0	0	0.150653	0	0
TRPM5	29850	broad.mit.edu	37	11	2427915	2427915	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr11:2427915T>C	ENST00000452833.1	-	21	3241	c.3233A>G	c.(3232-3234)gAg>gGg	p.E1078G	TRPM5_ENST00000533060.1_Missense_Mutation_p.E1076G|AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000528453.1_Missense_Mutation_p.E1076G|TRPM5_ENST00000155858.6_Missense_Mutation_p.E1076G			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	1076						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCGCAGCACCTCCCCCTCGCT	0.622000													4	222					0	0	0.184627	0	0
EYA1	2138	broad.mit.edu	37	8	72234077	72234077	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr8:72234077G>A	ENST00000340726.3	-	6	949	c.310C>T	c.(310-312)Caa>Taa	p.Q104*	EYA1_ENST00000419131.1_Nonsense_Mutation_p.Q104*|EYA1_ENST00000388743.2_Nonsense_Mutation_p.Q103*|EYA1_ENST00000303824.7_Nonsense_Mutation_p.Q103*|EYA1_ENST00000388740.3_Nonsense_Mutation_p.Q71*|EYA1_ENST00000388742.4_Nonsense_Mutation_p.Q104*|EYA1_ENST00000388741.2_Nonsense_Mutation_p.Q70*	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	104					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GCCATAGTTTGTGAGGAAGGG	0.468000													5	166					0	0	0.248553	0	0
MTDH	92140	broad.mit.edu	37	8	98718973	98718973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr8:98718973C>T	ENST00000336273.3	+	8	1595	c.1267C>T	c.(1267-1269)Caa>Taa	p.Q423*	MTDH_ENST00000519934.1_Nonsense_Mutation_p.Q367*	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	423	Lung-homing for mammary tumors (By similarity).				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			TCCTGATGATCAAAAGGTGAG	0.463000													8	209					0	0	0.307466	0	0
HPD	3242	broad.mit.edu	37	12	122287616	122287616	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr12:122287616G>A	ENST00000543163.1	-	9	823	c.378C>T	c.(376-378)ttC>ttT	p.F126F	HPD_ENST00000289004.4_Silent_p.F165F|HPD_ENST00000543869.2_5'UTR	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	165					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	GGGGGTCCATGAACGCTGGGG	0.547000													3	70					0	0	0.184627	0	0
SCN8A	6334	broad.mit.edu	37	12	52077988	52077988	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr12:52077988C>G	ENST00000354534.6	+	3	485	c.307C>G	c.(307-309)Ctc>Gtc	p.L103V	SCN8A_ENST00000550891.1_Missense_Mutation_p.L103V|SCN8A_ENST00000545061.1_Missense_Mutation_p.L103V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AGGGAAAACTCTCTTCAGATT	0.343000													3	64					0	0	0.184627	0	0
OR5K2	402135	broad.mit.edu	37	3	98217064	98217064	+	Silent	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:98217064T>C	ENST00000427338.1	+	1	617	c.540T>C	c.(538-540)gaT>gaC	p.D180D	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTTACTGTGATACTCTTCCCT	0.403000													13	272					0	0	0.500413	0	0
ADSL	158	broad.mit.edu	37	22	40755278	40755278	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr22:40755278C>G	ENST00000216194.7	+	6	725	c.669C>G	c.(667-669)gaC>gaG	p.D223E	ADSL_ENST00000480775.1_3'UTR|ADSL_ENST00000342312.6_Missense_Mutation_p.D223E|ADSL_ENST00000454266.2_Missense_Mutation_p.D237E	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	223					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						AGCAGCTTGACAAGATGGTGA	0.443000													13	186					0	0	0.520397	0	0
CHD1	1105	broad.mit.edu	37	5	98209411	98209411	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr5:98209411G>A	ENST00000284049.3	-	25	3606	c.3457C>T	c.(3457-3459)Cga>Tga	p.R1153*		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1153					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCAGCATCTCGAGCAATTGCA	0.338000													10	90					0	0	0.361761	0	0
LATS1	9113	broad.mit.edu	37	6	150005691	150005691	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr6:150005691C>T	ENST00000543571.1	-	4	1081	c.534G>A	c.(532-534)tgG>tgA	p.W178*	LATS1_ENST00000392273.3_Nonsense_Mutation_p.W178*|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Nonsense_Mutation_p.W178*	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	178					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TAGAACCTTTCCAGCTCTGTT	0.408000													3	74					0	0	0.217242	0	0
RANBP6	26953	broad.mit.edu	37	9	6012658	6012658	+	Missense_Mutation	SNP	T	T	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr9:6012658T>G	ENST00000259569.5	-	1	2960	c.2950A>C	c.(2950-2952)Ata>Cta	p.I984L		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	984					protein transport	cytoplasm|nucleus	binding	p.I984L(4)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATCTTCCCTATTGCTGAGATA	0.363000													3	82					0	0	0.184627	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552992	140552992	+	Silent	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr5:140552992C>G	ENST00000231137.3	+	1	750	c.576C>G	c.(574-576)ccC>ccG	p.P192P		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		192	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATATCTATCCCGAATTGGTGC	0.493000													6	84					0	0	0.248553	0	0
ATL2	64225	broad.mit.edu	37	2	38570616	38570616	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:38570616C>G	ENST00000378954.4	-	2	158	c.157G>C	c.(157-159)Gag>Cag	p.E53Q	ATL2_ENST00000402054.1_Intron|ATL2_ENST00000539122.1_Intron|ATL2_ENST00000452935.2_Missense_Mutation_p.E35Q|ATL2_ENST00000486927.1_5'UTR|ATL2_ENST00000406122.1_Intron|ATL2_ENST00000419554.2_Missense_Mutation_p.E53Q|ATL2_ENST00000546051.1_Intron|ATL2_ENST00000332337.4_Missense_Mutation_p.E35Q	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	53					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						TTCATAACCTCATCAGAATTT	0.338000													7	65					0	0	0.335167	0	0
HIST1H3H	8357	broad.mit.edu	37	6	27777942	27777942	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr6:27777942C>T	ENST00000369163.2	+	1	101	c.91C>T	c.(91-93)Ccg>Tcg	p.P31S		NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	31					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						GAAGAGCGCTCCGGCCACCGG	0.657000													5	67					0	0	0.217242	0	0
USP47	55031	broad.mit.edu	37	11	11977561	11977561	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr11:11977561G>C	ENST00000339865.5	+	27	4466	c.3703G>C	c.(3703-3705)Gaa>Caa	p.E1235Q	USP47_ENST00000399455.2_Missense_Mutation_p.E1323Q|USP47_ENST00000527733.1_Missense_Mutation_p.E1303Q|USP47_ENST00000539466.1_Missense_Mutation_p.E105Q|USP47_ENST00000305481.6_3'UTR	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1323					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TAAAACAGAAGAATTAATGGA	0.373000													3	75					0	0	0.115264	0	0
PPEF1	5475	broad.mit.edu	37	X	18822166	18822166	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chrX:18822166G>A	ENST00000361511.4	+	14	1716	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	PPEF1_ENST00000543630.1_Intron|PPEF1_ENST00000349874.5_Intron|PPEF1_ENST00000544635.1_Missense_Mutation_p.E343K|PPEF1_ENST00000359763.6_Missense_Mutation_p.E355K	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	408	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					ATGTAAGCCCGAAGGGTATGA	0.433000													8	99					0	0	0.387290	0	0
ZNF845	91664	broad.mit.edu	37	19	53855364	53855364	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:53855364C>T	ENST00000458035.1	+	4	1553	c.1436C>T	c.(1435-1437)aCa>aTa	p.T479I	ZNF845_ENST00000595091.1_Missense_Mutation_p.T479I	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TTCAGTCAGACATCATCCCTT	0.378000													4	133					0	0	0.217242	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171765985	171765985	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr5:171765985G>A	ENST00000311601.5	-	13	2294	c.2124C>T	c.(2122-2124)cgC>cgT	p.R708R	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	708					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGTCCTGGGCGCGGCCAGGCC	0.627000													6	40					0	0	0.248553	0	0
GBP5	115362	broad.mit.edu	37	1	89730587	89730587	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:89730587C>G	ENST00000343435.5	-	8	1467	c.931G>C	c.(931-933)Gag>Cag	p.E311Q	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.E311Q	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	311						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		ACTGCATTCTCTATGCAAGGC	0.483000													10	78					0	0	0.435327	0	0
CLDND1	56650	broad.mit.edu	37	3	98235645	98235645	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:98235645T>C	ENST00000503004.1	-	5	1499	c.620A>G	c.(619-621)aAt>aGt	p.N207S	CLDND1_ENST00000507874.1_Intron|CLDND1_ENST00000394180.2_Missense_Mutation_p.N207S|CLDND1_ENST00000513287.1_Missense_Mutation_p.N207S|CLDND1_ENST00000394185.2_Missense_Mutation_p.N207S|CLDND1_ENST00000341181.6_Missense_Mutation_p.N207S|CLDND1_ENST00000394181.2_Missense_Mutation_p.N207S|CLDND1_ENST00000511081.1_Missense_Mutation_p.N112S|CLDND1_ENST00000437922.1_Missense_Mutation_p.N230S|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000510545.1_Missense_Mutation_p.N207S			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	207						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						ACCGGATACATTGTCAGGGAG	0.478000													14	69					0	0	0.520397	0	0
TAF1L	138474	broad.mit.edu	37	9	32633737	32633737	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr9:32633737G>A	ENST00000242310.4	-	1	1930	c.1841C>T	c.(1840-1842)gCt>gTt	p.A614V	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	614					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.A614D(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TAATTCCATAGCAGGAATTGA	0.478000													5	167					0	0	0.217242	0	0
CRLF1	9244	broad.mit.edu	37	19	18709341	18709341	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:18709341C>T	ENST00000392386.3	-	4	791	c.598G>A	c.(598-600)Gac>Aac	p.D200N		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	200	Fibronectin type-III 1.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						AGAGCCAGGTCCTTGGGGATG	0.622000													13	148					0	0	0.557998	0	0
ZFP69B	65243	broad.mit.edu	37	1	40928137	40928137	+	Nonstop_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:40928137G>C	ENST00000484445.1	+	5	761	c.395G>C	c.(394-396)tGa>tCa	p.*132S	ZFP69B_ENST00000361584.3_Missense_Mutation_p.D59H|ZFP69B_ENST00000411995.2_Missense_Mutation_p.D161H					ZFP69 zinc finger protein B																		CTTACAGAATGATATTTCGTG	0.323000													15	162					0	0	0.479597	0	0
MFN1	55669	broad.mit.edu	37	3	179080190	179080190	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:179080190G>A	ENST00000471841.1	+	5	582	c.456G>A	c.(454-456)ttG>ttA	p.L152L	MFN1_ENST00000263969.5_Silent_p.L152L|MFN1_ENST00000280653.7_Silent_p.L152L	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	152					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			ACAAAGATTTGAAAGCTGGCT	0.383000													7	94					0	0	0.335167	0	0
COMMD9	29099	broad.mit.edu	37	11	36297736	36297736	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr11:36297736G>A	ENST00000263401.5	-	5	423	c.407C>T	c.(406-408)tCa>tTa	p.S136L	COMMD9_ENST00000452374.2_Missense_Mutation_p.S94L|COMMD9_ENST00000532705.1_Silent_p.L124L	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	136	COMM.									kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				GATGCTGTCTGAGGAGGTTTT	0.552000													5	92					0	0	0.217242	0	0
MEOX2	4223	broad.mit.edu	37	7	15652020	15652020	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr7:15652020G>A	ENST00000262041.5	-	3	1316	c.907C>T	c.(907-909)Cac>Tac	p.H303Y		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	303					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TATCATAAGTGCGCATGCTCT	0.478000													8	64					0	0	0.307466	0	0
NPY5R	4889	broad.mit.edu	37	4	164271709	164271709	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr4:164271709C>T	ENST00000515560.1	+	4	1806	c.284C>T	c.(283-285)tCa>tTa	p.S95L	NPY5R_ENST00000338566.3_Missense_Mutation_p.S95L|NPY5R_ENST00000506953.1_Missense_Mutation_p.S95L			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	95					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				CTGTTTTGCTCACCTTTCACA	0.408000													18	286					0	0	0.557998	0	0
CRYBB3	1417	broad.mit.edu	37	22	25599847	25599847	+	Silent	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr22:25599847C>G	ENST00000215855.2	+	4	392	c.312C>G	c.(310-312)ctC>ctG	p.L104L	CRYBB3_ENST00000404334.1_Silent_p.L104L	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	104	Beta/gamma crystallin 'Greek key' 2.				visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						TTCTGTCCCTCCGGCCTCTGA	0.582000													27	260					0	0	0.769981	0	0
TENM3	55714	broad.mit.edu	37	4	183673159	183673159	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr4:183673159T>C	ENST00000511685.1	+	20	3959	c.3836T>C	c.(3835-3837)gTg>gCg	p.V1279A	TENM3_ENST00000406950.2_Missense_Mutation_p.V1279A|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		GGGAAGGCCGTGGAAGCCACA	0.463000													5	23					0	0	0.217242	0	0
INTS12	57117	broad.mit.edu	37	4	106614625	106614625	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr4:106614625C>T	ENST00000451321.2	-	4	807	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	INTS12_ENST00000340139.5_Missense_Mutation_p.E110K|INTS12_ENST00000394735.1_Missense_Mutation_p.E110K	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	110					snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		TCAACTCCTTCAGTGATGTCT	0.378000													9	158					0	0	0.361761	0	0
CCDC141	285025	broad.mit.edu	37	2	179720159	179720159	+	Missense_Mutation	SNP	T	T	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:179720159T>A	ENST00000420890.2	-	19	3092	c.2975A>T	c.(2974-2976)aAa>aTa	p.K992I	CCDC141_ENST00000295723.5_Missense_Mutation_p.K417I	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	417							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATCCACATGTTTTTGCAAATC	0.343000													4	73					0	0	0.184627	0	0
LCP1	3936	broad.mit.edu	37	13	46708313	46708313	+	Silent	SNP	C	C	T	rs111548644		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr13:46708313C>T	ENST00000398576.2	-	17	1963	c.1575G>A	c.(1573-1575)gtG>gtA	p.V525V	LCP1_ENST00000323076.2_Silent_p.V525V|LCP1_ENST00000435666.2_Silent_p.V94V			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	525	Actin-binding 2.|CH 4.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		ATGTTTCATTCACCCAGTTGA	0.393000			T	BCL6	NHL								11	93					0	0	0.411799	0	0
GNAL	2774	broad.mit.edu	37	18	11689814	11689814	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr18:11689814G>A	ENST00000334049.6	+	1	860	c.252G>A	c.(250-252)gaG>gaA	p.E84E		NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	85					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						TGAGTGCCGAGGAGCGCGAGG	0.711000													3	8					0	0	0.150653	0	0
CC2D2A	57545	broad.mit.edu	37	4	15504503	15504503	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr4:15504503G>A	ENST00000424120.1	+	6	649	c.395G>A	c.(394-396)cGa>cAa	p.R132Q	CC2D2A_ENST00000503292.1_Missense_Mutation_p.R132Q|CC2D2A_ENST00000389652.5_Missense_Mutation_p.R83Q|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000413206.1_Missense_Mutation_p.R132Q			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	132					cell projection organization	cilium|microtubule basal body		p.R83Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						AGACGCTTACGAAGTCCCAGT	0.418000													5	27					0	0	0.217242	0	0
KIAA0232	9778	broad.mit.edu	37	4	6843853	6843853	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr4:6843853G>A	ENST00000307659.5	+	4	746	c.291G>A	c.(289-291)aaG>aaA	p.K97K	KIAA0232_ENST00000425103.1_Silent_p.K97K	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	97							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GAAAGAGTAAGAAAAAATGTT	0.388000													10	104					0	0	0.387290	0	0
LPAR4	2846	broad.mit.edu	37	X	78010591	78010591	+	Silent	SNP	T	T	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chrX:78010591T>A	ENST00000435339.3	+	2	611	c.225T>A	c.(223-225)gcT>gcA	p.A75A		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4							integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						GTGAGACTGCTATTTTTATCA	0.393000													10	209					0	0	0.361761	0	0
PAPOLA	10914	broad.mit.edu	37	14	97003351	97003351	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr14:97003351G>A	ENST00000216277.8	+	12	1289	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	PAPOLA_ENST00000392990.2_Missense_Mutation_p.E357K	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	357					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		GAGTAAGGCAGAGTGGTCCAA	0.313000													5	51					0	0	0.248553	0	0
ABL1	25	broad.mit.edu	37	9	133759972	133759972	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr9:133759972G>A	ENST00000318560.5	+	11	2676	c.2295G>A	c.(2293-2295)aaG>aaA	p.K765K		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	765					actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TGCCTCGGAAGAGGGCAGGGG	0.582000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								5	60					0	0	0.278610	0	0
FLG	2312	broad.mit.edu	37	1	152287154	152287154	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:152287154C>G	ENST00000368799.1	-	3	243	c.208G>C	c.(208-210)Gac>Cac	p.D70H	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	70	EF-hand 2.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCAGTGAAGTCAATTTTCTTG	0.408000									Ichthyosis				5	72					0	0	0.217242	0	0
ZBTB39	9880	broad.mit.edu	37	12	57398642	57398642	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr12:57398642G>C	ENST00000300101.2	-	2	145	c.60C>G	c.(58-60)ctC>ctG	p.L20L		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GGCACTTGTTGAGTTCCTTCA	0.557000													9	206					0	0	0.361761	0	0
CLEC16A	23274	broad.mit.edu	37	16	11137897	11137897	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr16:11137897G>A	ENST00000409790.1	+	16	2013	c.1783G>A	c.(1783-1785)Gaa>Aaa	p.E595K	CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Missense_Mutation_p.E577K	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	595								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGCGAGAGAAGAAAGTGTTCA	0.443000													10	73					0	0	0.411799	0	0
DACH1	1602	broad.mit.edu	37	13	72053440	72053440	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr13:72053440C>T	ENST00000305425.4	-	8	2159	c.1737G>A	c.(1735-1737)ttG>ttA	p.L579L	DACH1_ENST00000313174.7_Silent_p.L431L|DACH1_ENST00000359684.2_Silent_p.L631L|DACH1_ENST00000354591.4_Silent_p.L377L	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	629					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TGGCAACTTTCAACAGCCCCT	0.358000													8	132					0	0	0.335167	0	0
MYLK4	340156	broad.mit.edu	37	6	2683270	2683270	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr6:2683270G>C	ENST00000274643.7	-	7	1014	c.672C>G	c.(670-672)ctC>ctG	p.L224L	MYLK4_ENST00000268446.5_Silent_p.L224L	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	224	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				GGTCCAAGTGGAGAATGTACA	0.488000													21	124					0	0	0.667858	0	0
STAG3	10734	broad.mit.edu	37	7	99796487	99796487	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr7:99796487G>A	ENST00000426455.1	+	14	1781	c.1374G>A	c.(1372-1374)gaG>gaA	p.E458E	STAG3_ENST00000317296.5_Silent_p.E458E|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Silent_p.E400E	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	458					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGAGTGCGAGATAAGAATGA	0.547000													9	125					0	0	0.387290	0	0
VILL	50853	broad.mit.edu	37	3	38048129	38048129	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:38048129G>A	ENST00000283713.6	+	19	2661	c.2395G>A	c.(2395-2397)Gaa>Aaa	p.E799K	VILL_ENST00000383759.2_Missense_Mutation_p.E799K|VILL_ENST00000465644.1_Missense_Mutation_p.E517K			O15195	VILL_HUMAN	villin-like	799	HP.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCTGCGCCGGGAACAACTGAT	0.657000													21	74					0	0	0.639603	0	0
DOCK2	1794	broad.mit.edu	37	5	169494582	169494582	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr5:169494582G>T	ENST00000256935.8	+	45	4616	c.4536G>T	c.(4534-4536)atG>atT	p.M1512I	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.M1004I|DOCK2_ENST00000540750.1_Missense_Mutation_p.M573I	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1512	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTGATGATGATAAACCAGT	0.498000													7	103					5.18039e-06	5.49522e-06	0.278610	1	0
TBC1D24	57465	broad.mit.edu	37	16	2546157	2546157	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr16:2546157C>G	ENST00000567020.1	+	2	148	c.8C>G	c.(7-9)tCt>tGt	p.S3C	TBC1D24_ENST00000434757.2_Missense_Mutation_p.S3C|TBC1D24_ENST00000293970.5_Missense_Mutation_p.S3C|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.S3C	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	3					neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						GCTATGGACTCTCCAGGATAC	0.597000													16	109					0	0	0.681144	0	0
FRMD3	257019	broad.mit.edu	37	9	86004545	86004545	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr9:86004545G>A	ENST00000304195.3	-	2	432	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C	FRMD3_ENST00000376438.1_Missense_Mutation_p.R76C	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	76	FERM.					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						TCCACATAGCGAATGCCAAAG	0.498000													5	95					0	0	0.278610	0	0
UNKL	64718	broad.mit.edu	37	16	1417786	1417786	+	Silent	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr16:1417786C>G	ENST00000389221.4	-	13	1649	c.1650G>C	c.(1648-1650)ctG>ctC	p.L550L	UNKL_ENST00000248104.7_Silent_p.L49L|UNKL_ENST00000402641.2_Silent_p.L52L|UNKL_ENST00000397464.1_Silent_p.L52L|UNKL_ENST00000508903.2_Silent_p.L553L|UNKL_ENST00000391893.2_Silent_p.L49L|UNKL_ENST00000403703.1_Silent_p.L52L	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	550	Ser-rich.					cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				GGCCGGCACTCAGGATGGGGG	0.642000													3	9					0	0	0.115264	0	0
NCOA3	8202	broad.mit.edu	37	20	46255881	46255881	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr20:46255881G>A	ENST00000372004.3	+	6	709	c.493G>A	c.(493-495)Gac>Aac	p.D165N	NCOA3_ENST00000371998.3_Missense_Mutation_p.D165N|NCOA3_ENST00000371997.3_Missense_Mutation_p.D165N|NCOA3_ENST00000497292.1_3'UTR|NCOA3_ENST00000341724.6_Missense_Mutation_p.D165N	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	165	PAS.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.D165Y(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ACATGAAGAAGACAGAAAGGA	0.308000													4	63					0	0	0.150653	0	0
SLC37A3	84255	broad.mit.edu	37	7	140051177	140051177	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr7:140051177C>T	ENST00000326232.9	-	9	981	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	SLC37A3_ENST00000340308.3_Missense_Mutation_p.E260K|SLC37A3_ENST00000429996.2_3'UTR|SLC37A3_ENST00000447932.2_Missense_Mutation_p.E260K	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	260					carbohydrate transport|transmembrane transport	integral to membrane		p.E260K(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					TATTCGTCTTCATTTTCACCA	0.428000													10	127					0	0	0.457914	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6080762	6080762	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr7:6080762C>T	ENST00000199389.6	-	9	1026	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.E170K|EIF2AK1_ENST00000495565.1_5'UTR	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	294	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		GTGTCAGATTCTCCAAAGCGT	0.408000													15	125					0	0	0.479597	0	0
PRRC2B	84726	broad.mit.edu	37	9	134351676	134351676	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr9:134351676G>A	ENST00000357304.4	+	15	4215	c.4160G>A	c.(4159-4161)cGg>cAg	p.R1387Q	PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1387							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AGCGAGCGGCGGGAGCGGCGG	0.667000											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	2					0	0	0.115264	0	0
DNAH6	1768	broad.mit.edu	37	2	84806721	84806721	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:84806721C>A	ENST00000389394.3	+	14	2284	c.2147C>A	c.(2146-2148)gCa>gAa	p.A716E	DNAH6_ENST00000237449.6_Missense_Mutation_p.A716E|DNAH6_ENST00000398278.2_Missense_Mutation_p.A716E	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	716	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GCACAAGATGCAGAGTATAAA	0.353000													23	66					9.57634e-11	1.05066e-10	0.654019	1	0
DNAH3	55567	broad.mit.edu	37	16	20976354	20976354	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr16:20976354T>C	ENST00000261383.3	-	53	8851	c.8852A>G	c.(8851-8853)aAg>aGg	p.K2951R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2951	Stalk (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)		CTCCAAGTCCTTTTTCTTGGT	0.498000													3	180					0	0	0.150653	0	0
HIST1H2AD	3013	broad.mit.edu	37	6	26199108	26199108	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr6:26199108C>G	ENST00000341023.1	-	1	363	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	HIST1H3D_ENST00000377831.5_5'UTR	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	122					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				TGGTGACTCTCAGTCTTCTTG	0.488000													14	83					0	0	0.479597	0	0
DMRTB1	63948	broad.mit.edu	37	1	53927289	53927289	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:53927289T>C	ENST00000371445.3	+	2	776	c.721T>C	c.(721-723)Tcc>Ccc	p.S241P	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	241	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CCGGCATGTGTCCCGCAGCCA	0.662000													4	73					0	0	0.184627	0	0
GABRA2	2555	broad.mit.edu	37	4	46334652	46334652	+	Missense_Mutation	SNP	G	G	T	rs76519302		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr4:46334652G>T	ENST00000510861.1	-	4	408	c.235C>A	c.(235-237)Cct>Act	p.P79T	GABRA2_ENST00000515082.1_Missense_Mutation_p.P79T|GABRA2_ENST00000356504.1_Missense_Mutation_p.P79T|GABRA2_ENST00000514090.1_Missense_Mutation_p.P79T|GABRA2_ENST00000540012.1_Intron|GABRA2_ENST00000507069.1_Missense_Mutation_p.P79T|GABRA2_ENST00000381620.4_Missense_Mutation_p.P79T			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	79					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCTGAGACAGGGCCAAAACTG	0.328000													7	123					1.33987e-11	1.47283e-11	0.361761	1	0
SLC6A4	6532	broad.mit.edu	37	17	28530250	28530250	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:28530250G>A	ENST00000401766.2	-	13	2270	c.1758C>T	c.(1756-1758)ttC>ttT	p.F586F	SLC6A4_ENST00000261707.3_Silent_p.F586F			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	586					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GGATGCAAATGAAAGATGAGG	0.403000													5	170					0	0	0.248553	0	0
DDX58	23586	broad.mit.edu	37	9	32500809	32500809	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr9:32500809G>A	ENST00000379883.2	-	2	392	c.235C>T	c.(235-237)Cat>Tat	p.H79Y	DDX58_ENST00000542096.1_5'UTR|DDX58_ENST00000379882.1_Intron|DDX58_ENST00000545044.1_5'UTR|DDX58_ENST00000379868.1_5'UTR	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	79	CARD 1.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TAACCTGCATGGTCTAGGGCA	0.418000													6	114					0	0	0.248553	0	0
OASL	8638	broad.mit.edu	37	12	121458759	121458759	+	Missense_Mutation	SNP	G	G	A	rs139160700	by1000genomes	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr12:121458759G>A	ENST00000257570.5	-	6	1420	c.1150C>T	c.(1150-1152)Cgg>Tgg	p.R384W	OASL_ENST00000339275.5_3'UTR	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	384	Ubiquitin-like 1.				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTGGTCCTCCGGATTTTCTCT	0.542000													3	74					0	0	0.115264	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	74					0	0	0.115264	0	0
JUP	3728	broad.mit.edu	37	17	39777261	39777261	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:39777261G>C	ENST00000540235.1	-	8	1393	c.1394C>G	c.(1393-1395)aCc>aGc	p.T465S	KRT17_ENST00000311208.8_Missense_Mutation_p.T306S			P14923	PLAK_HUMAN	junction plakoglobin	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GGCCTGCATGGTGCGCCGGAG	0.602000													11	99					0	0	0.457914	0	0
KTN1	3895	broad.mit.edu	37	14	56122763	56122763	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr14:56122763G>A	ENST00000416613.1	+	28	2877	c.2805G>A	c.(2803-2805)ttG>ttA	p.L935L	KTN1_ENST00000395314.3_Silent_p.L935L|KTN1_ENST00000395309.3_Silent_p.L935L|KTN1_ENST00000554507.1_Silent_p.L230L|KTN1_ENST00000395311.1_Silent_p.L912L|KTN1_ENST00000413890.2_Silent_p.L912L|KTN1_ENST00000438792.2_Silent_p.L935L|KTN1_ENST00000395308.1_Silent_p.L912L			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	935					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						ATTCTAGGTTGAAAGAAAAGG	0.348000			T	RET	papillary thryoid								4	21					0	0	0.184627	0	0
PTH1R	5745	broad.mit.edu	37	3	46942574	46942574	+	Splice_Site	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:46942574G>A	ENST00000313049.5	+	9	1251	c.1048G>A	c.(1048-1050)Ggg>Agg	p.G350R	PTH1R_ENST00000449590.1_Splice_Site_p.G350R|PTH1R_ENST00000430002.2_Splice_Site_p.G350R|PTH1R_ENST00000418619.1_Splice_Site_p.G350R			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	350						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						GGCCAACACCGGGTAGGTCCA	0.627000													3	15					0	0	0.115264	0	0
TRIM55	84675	broad.mit.edu	37	8	67040613	67040613	+	Silent	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr8:67040613T>C	ENST00000315962.4	+	2	616	c.243T>C	c.(241-243)tgT>tgC	p.C81C	TRIM55_ENST00000276573.7_Silent_p.C81C|TRIM55_ENST00000353317.5_Silent_p.C81C|TRIM55_ENST00000350034.4_Silent_p.C81C	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	81						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GCCCATCCTGTAGACATGAAG	0.498000													61	197					0	0	0.870114	0	0
CC2D1A	54862	broad.mit.edu	37	19	14028882	14028882	+	Splice_Site	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:14028882G>A	ENST00000318003.7	+	7	989		c.e7-1		CC2D1A_ENST00000589606.1_Splice_Site	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A						positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CTCCCTTCCAGGTCCCTGCAG	0.527000													7	42					0	0	0.335167	0	0
CNTLN	54875	broad.mit.edu	37	9	17457539	17457539	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr9:17457539G>A	ENST00000380647.3	+	19	3216	c.3132G>A	c.(3130-3132)ttG>ttA	p.L1044L	CNTLN_ENST00000425824.1_Silent_p.L1044L|CNTLN_ENST00000262360.5_Silent_p.L1044L			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1044						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		ATTTGGATTTGGCTGGGCTTC	0.269000													4	62					0	0	0.184627	0	0
AGBL1	123624	broad.mit.edu	37	15	86814885	86814885	+	Missense_Mutation	SNP	C	C	G	rs147544569	by1000genomes	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr15:86814885C>G	ENST00000441037.2	+	14	1980	c.1885C>G	c.(1885-1887)Ctt>Gtt	p.L629V	AGBL1_ENST00000421325.2_Missense_Mutation_p.L629V|AGBL1_ENST00000389298.3_Missense_Mutation_p.L360V	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	629					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GAAGGAGGCTCTTCTTGGCAA	0.423000													10	125					0	0	0.479597	0	0
MUC5AC	4586	broad.mit.edu	37	11	1154305	1154305	+	Splice_Site	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr11:1154305G>A	ENST00000356191.2	+	2	151	c.151G>A	c.(151-153)Ggg>Agg	p.G51R						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GGGGCCCAGCGGTGAGTCTGA	0.667000													6	26					0	0	0.278610	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987500	154987500	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:154987500C>T	ENST00000368426.3	+	3	501	c.364C>T	c.(364-366)Ctc>Ttc	p.L122F	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.L122F|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.L122F|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.L156F	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	122					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCAGCTGTGCTCCAGGCTGC	0.607000													6	67					0	0	0.335167	0	0
ITIH3	3699	broad.mit.edu	37	3	52836749	52836749	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:52836749C>T	ENST00000449956.2	+	13	1642	c.1636C>T	c.(1636-1638)Cgg>Tgg	p.R546W	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	546					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CCTGCAGGAGCGGGACTACAT	0.602000													8	97					0	0	0.335167	0	0
SV2B	9899	broad.mit.edu	37	15	91769716	91769716	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr15:91769716C>T	ENST00000394232.1	+	2	693	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W	SV2B_ENST00000557291.1_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.R75W|SV2B_ENST00000545111.2_Intron	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	75					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GGACAGCCTTCGGGGCCAGAC	0.587000													4	32					0	0	0.217242	0	0
RNF207	388591	broad.mit.edu	37	1	6270478	6270478	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:6270478G>C	ENST00000377939.4	+	10	1049	c.922G>C	c.(922-924)Gag>Cag	p.E308Q	RNF207_ENST00000377948.2_Missense_Mutation_p.E81Q	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	308						intracellular	zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CAACAAGGCTGAGTTCCTGGA	0.647000													6	109					0	0	0.278610	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr16:90162513T>C	ENST00000567960.1	+	0	1249				TUBB8P7_ENST00000564451.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													11	144					0	0	0.457914	0	0
NBN	4683	broad.mit.edu	37	8	90993657	90993657	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr8:90993657C>T	ENST00000265433.3	-	3	420	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	NBN_ENST00000409330.1_Missense_Mutation_p.R7Q	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	89					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CTTCAAAGTTCGGGAAAAGCC	0.333000								Homologous recombination					8	173					0	0	0.307466	0	0
NUAK1	9891	broad.mit.edu	37	12	106500216	106500216	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr12:106500216G>C	ENST00000261402.2	-	2	1707	c.328C>G	c.(328-330)Ctc>Gtc	p.L110V		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	110	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GGATGGTTGAGAGATGACATG	0.373000													3	33					0	0	0.150653	0	0
OR7D2	162998	broad.mit.edu	37	19	9297319	9297319	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:9297319T>C	ENST00000344248.2	+	1	1041	c.862T>C	c.(862-864)Ttc>Ctc	p.F288L		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	288					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						GTTGAACCCCTTCATCTACAG	0.562000													3	126					0	0	0.184627	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113660171	113660171	+	RNA	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr11:113660171C>T	ENST00000393544.2	+	0	219																											CCCAGCCTCGCAGGCTAAGCT	0.602000													6	47					0	0	0.307466	0	0
IGLV2-11	28816	broad.mit.edu	37	22	23135470	23135470	+	RNA	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr22:23135470C>G	ENST00000390314.2	+	0	374																											TACTGCTGCTCATATGCAGGC	0.567000													18	165					0	0	0.575678	0	0
TAS2R30	259293	broad.mit.edu	37	12	11286349	11286349	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr12:11286349C>A	ENST00000539585.1	-	1	894	c.495G>T	c.(493-495)aaG>aaT	p.K165N	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1			taste receptor, type 2, member 30											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						TCAATTTGATCTTCCAAGTCA	0.383000													10	144					0.010729	0.0109186	0.387290	1	0
GZMA	3001	broad.mit.edu	37	5	54404206	54404206	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr5:54404206G>A	ENST00000274306.6	+	4	646	c.611G>A	c.(610-612)gGa>gAa	p.G204E		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	204	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CTCCGAGGTGGAAGAGACTCG	0.378000													7	87					0	0	0.335167	0	0
LPAR4	2846	broad.mit.edu	37	X	78010794	78010794	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chrX:78010794C>G	ENST00000435339.3	+	2	814	c.428C>G	c.(427-429)cCt>cGt	p.P143R		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4							integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	p.P143H(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						ATTGTCTATCCTTTTCGATCT	0.463000													5	122					0	0	0.217242	0	0
NCOA3	8202	broad.mit.edu	37	20	46255875	46255875	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr20:46255875G>A	ENST00000372004.3	+	6	703	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	NCOA3_ENST00000371998.3_Missense_Mutation_p.E163K|NCOA3_ENST00000371997.3_Missense_Mutation_p.E163K|NCOA3_ENST00000497292.1_3'UTR|NCOA3_ENST00000341724.6_Missense_Mutation_p.E163K	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	163	PAS.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TATCTTACATGAAGAAGACAG	0.313000													4	67					0	0	0.217242	0	0
MED13	9969	broad.mit.edu	37	17	60032756	60032756	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:60032756G>C	ENST00000397786.2	-	26	6031	c.5955C>G	c.(5953-5955)ttC>ttG	p.F1985L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1985					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGTTGGGATTGAAAGCTAAAT	0.373000													9	53					0	0	0.361761	0	0
MRPS31	10240	broad.mit.edu	37	13	41331082	41331082	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr13:41331082C>T	ENST00000323563.6	-	4	703	c.667G>A	c.(667-669)Gag>Aag	p.E223K		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	223						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		ATCCGAAGCTCTGGTCTTGAA	0.378000													3	67					0	0	0.150653	0	0
SORL1	6653	broad.mit.edu	37	11	121414362	121414362	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr11:121414362C>T	ENST00000260197.7	+	13	1920	c.1791C>T	c.(1789-1791)ttC>ttT	p.F597F	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	597					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCACTGTCTTCACCATCTTTG	0.512000													7	185					0	0	0.335167	0	0
ATAD5	79915	broad.mit.edu	37	17	29220310	29220310	+	Splice_Site	SNP	A	A	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:29220310A>T	ENST00000321990.4	+	21	4818		c.e21-1			NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5						response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ATTGTTTTTCAGCACAAAATC	0.294000													61	253					0	0	0.870114	0	0
YME1L1	10730	broad.mit.edu	37	10	27423784	27423784	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr10:27423784G>A	ENST00000326799.3	-	7	986	c.838C>T	c.(838-840)Caa>Taa	p.Q280*	YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000376016.3_Nonsense_Mutation_p.Q223*|YME1L1_ENST00000375972.3_Nonsense_Mutation_p.Q190*	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	280					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						GTGAGTGCTTGAGCTTTCAGA	0.368000													6	92					0	0	0.278610	0	0
RTN1	6252	broad.mit.edu	37	14	60213112	60213112	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr14:60213112G>C	ENST00000267484.5	-	2	664	c.329C>G	c.(328-330)tCt>tGt	p.S110C		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	110					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GCAGATGTCAGAAATGAGAGA	0.458000													6	57					0	0	0.248553	0	0
ABHD12	26090	broad.mit.edu	37	20	25275652	25275652	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr20:25275652G>A	ENST00000376542.3	-	13	1451	c.1172C>T	c.(1171-1173)cCa>cTa	p.P391L	PYGB_ENST00000216962.4_Intron|PYGB_ENST00000471359.1_Intron	NM_015600.4	NP_056415.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	0						integral to membrane	acylglycerol lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						GCTGGAACCTGGGCCCTGCTG	0.473000											OREG0025844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	211					0	0	0.361761	0	0
PSMC6	5706	broad.mit.edu	37	14	53187697	53187697	+	Missense_Mutation	SNP	T	T	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr14:53187697T>G	ENST00000445930.2	+	11	944	c.938T>G	c.(937-939)aTa>aGa	p.I313R	PSMC6_ENST00000606149.1_Missense_Mutation_p.I299R			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	299					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					GATAGAAAAATACGTGAGTTA	0.368000													10	192					0	0	0.435327	0	0
BOD1L1	259282	broad.mit.edu	37	4	13605601	13605601	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr4:13605601C>G	ENST00000040738.5	-	10	3058	c.2923G>C	c.(2923-2925)Gag>Cag	p.E975Q		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	975	Lys-rich.						DNA binding										GAAGCAGTCTCTAATACAGGT	0.378000													12	177					0	0	0.520397	0	0
FMN2	56776	broad.mit.edu	37	1	240370862	240370862	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:240370862G>A	ENST00000319653.9	+	5	2980	c.2750G>A	c.(2749-2751)gGa>gAa	p.G917E		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	917	FH1.|Pro-rich.				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	p.G1060E(1)		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)			CCTCTTCCCGGAGCGGGCATA	0.657000													14	291					0	0	0.575678	0	0
TIPARP	25976	broad.mit.edu	37	3	156395594	156395594	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:156395594G>A	ENST00000461166.1	+	2	696	c.108G>A	c.(106-108)ttG>ttA	p.L36L	TIPARP_ENST00000295924.7_Silent_p.L36L|TIPARP_ENST00000486483.1_Silent_p.L36L|TIPARP_ENST00000542783.1_Silent_p.L36L	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	36							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	p.L36F(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TCACTCCATTGAAGACTTGTT	0.448000													8	76					0	0	0.335167	0	0
ARSB	411	broad.mit.edu	37	5	78260315	78260315	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr5:78260315C>T	ENST00000264914.4	-	3	1150	c.614G>A	c.(613-615)gGa>gAa	p.G205E	ARSB_ENST00000396151.3_Missense_Mutation_p.G205E|ARSB_ENST00000565165.1_Missense_Mutation_p.G205E	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	205					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		ATTTTTATATCCTGTTGCAAC	0.373000													9	60					0	0	0.307466	0	0
KMT2D	8085	broad.mit.edu	37	12	49445352	49445352	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr12:49445352G>T	ENST00000301067.7	-	10	2113	c.2114C>A	c.(2113-2115)tCa>tAa	p.S705*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGAAGCAGGTGAGTCCTCAGG	0.672000													10	99					0.0931896	0.0940056	0.411799	1	0
CHD9	80205	broad.mit.edu	37	16	53338213	53338213	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr16:53338213G>A	ENST00000566029.1	+	31	6504	c.6295G>A	c.(6295-6297)Gaa>Aaa	p.E2099K	CHD9_ENST00000398510.3_Missense_Mutation_p.E2099K|CHD9_ENST00000447540.1_Missense_Mutation_p.E2099K|CHD9_ENST00000564845.1_Missense_Mutation_p.E2099K			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2099					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGGAAAATGTGAAACAGACAG	0.448000													3	23					0	0	0.115264	0	0
NID1	4811	broad.mit.edu	37	1	236180524	236180524	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:236180524G>A	ENST00000264187.6	-	10	2260	c.2178C>T	c.(2176-2178)atC>atT	p.I726I	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	726	EGF-like 3; calcium-binding (Potential).				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GATTATTGCAGATTGTGTGGC	0.438000													9	208					0	0	0.387290	0	0
PIGU	128869	broad.mit.edu	37	20	33222438	33222438	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr20:33222438G>C	ENST00000374820.2	-	5	470	c.450C>G	c.(448-450)ttC>ttG	p.F150L	PIGU_ENST00000452740.2_Missense_Mutation_p.F170L|PIGU_ENST00000480175.1_5'UTR			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	170					attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						TAGTCAAAATGAAGAAAGCAA	0.403000													7	91					0	0	0.361761	0	0
UBXN2A	165324	broad.mit.edu	37	2	24194153	24194153	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:24194153G>A	ENST00000309033.4	+	3	293	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	UBXN2A_ENST00000535786.1_Missense_Mutation_p.E17K|UBXN2A_ENST00000404924.1_Missense_Mutation_p.E17K|UBXN2A_ENST00000446425.2_3'UTR	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	17										endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						TAGGGTTTGTGAAACAGGATC	0.308000													7	100					0	0	0.307466	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178541064	178541064	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr5:178541064G>T	ENST00000251582.7	-	22	3541	c.3440C>A	c.(3439-3441)tCc>tAc	p.S1147Y		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1147					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S1147Y(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ATTGGTGCTGGAGGCATTGAG	0.557000													12	135					2.62699e-14	2.90431e-14	0.479597	1	0
XKRX	402415	broad.mit.edu	37	X	100169786	100169786	+	Missense_Mutation	SNP	A	A	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chrX:100169786A>T	ENST00000328526.5	-	3	1495	c.930T>A	c.(928-930)aaT>aaA	p.N310K	XKRX_ENST00000468904.1_3'UTR|XKRX_ENST00000372956.2_Missense_Mutation_p.N297K	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	297						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TCTCAATGTTATTGGGCATCT	0.493000													9	162					0	0	0.361761	0	0
TWF2	11344	broad.mit.edu	37	3	52263941	52263941	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:52263941G>A	ENST00000305533.5	-	7	998	c.755C>T	c.(754-756)tCt>tTt	p.S252F	TLR9_ENST00000597542.1_5'UTR|TWF2_ENST00000499914.2_Missense_Mutation_p.S252F|TLR9_ENST00000494383.1_Silent_p.V112V	NM_007284.3	NP_009215.1			twinfilin actin-binding protein 2											breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTCACCTACAGACTCAAGGGG	0.667000													3	71					0	0	0.115264	0	0
OR7A17	26333	broad.mit.edu	37	19	14992003	14992003	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:14992003G>C	ENST00000327462.2	-	1	261	c.165C>G	c.(163-165)ctC>ctG	p.L55L		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	55					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)					TGGGGGTGTGGAGGTGGGAGT	0.498000													6	81					0	0	0.278610	0	0
TTN	7273	broad.mit.edu	37	2	179576038	179576038	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:179576038C>T	ENST00000589042.1	-	97	28149	c.27925G>A	c.(27925-27927)Gat>Aat	p.D9309N	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D8065N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D8992N|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8992	Ig-like 76.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTGAACATCTCTCAATTGT	0.363000													3	72					0	0	0.150653	0	0
MED13	9969	broad.mit.edu	37	17	60059866	60059866	+	Silent	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:60059866G>T	ENST00000397786.2	-	16	3574	c.3498C>A	c.(3496-3498)ctC>ctA	p.L1166L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1166					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGGTAGCCCTGAGAGCTTCAA	0.348000													13	134					2.27111e-07	2.43605e-07	0.411799	1	0
C2orf68	388969	broad.mit.edu	37	2	85836116	85836116	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:85836116G>C	ENST00000306336.5	-	4	497	c.453C>G	c.(451-453)ctC>ctG	p.L151L	USP39_ENST00000459775.1_Intron	NM_001013649.3	NP_001013671.2	Q2NKX9	CB068_HUMAN	chromosome 2 open reading frame 68	151										breast(1)|central_nervous_system(1)|endometrium(1)	3						TACGCAACTTGAGGGCTTCTC	0.552000													7	115					0	0	0.335167	0	0
ABCB6	10058	broad.mit.edu	37	2	220077977	220077977	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:220077977G>A	ENST00000265316.3	-	12	2107	c.1791C>T	c.(1789-1791)ttC>ttT	p.F597F	ABCB6_ENST00000439002.2_Silent_p.F551F	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	597	ABC transporter.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGCATAGCTGAAGTGCACGT	0.537000													6	45					0	0	0.248553	0	0
C1orf54	79630	broad.mit.edu	37	1	150248191	150248191	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:150248191G>C	ENST00000369102.1	+	5	942	c.172G>C	c.(172-174)Gag>Cag	p.E58Q	C1orf54_ENST00000369099.3_Missense_Mutation_p.E58Q|C1orf54_ENST00000369098.3_Missense_Mutation_p.E58Q			Q8WWF1	CA054_HUMAN	chromosome 1 open reading frame 54	58						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCCATATTTGAGTCAGAGGA	0.383000													9	78					0	0	0.361761	0	0
TTN	7273	broad.mit.edu	37	2	179497319	179497319	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:179497319C>G	ENST00000589042.1	-	235	43638	c.43414G>C	c.(43414-43416)Gaa>Caa	p.E14472Q	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E11904Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E5599Q|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E12831Q|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E5407Q|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E5532Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12831	Fibronectin type-III 4.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTCATCTTCAAAAGCAGCT	0.388000													14	113					0	0	0.435327	0	0
NTRK1	4914	broad.mit.edu	37	1	156845889	156845889	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:156845889C>T	ENST00000368196.3	+	12	1621	c.1501C>T	c.(1501-1503)Cgc>Tgc	p.R501C	NTRK1_ENST00000524377.1_Missense_Mutation_p.R507C|NTRK1_ENST00000392302.2_Missense_Mutation_p.R471C|NTRK1_ENST00000358660.3_Missense_Mutation_p.R504C	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	507					activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CCACATCAAGCGCCGGGACAT	0.627000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			14	187					0	0	0.539581	0	0
ITFG3	83986	broad.mit.edu	37	16	312520	312520	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr16:312520C>T	ENST00000399932.3	+	8	1390	c.939C>T	c.(937-939)ctC>ctT	p.L313L	ITFG3_ENST00000301679.2_Silent_p.L313L|ITFG3_ENST00000450082.2_Silent_p.L313L|ITFG3_ENST00000600536.1_Silent_p.L313L|ITFG3_ENST00000301678.3_Silent_p.L313L|ITFG3_ENST00000442458.2_Silent_p.L313L	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	313						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				AGAGCATGCTCAATGCCACCA	0.652000													11	88					0	0	0.435327	0	0
MCCC1	56922	broad.mit.edu	37	3	182769981	182769981	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:182769981G>A	ENST00000492597.1	-	8	1296	c.594C>T	c.(592-594)gtC>gtT	p.V198V	MCCC1_ENST00000539926.1_Silent_p.V172V|MCCC1_ENST00000265594.4_Silent_p.V307V			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	307	ATP-grasp.|Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	TAGCAGCTCTGACTGCAGCTT	0.348000													7	81					0	0	0.361761	0	0
NOG	9241	broad.mit.edu	37	17	54672146	54672146	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:54672146G>A	ENST00000332822.4	+	1	1087	c.562G>A	c.(562-564)Gag>Aag	p.E188K		NM_005450.4	NP_005441.1	Q13253	NOGG_HUMAN	noggin	188					BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing	extracellular space	cytokine binding|protein homodimerization activity			ovary(1)	1	Breast(9;5.24e-08)					CTCCGTGCCCGAGGGCATGGT	0.687000													3	33					0	0	0.184627	0	0
GBE1	2632	broad.mit.edu	37	3	81586104	81586104	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:81586104C>T	ENST00000429644.2	-	13	2404	c.1761G>A	c.(1759-1761)atG>atA	p.M587I	GBE1_ENST00000489715.1_Missense_Mutation_p.M546I	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	587					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.M587I(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CCAATCTATTCATATCCCTGT	0.413000									Glycogen Storage Disease, type IV				5	88					0	0	0.217242	0	0
ACAN	176	broad.mit.edu	37	15	89403660	89403660	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr15:89403660C>T	ENST00000439576.2	+	13	7310	c.6936C>T	c.(6934-6936)caC>caT	p.H2312H	ACAN_ENST00000561243.1_Silent_p.H2312H|ACAN_ENST00000559004.1_Intron|ACAN_ENST00000352105.7_Intron	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2312					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGGCGAGCACTGTAACATAG	0.627000													3	31					0	0	0.184627	0	0
DNAH6	1768	broad.mit.edu	37	2	84806722	84806722	+	Silent	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:84806722A>G	ENST00000389394.3	+	14	2285	c.2148A>G	c.(2146-2148)gcA>gcG	p.A716A	DNAH6_ENST00000237449.6_Silent_p.A716A|DNAH6_ENST00000398278.2_Silent_p.A716A	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	716	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CACAAGATGCAGAGTATAAAC	0.353000													23	66					0	0	0.654019	0	0
USP2	9099	broad.mit.edu	37	11	119244114	119244114	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr11:119244114C>T	ENST00000260187.2	-	2	371	c.77G>A	c.(76-78)gGc>gAc	p.G26D	RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	26	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GGCACCATAGCCCGACTTGGC	0.597000													5	35					0	0	0.217242	0	0
TMEM151A	256472	broad.mit.edu	37	11	66063113	66063113	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr11:66063113G>A	ENST00000327259.4	+	2	1540	c.1396G>A	c.(1396-1398)Ggt>Agt	p.G466S		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	466						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						GGATGGGCAGGGTGCTCTCTG	0.652000													5	27					0	0	0.248553	0	0
ITIH6	347365	broad.mit.edu	37	X	54784222	54784222	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chrX:54784222G>A	ENST00000218436.6	-	8	2314	c.2285C>T	c.(2284-2286)cCt>cTt	p.P762L		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	762	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										AGGTTTCACAGGTGGGACTTG	0.532000													7	97					0	0	0.278610	0	0
NCAM1	4684	broad.mit.edu	37	11	113130955	113130955	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr11:113130955G>A	ENST00000316851.7	+	15	2011	c.2011G>A	c.(2011-2013)Gag>Aag	p.E671K	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Missense_Mutation_p.E553K	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	681	Fibronectin type-III 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TGCTGAGTATGAGGTCTACGT	0.567000													8	88					0	0	0.335167	0	0
ZIC2	7546	broad.mit.edu	37	13	100637333	100637333	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr13:100637333G>A	ENST00000376335.3	+	2	1502	c.1209G>A	c.(1207-1209)acG>acA	p.T403T	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	403			T -> K (in HPE5).		brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGTCCTACACGCACCCCAGCT	0.667000													13	124					0	0	0.500413	0	0
SLC39A6	25800	broad.mit.edu	37	18	33706705	33706705	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr18:33706705C>G	ENST00000269187.5	-	2	479	c.266G>C	c.(265-267)aGa>aCa	p.R89T	SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000590986.1_Missense_Mutation_p.R89T	NM_012319.3	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	89						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TATATGGATTCTTTTAATCTT	0.413000													4	27					0	0	0.150653	0	0
UPF2	26019	broad.mit.edu	37	10	11994119	11994119	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr10:11994119C>T	ENST00000356352.2	-	14	3453	c.2980G>A	c.(2980-2982)Gaa>Aaa	p.E994K	UPF2_ENST00000357604.5_Missense_Mutation_p.E994K|UPF2_ENST00000397053.2_Missense_Mutation_p.E994K			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	994	Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				ATGGATTCTTCCAGAGAATTA	0.368000													20	198					0	0	0.693898	0	0
SLC25A39	51629	broad.mit.edu	37	17	42397441	42397441	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:42397441G>A	ENST00000225308.8	-	12	1158	c.984C>T	c.(982-984)atC>atT	p.I328I	SLC25A39_ENST00000590194.1_Silent_p.I328I|SLC25A39_ENST00000537904.2_Silent_p.I313I|SLC25A39_ENST00000586016.1_Silent_p.I204I|SLC25A39_ENST00000377095.5_Silent_p.I336I	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	336					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGCTGATCATGATGGCACAGG	0.617000													15	130					0	0	0.557998	0	0
OR6Q1	219952	broad.mit.edu	37	11	57799186	57799186	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr11:57799186C>T	ENST00000302622.3	+	1	785	c.762C>T	c.(760-762)ctC>ctT	p.L254L	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L254L(1)		biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TGGTGAGCCTCTTCTATGGCA	0.522000													18	128					0	0	0.654019	0	0
DMXL2	23312	broad.mit.edu	37	15	51772766	51772766	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr15:51772766G>C	ENST00000251076.5	-	24	6824	c.6537C>G	c.(6535-6537)ctC>ctG	p.L2179L	DMXL2_ENST00000449909.3_Silent_p.L1543L|DMXL2_ENST00000543779.2_Silent_p.L2179L|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2179						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GCAAAAATTTGAGTTCCATCC	0.393000													6	64					0	0	0.278610	0	0
ARID2	196528	broad.mit.edu	37	12	46298835	46298835	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr12:46298835G>C	ENST00000334344.6	+	21	5654	c.5482G>C	c.(5482-5484)Gaa>Caa	p.E1828Q	ARID2_ENST00000444670.1_Missense_Mutation_p.E1438Q|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1828					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TAAGGAACAAGAAAAAGACTC	0.388000			"""N, S, F"""		hepatocellular carcinoma								3	34					0	0	0.150653	0	0
RNASET2	8635	broad.mit.edu	37	6	167352457	167352457	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr6:167352457C>T	ENST00000507747.1	-	6	313	c.314G>A	c.(313-315)aGg>aAg	p.R105K	RNASET2_ENST00000476238.2_Silent_p.Q124Q|RNASET2_ENST00000496851.2_5'UTR|RNASET2_ENST00000508775.1_Silent_p.Q124Q|RNASET2_ENST00000366855.6_Silent_p.Q86Q																							GCGCATCCACCTGGGCGGCGC	0.562000													9	110					0	0	0.411799	0	0
MCM10	55388	broad.mit.edu	37	10	13225054	13225054	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr10:13225054G>A	ENST00000378694.1	+	7	1127	c.1052G>A	c.(1051-1053)gGg>gAg	p.G351E	MCM10_ENST00000378714.3_Missense_Mutation_p.G351E|MCM10_ENST00000484800.2_Missense_Mutation_p.G352E			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	352					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						ACTGTCGTAGGGATCCTCAAT	0.463000													14	122					0	0	0.557998	0	0
PADI2	11240	broad.mit.edu	37	1	17410286	17410286	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:17410286C>G	ENST00000375486.4	-	9	1048	c.985G>C	c.(985-987)Gag>Cag	p.E329Q	PADI2_ENST00000375481.1_Missense_Mutation_p.E329Q|PADI2_ENST00000444885.2_Missense_Mutation_p.E213Q	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	329					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TTGGTTTTCTCCACAAGGTTC	0.542000													11	124					0	0	0.435327	0	0
MUC5B	727897	broad.mit.edu	37	11	1263825	1263825	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr11:1263825G>C	ENST00000447027.1	+	31	5782	c.5724G>C	c.(5722-5724)tgG>tgC	p.W1908C	MUC5B_ENST00000529681.1_Missense_Mutation_p.W1905C|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1905	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGACGACCTGGATCCTCACAA	0.637000													14	209					0	0	0.539581	0	0
UGDH	7358	broad.mit.edu	37	4	39512009	39512009	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr4:39512009G>C	ENST00000316423.6	-	5	969	c.627C>G	c.(625-627)ctC>ctG	p.L209L	UGDH_ENST00000507089.1_Silent_p.L112L|UGDH_ENST00000506179.1_Silent_p.L209L|UGDH_ENST00000501493.2_Silent_p.L142L	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	209					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	TATTAGTGGTGAGGATCTTTT	0.423000													7	119					0	0	0.361761	0	0
CD209	30835	broad.mit.edu	37	19	7810767	7810767	+	Missense_Mutation	SNP	G	G	A	rs146082308		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:7810767G>A	ENST00000315599.7	-	4	407	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000394173.4_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.R129W(4)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCGGGTCAGCTCC	0.567000													5	200					0	0	0.335167	0	0
TKTL2	84076	broad.mit.edu	37	4	164393349	164393349	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr4:164393349C>T	ENST00000280605.3	-	1	1698	c.1538G>A	c.(1537-1539)gGa>gAa	p.G513E		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	513						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAGAGTAACTCCAGCTCCAAT	0.458000													17	140					0	0	0.539581	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42161536	42161536	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr20:42161536G>C	ENST00000444063.1	+	9	1270	c.1138G>C	c.(1138-1140)Gac>Cac	p.D380H	L3MBTL1_ENST00000427442.2_Missense_Mutation_p.D448H|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.D380H|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.D380H|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.D448H			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	380	Interaction with monomethylated and dimethylated peptides.				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GGTGCACTTTGACAACTGGGA	0.582000													9	93					0	0	0.307466	0	0
MSANTD3-TMEFF1	100526694	broad.mit.edu	37	9	103312381	103312381	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr9:103312381A>T	ENST00000502978.1	+	7	604	c.604A>T	c.(604-606)Aga>Tga	p.R202*	TMEFF1_ENST00000334943.6_Silent_p.T199T|TMEFF1_ENST00000374879.4_Silent_p.T238T	NM_001198812.1	NP_001185741.1	Q8IYR6	TEFF1_HUMAN		0	Kazal-like 2.				multicellular organismal development	integral to membrane|plasma membrane											TTACAGATACAGATGACACTA	0.343000													6	75					0	0	0.217242	0	0
BLM	641	broad.mit.edu	37	15	91333991	91333991	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr15:91333991G>C	ENST00000355112.3	+	15	3054	c.2936G>C	c.(2935-2937)aGa>aCa	p.R979T	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Missense_Mutation_p.R979T	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	979	Helicase C-terminal.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GAATCTGGCAGAGCTGGAAGA	0.438000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				9	105					0	0	0.307466	0	0
APOM	55937	broad.mit.edu	37	6	31625244	31625244	+	Missense_Mutation	SNP	T	T	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr6:31625244T>G	ENST00000375916.3	+	4	927	c.431T>G	c.(430-432)tTt>tGt	p.F144C	APOM_ENST00000375920.4_Missense_Mutation_p.F72C|APOM_ENST00000375918.2_Missense_Mutation_p.F72C	NM_019101.2	NP_061974.2	O95445	APOM_HUMAN	apolipoprotein M	144					cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1)	7						TACCAGCGCTTTCTCCTCTAC	0.562000													5	75					0	0	0.217242	0	0
CTPS2	56474	broad.mit.edu	37	X	16707722	16707722	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chrX:16707722G>A	ENST00000443824.1	-	8	1466	c.723C>T	c.(721-723)gtC>gtT	p.V241V	CTPS2_ENST00000359276.4_Silent_p.V241V|CTPS2_ENST00000380241.3_Silent_p.V241V	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	241					glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					GGATACATATGACCTAAGTGG	0.388000													8	123					0	0	0.307466	0	0
RNF169	254225	broad.mit.edu	37	11	74545750	74545750	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr11:74545750A>G	ENST00000299563.4	+	5	885	c.872A>G	c.(871-873)cAg>cGg	p.Q291R		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	291							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						GAAAGGAGTCAGAGCTGTAGT	0.443000													4	58					0	0	0.150653	0	0
MFSD2A	84879	broad.mit.edu	37	1	40432551	40432551	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:40432551G>A	ENST00000372809.5	+	8	1056	c.913G>A	c.(913-915)Ggc>Agc	p.G305S	MFSD2A_ENST00000480630.1_Intron|MFSD2A_ENST00000372811.5_Missense_Mutation_p.G292S|MFSD2A_ENST00000420632.2_Missense_Mutation_p.G136S	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	305					transmembrane transport	endoplasmic reticulum membrane|integral to membrane		p.G292C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CATGAGCCACGGCCCATACAT	0.562000													12	188					0	0	0.457914	0	0
TMC8	147138	broad.mit.edu	37	17	76136966	76136966	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:76136966G>C	ENST00000318430.5	+	16	2328	c.1954G>C	c.(1954-1956)Gag>Cag	p.E652Q	TMC8_ENST00000589691.1_Missense_Mutation_p.E429Q|TMC8_ENST00000591144.1_3'UTR	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	652						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			ACTGCTGCCGGAGCCAGGCCC	0.682000													3	34					0	0	0.150653	0	0
DOLPP1	57171	broad.mit.edu	37	9	131843433	131843433	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr9:131843433C>G	ENST00000372546.4	+	1	55	c.23C>G	c.(22-24)tCg>tGg	p.S8W	DOLPP1_ENST00000540102.1_5'UTR|DOLPP1_ENST00000406974.3_Missense_Mutation_p.S8W	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN	dolichyldiphosphatase 1	8					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						GGACAGTGCTCGCTCCCCGCT	0.672000													11	91					0	0	0.520397	0	0
LOC100505782	100505782	broad.mit.edu	37	17	39564896	39564896	+	RNA	SNP	T	T	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:39564896T>A	ENST00000432258.1	+	0	310				AC003958.2_ENST00000430006.1_RNA																							TGCTCATGGTTCTTCTTGAGG	0.562000													5	37					0	0	0.217242	0	0
KIAA1211L	343990	broad.mit.edu	37	2	99413948	99413948	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:99413948C>T	ENST00000397899.2	-	8	2800	c.2469G>A	c.(2467-2469)gcG>gcA	p.A823A		NM_207362.2	NP_997245.2			KIAA1211-like																		TCCAGGGTGGCGCAGGCTGCC	0.587000													12	101					0	0	0.500413	0	0
TOM1L2	146691	broad.mit.edu	37	17	17754256	17754256	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:17754256G>A	ENST00000581396.1	-	12	1235	c.1139C>T	c.(1138-1140)gCg>gTg	p.A380V	TOM1L2_ENST00000379504.3_Missense_Mutation_p.A430V|TOM1L2_ENST00000542206.1_Missense_Mutation_p.A311V|TOM1L2_ENST00000478943.1_Missense_Mutation_p.A163V|TOM1L2_ENST00000318094.10_Missense_Mutation_p.A385V|TOM1L2_ENST00000395739.4_Missense_Mutation_p.A385V|TOM1L2_ENST00000535933.1_Missense_Mutation_p.A406V|TOM1L2_ENST00000540946.1_Intron	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	430					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					AGATGGCTGCGCAACGGGGAT	0.587000													14	121					0	0	0.500413	0	0
SCUBE1	80274	broad.mit.edu	37	22	43619192	43619192	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr22:43619192G>A	ENST00000360835.4	-	11	1364	c.1238C>T	c.(1237-1239)aCc>aTc	p.T413I		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1						adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CCGGGGGGAGGTCTTGGCGCG	0.642000													15	205					0	0	0.575678	0	0
ABHD3	171586	broad.mit.edu	37	18	19239256	19239256	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr18:19239256C>T	ENST00000578270.1	-	5	1072	c.132G>A	c.(130-132)ttG>ttA	p.L44L	ABHD3_ENST00000580981.1_Silent_p.L186L|ABHD3_ENST00000289119.2_Silent_p.L239L			Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	239						integral to membrane	carboxylesterase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						CAGCTGCCATCAAAGGCGTTT	0.393000													7	108					0	0	0.248553	0	0
CRLF1	9244	broad.mit.edu	37	19	18709656	18709656	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:18709656C>G	ENST00000392386.3	-	3	646	c.453G>C	c.(451-453)ttG>ttC	p.L151F		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	151	Fibronectin type-III 1.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						AGCGGCAGGTCAAGTCCTTCA	0.607000													8	90					0	0	0.387290	0	0
HMCN1	83872	broad.mit.edu	37	1	186094827	186094827	+	Silent	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:186094827A>G	ENST00000271588.4	+	82	12820	c.12591A>G	c.(12589-12591)acA>acG	p.T4197T	HMCN1_ENST00000367492.2_Silent_p.T4197T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4197	Ig-like C2-type 41.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAATCCCCACACCAGCAATTA	0.403000													7	100					0	0	0.387290	0	0
TTN	7273	broad.mit.edu	37	2	179577067	179577067	+	Silent	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:179577067G>T	ENST00000589042.1	-	95	27806	c.27582C>A	c.(27580-27582)tcC>tcA	p.S9194S	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.S7950S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.S8877S|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8877	Ig-like 75.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGCTGAACAGGAATCTTTTC	0.388000													20	243					4.47668e-21	4.96834e-21	0.667858	1	0
FLG	2312	broad.mit.edu	37	1	152282137	152282137	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:152282137G>T	ENST00000368799.1	-	3	5260	c.5225C>A	c.(5224-5226)cCc>cAc	p.P1742H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1742	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTGATGGGGCCCAGCCTG	0.587000									Ichthyosis				50	456					6.3237e-29	7.03176e-29	0.870114	1	0
DCAF4L1	285429	broad.mit.edu	37	4	41984112	41984112	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr4:41984112C>G	ENST00000333141.5	+	1	400	c.303C>G	c.(301-303)atC>atG	p.I101M		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	101										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						AGTACGGCATCATCAGCCTGC	0.557000													6	62					0	0	0.248553	0	0
MEPE	56955	broad.mit.edu	37	4	88766951	88766951	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr4:88766951G>A	ENST00000497649.2	+	6	1237	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	MEPE_ENST00000424957.3_Missense_Mutation_p.E311K|MEPE_ENST00000540395.1_Missense_Mutation_p.E198K|MEPE_ENST00000560249.1_Missense_Mutation_p.E198K|MEPE_ENST00000361056.3_Missense_Mutation_p.E311K|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.E342K			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	311					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AGAGAGAGAAGAAAATGGTGG	0.448000													8	41					0	0	0.307466	0	0
CARS2	79587	broad.mit.edu	37	13	111296814	111296814	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr13:111296814C>T	ENST00000257347.4	-	13	1397	c.1334G>A	c.(1333-1335)aGa>aAa	p.R445K	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	445					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	AGCAGGACTTCTCGGCCCTTC	0.423000													5	65					0	0	0.248553	0	0
HSPA1A	3303	broad.mit.edu	37	6	31785445	31785445	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr6:31785445G>A	ENST00000375651.5	+	1	2155	c.1912G>A	c.(1912-1914)Gag>Aag	p.E638K	HSPA1A_ENST00000608703.1_Missense_Mutation_p.E473K|HSPA1A_ENST00000458062.2_Missense_Mutation_p.E547K	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	638					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			endometrium(1)|ovary(1)|stomach(1)	3						CCCCACCATTGAGGAGGTAGA	0.547000													6	83					0	0	0.278610	0	0
LZTS1	11178	broad.mit.edu	37	8	20110556	20110556	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr8:20110556C>T	ENST00000381569.1	-	3	1243	c.886G>A	c.(886-888)Gag>Aag	p.E296K	LZTS1_ENST00000265801.6_Missense_Mutation_p.E296K|LZTS1_ENST00000522290.1_Missense_Mutation_p.E296K			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	296					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GGCCGCTCCTCGTAGGCCAGG	0.677000													5	47					0	0	0.248553	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57076793	57076793	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr11:57076793C>G	ENST00000532437.1	-	5	3703	c.3392G>C	c.(3391-3393)aGa>aCa	p.R1131T	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.R1131T			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1131	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ACCACTCACTCTGTCGTTGCC	0.577000													13	144					0	0	0.520397	0	0
DLEC1	9940	broad.mit.edu	37	3	38163892	38163892	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:38163892C>G	ENST00000308059.6	+	37	5278	c.5257C>G	c.(5257-5259)Cac>Gac	p.H1753D	DLEC1_ENST00000346219.3_Silent_p.L1711L|DLEC1_ENST00000452631.2_Missense_Mutation_p.H1756D			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1753					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CATGTTGCCTCACCAGCCCTG	0.602000													7	121					0	0	0.335167	0	0
IZUMO2	126123	broad.mit.edu	37	19	50666221	50666221	+	Splice_Site	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:50666221C>A	ENST00000293405.3	-	1	231	c.231G>T	c.(229-231)gtG>gtT	p.V77V		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	77						integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						AACACGCACCCACTTTCCCCA	0.682000													5	69					0.000157383	0.000164226	0.278610	1	0
DZIP1	22873	broad.mit.edu	37	13	96274734	96274734	+	Splice_Site	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr13:96274734G>A	ENST00000347108.3	-	7	1405	c.973C>T	c.(973-975)Caa>Taa	p.Q325*	DZIP1_ENST00000376829.2_Splice_Site_p.Q325*|DZIP1_ENST00000361396.2_Splice_Site_p.Q325*|DZIP1_ENST00000361156.3_Splice_Site_p.Q325*			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	325					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TCTGACAGTTGCTATAAGATA	0.373000													12	125					0	0	0.520397	0	0
TIAM1	7074	broad.mit.edu	37	21	32617916	32617916	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr21:32617916G>T	ENST00000286827.3	-	7	1943	c.1472C>A	c.(1471-1473)cCc>cAc	p.P491H	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.P491H	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	491	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GGCGTGTTTGGGGATGCTGTT	0.552000													5	56					4.096e-09	4.44312e-09	0.217242	1	0
IFT81	28981	broad.mit.edu	37	12	110641690	110641690	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr12:110641690G>C	ENST00000242591.5	+	15	2085	c.1579G>C	c.(1579-1581)Gaa>Caa	p.E527Q	IFT81_ENST00000552912.1_Missense_Mutation_p.E527Q	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	527					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						ggagtgtgatgaaaagaaatc	0.388000													9	36					0	0	0.307466	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914814	94914814	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr14:94914814G>T	ENST00000334708.3	-	2	362	c.298C>A	c.(298-300)Ctg>Atg	p.L100M	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	100					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		AGGCCCTCCAGGATCAGAGCT	0.617000													9	77					0.000442599	0.000456059	0.335167	1	0
MAGEE2	139599	broad.mit.edu	37	X	75004685	75004685	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chrX:75004685G>T	ENST00000373359.2	-	1	394	c.202C>A	c.(202-204)Ctg>Atg	p.L68M		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	68										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGGACCTCCAGGTCATTCGGG	0.567000													4	71					0.00024832	0.000257252	0.150653	1	0
ATRX	546	broad.mit.edu	37	X	76938191	76938191	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chrX:76938191C>A	ENST00000373344.5	-	9	2771	c.2557G>T	c.(2557-2559)Gag>Tag	p.E853*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.E815*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	853					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTGTGTTTCTCATCTTCAGAA	0.348000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						20	387					0.000375601	0.000387717	0.639603	1	0
BTK	695	broad.mit.edu	37	X	100617172	100617172	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chrX:100617172C>T	ENST00000308731.7	-	7	740	c.577G>A	c.(577-579)Gag>Aag	p.E193K	BTK_ENST00000372880.1_Missense_Mutation_p.E193K	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	193					calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGGTCCTCCTCAGGCGTTGGG	0.468000									Agammaglobulinemia, X-linked				7	116					0	0	0.307466	0	0
ACAA2	10449	broad.mit.edu	37	18	47320775	47320775	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr18:47320775G>A	ENST00000285093.10	-	5	927	c.452C>T	c.(451-453)tCa>tTa	p.S151L	ACAA2_ENST00000587994.1_Missense_Mutation_p.S148L|ACAA2_ENST00000589432.1_Missense_Mutation_p.S96L	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	151					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						ATCTGTTAATGATACCCATAA	0.328000													3	44					0	0	0.150653	0	0
BNIPL	149428	broad.mit.edu	37	1	151015476	151015476	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:151015476G>A	ENST00000295294.7	+	5	841	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	BNIPL_ENST00000368931.3_Missense_Mutation_p.E160K	NM_001159642.1	NP_001153114.1	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	160					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGAGACAGCTGAAAGGCTGGG	0.542000													14	169					0	0	0.479597	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18776929	18776929	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr9:18776929C>T	ENST00000380548.4	+	19	3041	c.2702C>T	c.(2701-2703)gCg>gTg	p.A901V		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	901	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CGCTGCCCGGCGCGCAGGGTC	0.652000													4	39					0	0	0.150653	0	0
MBNL2	10150	broad.mit.edu	37	13	97999162	97999162	+	Silent	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr13:97999162A>G	ENST00000345429.6	+	5	1426	c.645A>G	c.(643-645)gtA>gtG	p.V215V	MBNL2_ENST00000376673.3_Silent_p.V215V|MBNL2_ENST00000445661.2_Intron|MBNL2_ENST00000343600.4_Silent_p.V215V|MBNL2_ENST00000397601.1_Silent_p.V215V	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	215					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			ACAACACCGTAACCGTTTGTA	0.537000													14	102					0	0	0.500413	0	0
CSMD3	114788	broad.mit.edu	37	8	114326926	114326926	+	Missense_Mutation	SNP	G	G	T	rs111400281		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr8:114326926G>T	ENST00000297405.5	-	2	519	c.275C>A	c.(274-276)aCa>aAa	p.T92K	CSMD3_ENST00000343508.3_Missense_Mutation_p.T52K|CSMD3_ENST00000455883.2_Missense_Mutation_p.T92K|CSMD3_ENST00000352409.3_Missense_Mutation_p.T92K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	92	CUB 1.					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						TATTACCCATGTGCAGTTTGC	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	150					4.68919e-08	5.06749e-08	0.361761	1	0
BIRC6	57448	broad.mit.edu	37	2	32670646	32670646	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:32670646G>A	ENST00000421745.2	+	21	4528	c.4394G>A	c.(4393-4395)gGa>gAa	p.G1465E		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1465					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GATCTGGCTGGATGCAGTACA	0.378000													13	39					0	0	0.520397	0	0
CAP1	10487	broad.mit.edu	37	1	40536608	40536608	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:40536608C>T	ENST00000372797.3	+	12	1862	c.1301C>T	c.(1300-1302)tCt>tTt	p.S434F	CAP1_ENST00000372798.1_Missense_Mutation_p.S433F|CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000340450.3_Missense_Mutation_p.S433F|CAP1_ENST00000372802.1_Missense_Mutation_p.S433F|CAP1_ENST00000372792.2_Missense_Mutation_p.S434F|CAP1_ENST00000372805.3_Missense_Mutation_p.S434F	NM_001105530.1|NM_006367.3	NP_001099000|NP_006358	Q01518	CAP1_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	434	C-CAP/cofactor C-like.				activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGTGCCAAATCTTCCGAGATG	0.408000													10	179					0	0	0.411799	0	0
OR5T3	390154	broad.mit.edu	37	11	56020432	56020432	+	Silent	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr11:56020432T>C	ENST00000303059.3	+	1	757	c.757T>C	c.(757-759)Ttg>Ctg	p.L253L		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTTCATTCTGTTGTCCATTCT	0.413000													14	184					0	0	0.500413	0	0
OR7C1	26664	broad.mit.edu	37	19	14910475	14910475	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:14910475G>C	ENST00000248073.2	-	1	548	c.474C>G	c.(472-474)ctC>ctG	p.L158L	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	158					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						TCAAGGTCTCGAGCAGGGAAC	0.522000													8	157					0	0	0.307466	0	0
AKR1A1	10327	broad.mit.edu	37	1	46027485	46027485	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:46027485C>T	ENST00000372070.3	+	3	766	c.19C>T	c.(19-21)Cta>Tta	p.L7L	AKR1A1_ENST00000471651.1_Silent_p.L7L|AKR1A1_ENST00000351829.4_Silent_p.L7L	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	7					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					TTCCTGTGTTCTACTGCACAC	0.502000													10	129					0	0	0.479597	0	0
C19orf12	83636	broad.mit.edu	37	19	30199175	30199175	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:30199175G>A	ENST00000323670.9	-	2	285	c.146C>T	c.(145-147)cCg>cTg	p.P49L	C19orf12_ENST00000392275.1_Intron|C19orf12_ENST00000592153.1_Missense_Mutation_p.P49L|C19orf12_ENST00000392278.2_Missense_Mutation_p.P60L|C19orf12_ENST00000392276.1_Intron	NM_001256047.1|NM_031448.4	NP_001242976.1|NP_113636.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	49						integral to membrane						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			GGCGAGTCCCGGTGGGCCGCC	0.617000													23	106					0	0	0.769981	0	0
OR6F1	343169	broad.mit.edu	37	1	247875997	247875997	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:247875997G>C	ENST00000302084.2	-	1	108	c.61C>G	c.(61-63)Caa>Gaa	p.Q21E	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGAAGAGTTTGAGAACCAGGA	0.473000													16	207					0	0	0.575678	0	0
GPR158	57512	broad.mit.edu	37	10	25464659	25464659	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr10:25464659G>C	ENST00000376351.3	+	1	669	c.310G>C	c.(310-312)Gag>Cag	p.E104Q	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	104						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CGGCCGCTACGAGTTGGCGGG	0.677000													5	81					0	0	0.307466	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227261689	227261689	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:227261689A>G	ENST00000366769.3	-	19	3902	c.2611T>C	c.(2611-2613)Ttt>Ctt	p.F871L	CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.F871L|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.F790L|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.F871L|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.F871L|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.F871L|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.F871L	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	871					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AGTTTCGCAAAACGACGCATT	0.378000													10	221					0	0	0.457914	0	0
P2RX7	5027	broad.mit.edu	37	12	121622169	121622169	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr12:121622169C>T	ENST00000328963.5	+	12	1296	c.842C>T	c.(841-843)cCg>cTg	p.P281L	P2RX7_ENST00000546057.1_Missense_Mutation_p.P451L|P2RX7_ENST00000541446.1_Missense_Mutation_p.P162L|P2RX7_ENST00000535250.1_Missense_Mutation_p.P361L|P2RX7_ENST00000443520.3_3'UTR			A8K2Z0	A8K2Z0_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	451						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GACACACCCCCGATTCCTGGA	0.547000													4	112					0	0	0.217242	0	0
ATRN	8455	broad.mit.edu	37	20	3562949	3562949	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr20:3562949G>A	ENST00000262919.5	+	16	2780	c.2712G>A	c.(2710-2712)ctG>ctA	p.L904L	ATRN_ENST00000446916.2_Silent_p.L904L	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	904	C-type lectin.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CTCGGGGACTGAAGGCTGCAA	0.453000													10	176					0	0	0.335167	0	0
BMS1	9790	broad.mit.edu	37	10	43293936	43293936	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr10:43293936G>C	ENST00000374518.5	+	12	2173	c.2110G>C	c.(2110-2112)Gaa>Caa	p.E704Q		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor						ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TAATGAAGAAGAAGATGATGA	0.438000													7	75					0	0	0.307466	0	0
NAV3	89795	broad.mit.edu	37	12	78443825	78443825	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr12:78443825G>C	ENST00000397909.2	+	10	2249	c.2076G>C	c.(2074-2076)ttG>ttC	p.L692F	NAV3_ENST00000266692.7_Missense_Mutation_p.L692F|NAV3_ENST00000228327.6_Missense_Mutation_p.L692F|NAV3_ENST00000536525.2_Missense_Mutation_p.L692F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	692						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TAGCAGACTTGAGGCAGAATT	0.343000										HNSCC(70;0.22)			3	55					0	0	0.150653	0	0
PLCG2	5336	broad.mit.edu	37	16	81929432	81929432	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr16:81929432G>C	ENST00000359376.3	+	13	1307	c.1093G>C	c.(1093-1095)Gat>Cat	p.D365H		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	365	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GGACGGGCCCGATGGGAAGCC	0.607000													6	87					0	0	0.278610	0	0
UMODL1	89766	broad.mit.edu	37	21	43496222	43496222	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr21:43496222G>A	ENST00000408989.2	+	2	185	c.185G>A	c.(184-186)gGc>gAc	p.G62D	UMODL1_ENST00000400427.1_5'UTR|UMODL1_ENST00000408910.2_Missense_Mutation_p.G62D|UMODL1_ENST00000400424.2_5'UTR	NM_173568.3	NP_775839	Q5DID0	UROL1_HUMAN	uromodulin-like 1	62	EMI.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GTGTCCTGCGGCGGCTGGATC	0.607000													5	77					0	0	0.217242	0	0
DPY19L4	286148	broad.mit.edu	37	8	95800221	95800221	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr8:95800221G>A	ENST00000414645.2	+	18	2047	c.1948G>A	c.(1948-1950)Gag>Aag	p.E650K		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	650						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TATCTGCAATGAGGTGGGACC	0.343000													4	180					0	0	0.184627	0	0
EPN2	22905	broad.mit.edu	37	17	19186762	19186762	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:19186762G>C	ENST00000314728.5	+	3	814	c.330G>C	c.(328-330)caG>caC	p.Q110H	EPN2_ENST00000395618.3_Intron|EPN2_ENST00000575595.1_Intron|EPN2_ENST00000395620.2_Missense_Mutation_p.Q110H|EPN2_ENST00000347697.2_Missense_Mutation_p.Q110H|EPN2_ENST00000571254.1_Missense_Mutation_p.Q110H|EPN2_ENST00000395626.1_Missense_Mutation_p.Q110H	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	110	ENTH.				endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					AGGACTTCCAGTACATTGACC	0.567000													7	87					0	0	0.307466	0	0
B4GALT2	8704	broad.mit.edu	37	1	44450629	44450629	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:44450629C>T	ENST00000356836.6	+	4	1432	c.642C>T	c.(640-642)ttC>ttT	p.F214F	B4GALT2_ENST00000309519.7_Silent_p.F243F|B4GALT2_ENST00000372324.1_Silent_p.F214F|B4GALT2_ENST00000481924.1_3'UTR|B4GALT2_ENST00000434555.2_Silent_p.F148F	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	214					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	GCTTCATCTTCAGCGATGTGG	0.587000													5	108					0	0	0.217242	0	0
WDR75	84128	broad.mit.edu	37	2	190333285	190333285	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:190333285G>A	ENST00000314761.4	+	15	1773	c.1713G>A	c.(1711-1713)ctG>ctA	p.L571L		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	571						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			GGAATCTGCTGAGCTGTGCAT	0.388000													8	130					0	0	0.361761	0	0
LUC7L2	51631	broad.mit.edu	37	7	139026236	139026236	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr7:139026236C>G	ENST00000541515.3	+	1	131	c.106C>G	c.(106-108)Cgg>Ggg	p.R36G	C7orf55-LUC7L2_ENST00000541170.3_Intron|C7orf55_ENST00000481123.1_Intron|C7orf55_ENST00000297534.6_Missense_Mutation_p.R36G	NM_001244584.2	NP_001231513.1	Q9Y383	LC7L2_HUMAN	LUC7-like 2 (S. cerevisiae)	0							enzyme binding|metal ion binding			NS(2)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	16	Melanoma(164;0.242)					CGCGGCCTATCGGTACCTTGT	0.657000											OREG0018357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	76					0	0	0.278610	0	0
CYP2A7	1549	broad.mit.edu	37	19	41386406	41386406	+	Silent	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:41386406G>T	ENST00000301146.4	-	3	1012	c.471C>A	c.(469-471)atC>atA	p.I157I	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Silent_p.I106I	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	157						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.I157I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGATGGCCTCGATGAGGAAGC	0.662000													5	110					5.9392e-07	6.3469e-07	0.217242	1	0
ESPNP	284729	broad.mit.edu	37	1	17023143	17023143	+	RNA	SNP	C	C	T	rs559507	by1000genomes	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:17023143C>T	ENST00000492551.1	-	0	1720					NR_026567.1																						TGTGGGGCTCCGGACTGGTAA	0.692000													5	35					0	0	0.217242	0	0
ZNF407	55628	broad.mit.edu	37	18	72345657	72345657	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr18:72345657G>T	ENST00000299687.5	+	1	2682	c.2682G>T	c.(2680-2682)atG>atT	p.M894I	ZNF407_ENST00000582337.1_Missense_Mutation_p.M894I|ZNF407_ENST00000577538.1_Missense_Mutation_p.M894I|ZNF407_ENST00000309902.6_Missense_Mutation_p.M894I	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	894					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGGGAGATATGGAACGTCATT	0.398000													6	62					0.0581538	0.0587659	0.335167	1	0
DKKL1	27120	broad.mit.edu	37	19	49867919	49867919	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:49867919G>A	ENST00000221498.2	+	2	496	c.91G>A	c.(91-93)Gct>Act	p.A31T	DKKL1_ENST00000594268.1_Intron	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	31					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		CTCCGCTGCAGCTCCTATCCA	0.622000													8	89					0	0	0.361761	0	0
KANSL2	54934	broad.mit.edu	37	12	49054188	49054188	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr12:49054188C>T	ENST00000550347.1	-	7	1780	c.1737G>A	c.(1735-1737)gaG>gaA	p.E579E	KANSL2_ENST00000548701.1_5'UTR|KANSL2_ENST00000553086.1_Intron|KANSL2_ENST00000420613.2_Silent_p.E396E			Q9H9L4	CL041_HUMAN	KAT8 regulatory NSL complex subunit 2	396																	TGGGCTGAAGCTCAGCAGCAC	0.493000													5	35					0	0	0.217242	0	0
SMC2	10592	broad.mit.edu	37	9	106894344	106894344	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr9:106894344C>T	ENST00000286398.7	+	22	3334	c.3046C>T	c.(3046-3048)Ctt>Ttt	p.L1016F	SMC2_ENST00000374787.3_Missense_Mutation_p.L1016F|SMC2_ENST00000303219.8_Missense_Mutation_p.L1016F|SMC2_ENST00000374793.3_Missense_Mutation_p.L1016F	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1016					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						ATCCAAAATTCTTACAACTAT	0.308000													4	34					0	0	0.150653	0	0
NEFM	4741	broad.mit.edu	37	8	24776021	24776021	+	Missense_Mutation	SNP	G	G	A	rs150229714		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr8:24776021G>A	ENST00000221166.5	+	3	3435	c.2653G>A	c.(2653-2655)Gag>Aag	p.E885K	NEFM_ENST00000433454.2_Missense_Mutation_p.E509K|NEFM_ENST00000437366.2_Missense_Mutation_p.E846K|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.E667K			P07197	NFM_HUMAN	neurofilament, medium polypeptide	885	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AAAGGTTGAAGAGCATGAAGA	0.428000													7	140					0	0	0.335167	0	0
WBSCR17	64409	broad.mit.edu	37	7	70886076	70886076	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr7:70886076C>A	ENST00000333538.5	+	5	1581	c.947C>A	c.(946-948)cCt>cAt	p.P316H	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	316						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GCCGGAGACCCTTCTCTCCCC	0.602000													5	50					0.217242	0.217999	0.217242	1	0
SPAG9	9043	broad.mit.edu	37	17	49043730	49043730	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:49043730G>A	ENST00000262013.7	-	30	4077	c.3869C>T	c.(3868-3870)tCa>tTa	p.S1290L	SPAG9_ENST00000510283.1_Missense_Mutation_p.S1146L|SPAG9_ENST00000357122.4_Missense_Mutation_p.S1276L|SPAG9_ENST00000505279.1_Missense_Mutation_p.S1280L	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1290					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)			AAGAAGTTCTGATTCTCCACC	0.418000													12	160					0	0	0.479597	0	0
ZNF407	55628	broad.mit.edu	37	18	72343946	72343946	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr18:72343946G>A	ENST00000299687.5	+	1	971	c.971G>A	c.(970-972)gGa>gAa	p.G324E	ZNF407_ENST00000582337.1_Missense_Mutation_p.G324E|ZNF407_ENST00000577538.1_Missense_Mutation_p.G324E|ZNF407_ENST00000309902.6_Missense_Mutation_p.G324E	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CGAAATGTGGGAAGCACGTTT	0.343000													10	114					0	0	0.411799	0	0
ARID2	196528	broad.mit.edu	37	12	46230554	46230554	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr12:46230554C>T	ENST00000334344.6	+	8	975	c.803C>T	c.(802-804)tCt>tTt	p.S268F	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.S119F	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	268					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ATTTGGGAGTCTTTATTTCAT	0.348000			"""N, S, F"""		hepatocellular carcinoma								7	74					0	0	0.278610	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21036424	21036424	+	Missense_Mutation	SNP	T	T	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr12:21036424T>A	ENST00000381545.3	+	13	1789	c.1570T>A	c.(1570-1572)Tgc>Agc	p.C524S	LST3_ENST00000540229.1_Missense_Mutation_p.C524S|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.C524S|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.C524S|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	524					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CTTGGGTGAATGCCCAAGAGA	0.338000													5	79					0	0	0.248553	0	0
SYT4	6860	broad.mit.edu	37	18	40850420	40850420	+	Silent	SNP	G	G	A	rs117568424	byFrequency	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr18:40850420G>A	ENST00000255224.3	-	4	1532	c.1164C>T	c.(1162-1164)atC>atT	p.I388I	SYT4_ENST00000586678.1_5'UTR|SYT4_ENST00000590752.1_Silent_p.I370I	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	388	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CTAACTGCCCGATTACCTCAT	0.473000													6	145					0	0	0.217242	0	0
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:107049631C>T	ENST00000409886.3	-	16	2403	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	RGPD3_ENST00000304514.7_Silent_p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					intracellular transport		binding	p.A772A(4)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373000													5	259					0	0	0.184627	0	0
SRC	6714	broad.mit.edu	37	20	36022668	36022668	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr20:36022668G>A	ENST00000373578.2	+	7	890	c.541G>A	c.(541-543)Gag>Aag	p.E181K	SRC_ENST00000373558.2_Missense_Mutation_p.E187K|SRC_ENST00000445403.1_Missense_Mutation_p.E181K|SRC_ENST00000373567.2_Missense_Mutation_p.E181K|SRC_ENST00000358208.4_Missense_Mutation_p.E181K|SRC_ENST00000360723.4_Missense_Mutation_p.E187K	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog	181	SH2.				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	GCGAGAAAGTGAGACCACGAA	0.542000													8	85					0	0	0.335167	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553379	140553379	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr5:140553379C>T	ENST00000231137.3	+	1	1137	c.963C>T	c.(961-963)gcC>gcT	p.A321A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		321	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTATTCAGGCCAAAGACGGCG	0.428000													6	78					0	0	0.278610	0	0
TRIM2	23321	broad.mit.edu	37	4	154237060	154237060	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr4:154237060C>T	ENST00000338700.5	+	8	1756	c.1691C>T	c.(1690-1692)aCa>aTa	p.T564I	TRIM2_ENST00000437508.2_Missense_Mutation_p.T537I	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	537						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CAGCGGCCCACAGGAGTGGCT	0.448000													7	89					0	0	0.335167	0	0
TEC	7006	broad.mit.edu	37	4	48169865	48169865	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr4:48169865C>T	ENST00000381501.3	-	7	758	c.601G>A	c.(601-603)Gag>Aag	p.E201K		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	201	SH3.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TGGCCTCTCTCTAATCTGAGA	0.403000													10	141					0	0	0.361761	0	0
PPFIA3	8541	broad.mit.edu	37	19	49643260	49643260	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:49643260G>A	ENST00000334186.4	+	18	2632	c.2283G>A	c.(2281-2283)aaG>aaA	p.K761K	PPFIA3_ENST00000602351.1_Silent_p.K761K	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	761						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CCAAGAAGAAGAGCATCAAGT	0.557000													8	161					0	0	0.307466	0	0
GAK	2580	broad.mit.edu	37	4	844870	844870	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr4:844870G>A	ENST00000314167.4	-	26	3621	c.3511C>T	c.(3511-3513)Caa>Taa	p.Q1171*	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Nonsense_Mutation_p.Q1092*	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1171					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TTTGGCTTTTGAGCTAGAAAA	0.468000													5	64					0	0	0.184627	0	0
WDHD1	11169	broad.mit.edu	37	14	55429799	55429799	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr14:55429799G>C	ENST00000360586.3	-	19	2467	c.2402C>G	c.(2401-2403)tCt>tGt	p.S801C	WDHD1_ENST00000420358.2_Missense_Mutation_p.S678C|WDHD1_ENST00000421192.1_Missense_Mutation_p.S678C|WDHD1_ENST00000359167.4_Missense_Mutation_p.S319C	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	801						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CCGAGAGCGAGAAGCATATTT	0.418000													6	73					0	0	0.248553	0	0
TRIO	7204	broad.mit.edu	37	5	14399069	14399069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr5:14399069C>T	ENST00000344204.4	+	30	4528	c.4504C>T	c.(4504-4506)Cga>Tga	p.R1502*	TRIO_ENST00000509967.2_Nonsense_Mutation_p.R1453*|TRIO_ENST00000537187.1_Nonsense_Mutation_p.R1502*	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1502	PH 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AACCTTAATTCGAAAGGGTCG	0.398000													11	137					0	0	0.435327	0	0
DAB2	1601	broad.mit.edu	37	5	39392476	39392476	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr5:39392476C>G	ENST00000545653.1	-	4	851	c.321G>C	c.(319-321)gaG>gaC	p.E107D	DAB2_ENST00000320816.6_Missense_Mutation_p.E107D|DAB2_ENST00000339788.6_Missense_Mutation_p.E107D|DAB2_ENST00000509337.1_Missense_Mutation_p.E107D|DAB2_ENST00000512525.1_5'UTR	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	107	PID.				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CCCCAGTTTTCTCATCAATTA	0.458000													3	48					0	0	0.150653	0	0
SPDYE4	388333	broad.mit.edu	37	17	8659711	8659711	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:8659711C>T	ENST00000328794.6	-	3	560	c.384G>A	c.(382-384)ctG>ctA	p.L128L		NM_001128076.1	NP_001121548.1	A6NLX3	SPDE4_HUMAN	speedy/RINGO cell cycle regulator family member E4	128										breast(1)|endometrium(2)|kidney(1)	4						CTGACACCCTCAGGTCTTTGT	0.527000													14	156					0	0	0.500413	0	0
CALB2	794	broad.mit.edu	37	16	71417914	71417914	+	Silent	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr16:71417914C>G	ENST00000302628.4	+	7	596	c.519C>G	c.(517-519)ctC>ctG	p.L173L	CALB2_ENST00000349553.5_Silent_p.L173L	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	173	EF-hand 4.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				AATTGGGCCTCTCAGAGATGT	0.527000													5	133					0	0	0.248553	0	0
FRMPD4	9758	broad.mit.edu	37	X	12724949	12724949	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chrX:12724949C>G	ENST00000380682.1	+	12	1708	c.1202C>G	c.(1201-1203)tCt>tGt	p.S401C		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	401	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCTCAGCTCTCTGCACTACAA	0.428000													10	138					0	0	0.500413	0	0
ZBTB11	27107	broad.mit.edu	37	3	101373573	101373573	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:101373573C>T	ENST00000312938.4	-	8	2864	c.2284G>A	c.(2284-2286)Gag>Aag	p.E762K		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	762					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CCTCGAACCTCAGGCTTTGGT	0.368000													8	101					0	0	0.479597	0	0
GDI2	2665	broad.mit.edu	37	10	5808246	5808246	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr10:5808246G>A	ENST00000380191.4	-	10	1439	c.1149C>T	c.(1147-1149)atC>atT	p.I383I	GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380132.4_Silent_p.I387I|GDI2_ENST00000380181.3_Silent_p.I338I	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	383					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						GGAGGTCACTGATGCTAACAA	0.502000													5	93					0	0	0.217242	0	0
OR1D2	4991	broad.mit.edu	37	17	2995465	2995465	+	Missense_Mutation	SNP	T	T	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:2995465T>A	ENST00000331459.1	-	1	825	c.826A>T	c.(826-828)Atg>Ttg	p.M276L		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	276					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						ACAGCATACATCACTGTGGCT	0.483000													9	113					0	0	0.387290	0	0
ADSL	158	broad.mit.edu	37	22	40762447	40762447	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr22:40762447G>C	ENST00000216194.7	+	13	1432	c.1376G>C	c.(1375-1377)aGa>aCa	p.R459T	ADSL_ENST00000342312.6_Missense_Mutation_p.R400T|ADSL_ENST00000454266.2_Missense_Mutation_p.R473T	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	459					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						CAGGTGCAGAGATTCTTAGAA	0.383000													3	55					0	0	0.115264	0	0
CLCN3P1	100419056	broad.mit.edu	37	9	15017463	15017463	+	RNA	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr9:15017463G>A	ENST00000609203.1	-	0	764																											GTTTGCTAATGATGAATGTGA	0.423000													5	60					0	0	0.217242	0	0
NEK9	91754	broad.mit.edu	37	14	75590902	75590902	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr14:75590902C>T	ENST00000238616.5	-	2	402	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	82	Protein kinase.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		AAATCGACTTCCTTCCACACA	0.473000													6	60					0	0	0.248553	0	0
NUP35	129401	broad.mit.edu	37	2	183993048	183993048	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:183993048C>T	ENST00000295119.4	+	2	177	c.74C>T	c.(73-75)tCt>tTt	p.S25F	NUP35_ENST00000497330.1_3'UTR|NUP35_ENST00000409798.1_Missense_Mutation_p.S8F|NUP35_ENST00000541912.1_5'UTR	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	25					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						TCACCCACATCTCCAAAGCCA	0.418000													5	55					0	0	0.184627	0	0
TMOD4	29765	broad.mit.edu	37	1	151147246	151147246	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:151147246G>T	ENST00000416280.2	-	2	205	c.106C>A	c.(106-108)Cag>Aag	p.Q36K				Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	77					muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCATCTCCTGTAGTTCGCAG	0.532000													4	46					0.00024832	0.000257252	0.150653	1	0
C10orf111	221060	broad.mit.edu	37	10	15138479	15138479	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr10:15138479C>G	ENST00000378207.3	-	2	618	c.345G>C	c.(343-345)atG>atC	p.M115I		NM_153244.1	NP_694976.1	Q8N326	CJ111_HUMAN	chromosome 10 open reading frame 111	115						integral to membrane				lung(5)|upper_aerodigestive_tract(1)	6						GGAGGAGGCTCATTAGGTCAG	0.488000													4	65					0	0	0.184627	0	0
RASAL2	9462	broad.mit.edu	37	1	178423706	178423706	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:178423706G>C	ENST00000448150.3	+	12	2898	c.2080G>C	c.(2080-2082)Gat>Cat	p.D694H	RASAL2_ENST00000367649.3_Missense_Mutation_p.D712H|RASAL2_ENST00000462775.1_Missense_Mutation_p.D564H	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	564					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CCCAGGCTTTGATGGTTACAT	0.423000													8	89					0	0	0.278610	0	0
RAD51B	5890	broad.mit.edu	37	14	68758652	68758652	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr14:68758652C>A	ENST00000487270.1	+	8	856	c.808C>A	c.(808-810)Cag>Aag	p.Q270K	RAD51B_ENST00000469165.2_3'UTR|RAD51B_ENST00000487861.1_Missense_Mutation_p.Q270K|RAD51B_ENST00000471583.1_Missense_Mutation_p.Q270K|RAD51B_ENST00000488612.1_Missense_Mutation_p.Q270K|RAD51B_ENST00000390683.3_Missense_Mutation_p.Q270K	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	270					blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						CCTGGCTTCTCAGGCAGACCT	0.517000								Direct reversal of damage					4	110					0.184627	0.185594	0.184627	1	0
INPP5B	3633	broad.mit.edu	37	1	38397639	38397639	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:38397639G>A	ENST00000373023.2	-	7	571	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	INPP5B_ENST00000373026.1_Missense_Mutation_p.R160C|INPP5B_ENST00000373024.3_Missense_Mutation_p.R160C|INPP5B_ENST00000373021.1_Missense_Mutation_p.R160C	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	160					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTACAACCGCGCGGCGTTGGC	0.612000													5	101					0	0	0.184627	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180721	142180721	+	RNA	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr7:142180721C>T	ENST00000390368.2	-	0	203																											ATTCATGGTTCATATCCTGGG	0.517000													27	808					0	0	0.750413	0	0
ZFP30	22835	broad.mit.edu	37	19	38126715	38126715	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:38126715C>T	ENST00000351218.2	-	6	1284	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000514101.2_Missense_Mutation_p.E243K|ZFP30_ENST00000392144.1_Missense_Mutation_p.E243K	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTTTACATTCATACGGCTTC	0.388000													19	52					0	0	0.592651	0	0
NAPEPLD	222236	broad.mit.edu	37	7	102743890	102743890	+	Missense_Mutation	SNP	C	C	T	rs145478769		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr7:102743890C>T	ENST00000417955.1	-	5	1322	c.1168G>A	c.(1168-1170)Gat>Aat	p.D390N	NAPEPLD_ENST00000427257.1_Missense_Mutation_p.D390N|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.D390N|NAPEPLD_ENST00000465647.1_Missense_Mutation_p.D390N|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.D463N			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	390					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AAGTTTTCATCATCATTATTT	0.328000													4	60					0	0	0.217242	0	0
CAPN2	824	broad.mit.edu	37	1	223959545	223959545	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:223959545C>T	ENST00000295006.5	+	19	2247	c.1938C>T	c.(1936-1938)atC>atT	p.I646I	CAPN2_ENST00000433674.2_Silent_p.I568I|CAPN2_ENST00000474026.1_3'UTR	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	646	Domain IV.				proteolysis	cytoplasm|plasma membrane		p.I646I(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		ACCAAGTCATCGTTGCTCGGT	0.428000													16	221					0	0	0.520397	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133661560	133661560	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:133661560C>T	ENST00000310926.4	-	11	1787	c.1514G>A	c.(1513-1515)gGa>gAa	p.G505E	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.G429E	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	505					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						AGGGCACGATCCTGTCTTTGC	0.532000													22	122					0	0	0.729181	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915786	39915786	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:39915786C>T	ENST00000425673.1	+	17	4251	c.3926C>T	c.(3925-3927)aCg>aTg	p.T1309M	PLEKHG2_ENST00000409794.3_Missense_Mutation_p.T1338M|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Intron			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1338					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TATGCCACGACGGTTAACATC	0.692000													4	40					0	0	0.184627	0	0
PIP4K2A	5305	broad.mit.edu	37	10	22830755	22830755	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr10:22830755G>C	ENST00000376573.4	-	8	1242	c.1014C>G	c.(1012-1014)gtC>gtG	p.V338V	PIP4K2A_ENST00000323883.7_Silent_p.V198V|PIP4K2A_ENST00000545335.1_Silent_p.V279V	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	338	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						TAATTCCATAGACGTCGATGT	0.517000													6	88					0	0	0.307466	0	0
CRLF1	9244	broad.mit.edu	37	19	18709383	18709383	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:18709383C>T	ENST00000392386.3	-	4	749	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	186	Fibronectin type-III 1.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GTGTGGTACTCCTCACATGTG	0.632000													20	150					0	0	0.608945	0	0
POT1	25913	broad.mit.edu	37	7	124503433	124503433	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr7:124503433C>T	ENST00000357628.3	-	8	1115	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	POT1_ENST00000393329.1_Missense_Mutation_p.E42K	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	173					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CCGTCCACTTCTGCTTTGCCC	0.388000													14	96					0	0	0.539581	0	0
OR5H2	79310	broad.mit.edu	37	3	98002337	98002337	+	Silent	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:98002337A>G	ENST00000355273.2	+	1	606	c.606A>G	c.(604-606)ctA>ctG	p.L202L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TTAATTTTCTAATGGTTTTTA	0.308000													13	42					0	0	0.479597	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29857477	29857477	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:29857477C>T	ENST00000325874.8	+	14	2016	c.1787C>T	c.(1786-1788)tCg>tTg	p.S596L	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.S494L	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	596	FIP-RBD.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GACACCGCCTCGCGCGATGAG	0.582000													11	146					0	0	0.435327	0	0
ZNF91	7644	broad.mit.edu	37	19	23544867	23544867	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:23544867T>C	ENST00000300619.7	-	4	1119	c.914A>G	c.(913-915)cAt>cGt	p.H305R	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	305						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAATGGCTAAAAGC	0.413000													5	104					0	0	0.217242	0	0
ARSI	340075	broad.mit.edu	37	5	149677553	149677553	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr5:149677553G>A	ENST00000328668.7	-	2	1513	c.934C>T	c.(934-936)Cga>Tga	p.R312*		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	312						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)			TTGCGTCCTCGGAGCGGCCAG	0.592000													9	78					0	0	0.307466	0	0
CD1E	913	broad.mit.edu	37	1	158325252	158325252	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:158325252A>G	ENST00000444681.2	+	2	514	c.221A>G	c.(220-222)aAt>aGt	p.N74S	CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.N173S|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.N173S|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.N173S|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.N173S|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.N171S|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368154.1_Intron	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	173					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					AAAGTGCTCAATCGCTACCTA	0.498000													5	72					0	0	0.217242	0	0
SACS	26278	broad.mit.edu	37	13	23905453	23905453	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr13:23905453C>T	ENST00000382298.3	-	10	13150	c.12562G>A	c.(12562-12564)Gct>Act	p.A4188T	SACS_ENST00000382292.3_Missense_Mutation_p.A4188T|SACS_ENST00000402364.1_Missense_Mutation_p.A3438T	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4188					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCACCTTCAGCATCAACAAGG	0.393000													15	122					0	0	0.479597	0	0
CD180	4064	broad.mit.edu	37	5	66479570	66479570	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr5:66479570C>G	ENST00000256447.4	-	3	1258	c.1101G>C	c.(1099-1101)gaG>gaC	p.E367D		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	367					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TTCCTAGTTTCTCCAAGCAGC	0.453000													14	123					0	0	0.500413	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284000													3	55					0	0	0.115264	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110487424	110487424	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr8:110487424C>T	ENST00000378402.5	+	51	8787	c.8683C>T	c.(8683-8685)Cac>Tac	p.H2895Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2895					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAATGCAAATCACATTAACTG	0.338000										HNSCC(38;0.096)			23	35					0	0	0.681144	0	0
NAIP	4671	broad.mit.edu	37	5	70308245	70308245	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr5:70308245G>A	ENST00000517649.1	-	4	788	c.498C>T	c.(496-498)ttC>ttT	p.F166F	NAIP_ENST00000503719.2_Intron|NAIP_ENST00000508426.2_Silent_p.F166F|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000194097.4_Silent_p.F166F	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	166					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GCCAGTTCCTGAAGGACGCAA	0.458000													4	73					0	0	0.184627	0	0
NEB	4703	broad.mit.edu	37	2	152553184	152553184	+	Silent	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:152553184T>C	ENST00000427231.2	-	17	1738	c.1536A>G	c.(1534-1536)ctA>ctG	p.L512L	NEB_ENST00000409198.1_Silent_p.L512L|NEB_ENST00000603639.1_Silent_p.L512L|NEB_ENST00000397345.3_Silent_p.L512L|NEB_ENST00000172853.10_Silent_p.L512L|NEB_ENST00000604864.1_Silent_p.L512L	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	512					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTTGGGCTTGTAGCAGAACAG	0.403000													5	59					0	0	0.217242	0	0
ULK2	9706	broad.mit.edu	37	17	19689285	19689285	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:19689285C>G	ENST00000395544.4	-	21	2715	c.2216G>C	c.(2215-2217)tGt>tCt	p.C739S	ULK2_ENST00000361658.2_Missense_Mutation_p.C739S	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	739					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					CATGTGGGTACAAGTGGGGGC	0.483000													7	62					0	0	0.248553	0	0
TMEM57	55219	broad.mit.edu	37	1	25824881	25824881	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:25824881A>G	ENST00000374343.4	+	11	2098	c.1919A>G	c.(1918-1920)tAc>tGc	p.Y640C	TMEM57_ENST00000399766.3_Missense_Mutation_p.Y413C|TMEM57_ENST00000399763.3_Missense_Mutation_p.Y282C	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	640						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCCCCACTACTCTTCCAAA	0.542000													16	147					0	0	0.557998	0	0
LRRC7	57554	broad.mit.edu	37	1	70503871	70503871	+	Silent	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:70503871T>C	ENST00000310961.5	+	22	2683	c.2265T>C	c.(2263-2265)aaT>aaC	p.N755N	LRRC7_ENST00000415775.2_Silent_p.N34N|LRRC7_ENST00000035383.5_Silent_p.N750N			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	750						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCCCAGGCAATATACCACAGC	0.502000													37	189					0	0	0.834066	0	0
STAC	6769	broad.mit.edu	37	3	36524568	36524568	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:36524568G>A	ENST00000273183.3	+	3	773	c.473G>A	c.(472-474)cGg>cAg	p.R158Q	STAC_ENST00000457375.2_Intron|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	158					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GCACCCCAGCGGTGCATGGGC	0.577000													3	77					0	0	0.150653	0	0
LTBP3	4054	broad.mit.edu	37	11	65318916	65318916	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr11:65318916C>T	ENST00000301873.5	-	10	1846	c.1578G>A	c.(1576-1578)caG>caA	p.Q526Q	LTBP3_ENST00000322147.4_Silent_p.Q526Q|LTBP3_ENST00000536982.1_Silent_p.Q152Q	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	526						extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TTGGGTGGCTCTGCTGCACTG	0.652000													5	55					0	0	0.217242	0	0
LGR5	8549	broad.mit.edu	37	12	71960693	71960693	+	Splice_Site	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr12:71960693G>A	ENST00000266674.5	+	11	1381		c.e11+1		LGR5_ENST00000540815.2_Splice_Site|LGR5_ENST00000536515.1_Splice_Site			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5							integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TCCAAGTGCTGTGCGTATCAG	0.393000													6	89					0	0	0.248553	0	0
NCOA6	23054	broad.mit.edu	37	20	33356291	33356291	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr20:33356291C>A	ENST00000374796.2	-	6	3060	c.490G>T	c.(490-492)Gga>Tga	p.G164*	NCOA6_ENST00000359003.2_Nonsense_Mutation_p.G164*			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	164	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ATAGGAAATCCCGCCTCCATC	0.458000													14	125					3.52763e-06	3.75585e-06	0.520397	1	0
MAPRE3	22924	broad.mit.edu	37	2	27248831	27248831	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:27248831C>G	ENST00000233121.2	+	6	906	c.708C>G	c.(706-708)atC>atG	p.I236M	MAPRE3_ENST00000402218.1_Missense_Mutation_p.I221M|MAPRE3_ENST00000405074.3_Missense_Mutation_p.I221M			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	236	APC-binding.|DCTN1-binding.|EB1 C-terminal.				cell division|mitosis|positive regulation of transcription, DNA-dependent	cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm	microtubule binding|protein binding|small GTPase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGAGCTCATCTGCCAGGAGC	0.537000													12	90					0	0	0.479597	0	0
ESRP1	54845	broad.mit.edu	37	8	95658419	95658419	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr8:95658419C>A	ENST00000433389.2	+	4	589	c.399C>A	c.(397-399)ttC>ttA	p.F133L	ESRP1_ENST00000454170.2_Missense_Mutation_p.F133L|ESRP1_ENST00000423620.2_Missense_Mutation_p.F133L|ESRP1_ENST00000358397.5_Missense_Mutation_p.F133L	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	133					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CTGAATGCTTCTATTCCTTTT	0.363000													7	119					0.000157383	0.000164226	0.278610	1	0
CADPS2	93664	broad.mit.edu	37	7	122130198	122130198	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr7:122130198G>A	ENST00000334010.7	-	11	2210	c.1789C>T	c.(1789-1791)Cct>Tct	p.P597S	CADPS2_ENST00000412584.2_Missense_Mutation_p.P597S|CADPS2_ENST00000313070.7_Missense_Mutation_p.P597S|CADPS2_ENST00000449022.2_Missense_Mutation_p.P597S	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	597					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TGAATTGCAGGAACTGGTTTA	0.368000													5	83					0	0	0.217242	0	0
CCT6B	10693	broad.mit.edu	37	17	33285634	33285634	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:33285634G>A	ENST00000314144.5	-	3	396	c.281C>T	c.(280-282)tCa>tTa	p.S94L	CCT6B_ENST00000436961.3_Intron|CCT6B_ENST00000421975.3_Missense_Mutation_p.S94L	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	94				S -> T (in Ref. 1; BAA11347).	chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TAGAACATTTGAAGTAGTACC	0.353000													4	62					0	0	0.184627	0	0
VIP	7432	broad.mit.edu	37	6	153073417	153073417	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr6:153073417C>T	ENST00000367244.3	+	2	277	c.105C>T	c.(103-105)ctC>ctT	p.L35L	VIP_ENST00000367243.3_Silent_p.L35L	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	35					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		CTTCTGCTCTCAGGTAAGTTC	0.423000													6	41					0	0	0.217242	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117431578	117431578	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr7:117431578G>A	ENST00000160373.3	-	4	1763	c.1672C>T	c.(1672-1674)Cca>Tca	p.P558S		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	558	Pro-rich.									breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGGTGTGGTGGAGAAGGAGTT	0.502000													9	140					0	0	0.361761	0	0
SBSN	374897	broad.mit.edu	37	19	36018407	36018407	+	Silent	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:36018407T>C	ENST00000452271.2	-	1	805	c.777A>G	c.(775-777)agA>agG	p.R259R	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	132						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTGGCCAAATCTCCCTGCCT	0.627000													3	11					0	0	0.150653	0	0
GZMA	3001	broad.mit.edu	37	5	54404209	54404209	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr5:54404209G>A	ENST00000274306.6	+	4	649	c.614G>A	c.(613-615)aGa>aAa	p.R205K		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	205	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CGAGGTGGAAGAGACTCGTGC	0.383000													8	89					0	0	0.361761	0	0
JUP	3728	broad.mit.edu	37	17	39919274	39919274	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:39919274C>T	ENST00000393931.3	-	8	1576	c.1458G>A	c.(1456-1458)gtG>gtA	p.V486V	JUP_ENST00000393930.1_Silent_p.V486V|JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Silent_p.V486V	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	486					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TGAGCAGCTTCACGATGGCTG	0.607000													4	105					0	0	0.248553	0	0
GC	2638	broad.mit.edu	37	4	72634130	72634130	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr4:72634130C>G	ENST00000273951.8	-	3	492	c.149G>C	c.(148-150)aGa>aCa	p.R50T	GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Missense_Mutation_p.R69T|GC_ENST00000513476.1_Missense_Mutation_p.R50T	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	50	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)	GGGAAATTTTCTACTGTACAG	0.468000													4	59					0	0	0.184627	0	0
GAPVD1	26130	broad.mit.edu	37	9	128088742	128088742	+	Missense_Mutation	SNP	C	C	T	rs144122272	by1000genomes	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr9:128088742C>T	ENST00000470056.1	+	10	2066	c.1906C>T	c.(1906-1908)Cgt>Tgt	p.R636C	GAPVD1_ENST00000312123.9_Missense_Mutation_p.R615C|GAPVD1_ENST00000394105.2_Missense_Mutation_p.R636C|GAPVD1_ENST00000394083.2_Missense_Mutation_p.R615C|GAPVD1_ENST00000265956.4_Missense_Mutation_p.R636C|GAPVD1_ENST00000297933.6_Missense_Mutation_p.R636C|GAPVD1_ENST00000394104.2_Missense_Mutation_p.R636C|GAPVD1_ENST00000495955.1_Missense_Mutation_p.R636C			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	636					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GTTTGAAATTCGTGACATGAT	0.368000													5	89					0	0	0.217242	0	0
BOD1L1	259282	broad.mit.edu	37	4	13605643	13605643	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr4:13605643C>T	ENST00000040738.5	-	10	3016	c.2881G>A	c.(2881-2883)Gaa>Aaa	p.E961K		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	961	Lys-rich.						DNA binding										GGTTTGTCTTCAACTTTAGAC	0.398000													9	143					0	0	0.335167	0	0
HADH	3033	broad.mit.edu	37	4	108911132	108911132	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr4:108911132C>T	ENST00000403312.1	+	1	263	c.221C>T	c.(220-222)tCg>tTg	p.S74L	HADH_ENST00000309522.3_Missense_Mutation_p.S15L|HADH_ENST00000603302.1_Missense_Mutation_p.S15L|HADH_ENST00000505878.1_5'UTR	NM_001184705.2	NP_001171634.2	Q16836	HCDH_HUMAN	hydroxyacyl-CoA dehydrogenase	15					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	GTGTCCTCCTCGTCCACCGCC	0.687000													3	37					0	0	0.115264	0	0
SSX3	10214	broad.mit.edu	37	X	48214125	48214125	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chrX:48214125G>C	ENST00000298396.2	-	3	178	c.126C>G	c.(124-126)gtC>gtG	p.V42V	SSX3_ENST00000376893.3_Silent_p.V42V	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	42	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						TTTTCTCCGAGACTTTCATCT	0.398000													9	127					0	0	0.335167	0	0
KIF13B	23303	broad.mit.edu	37	8	28974498	28974498	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr8:28974498G>A	ENST00000524189.1	-	31	3725	c.3687C>T	c.(3685-3687)tcC>tcT	p.S1229S	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1229					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CATGCACCGCGGAGTCCCAGG	0.577000													5	101					0	0	0.217242	0	0
OR6K3	391114	broad.mit.edu	37	1	158687408	158687408	+	Silent	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:158687408C>A	ENST00000368146.1	-	1	545	c.546G>T	c.(544-546)ctG>ctT	p.L182L	OR6K3_ENST00000368145.1_Silent_p.L166L			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CACAGAAAGGCAGTGTGGAAA	0.512000													7	114					0.00198382	0.00202963	0.248553	1	0
ZNF347	84671	broad.mit.edu	37	19	53644299	53644299	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:53644299C>T	ENST00000452676.2	-	5	2211	c.1785G>A	c.(1783-1785)gaG>gaA	p.E595E	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Silent_p.E594E|ZNF347_ENST00000601469.2_Silent_p.E595E	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	594					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TATAAGGTTTCTCTCCAGTAT	0.388000													17	151					0	0	0.592651	0	0
NAV2	89797	broad.mit.edu	37	11	20113769	20113769	+	Silent	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr11:20113769G>T	ENST00000396085.1	+	29	6040	c.5679G>T	c.(5677-5679)ctG>ctT	p.L1893L	NAV2_ENST00000540292.1_Silent_p.L1880L|NAV2_ENST00000311043.8_Silent_p.L954L|NAV2_ENST00000349880.4_Silent_p.L1890L|NAV2_ENST00000396087.3_Silent_p.L1949L|NAV2_ENST00000533917.1_Silent_p.L954L|NAV2_ENST00000527559.2_Silent_p.L1878L|NAV2_ENST00000360655.4_Silent_p.L1826L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1949						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						TAGAGAAGCTGAAAGCTGAGA	0.498000													6	91					0.00198382	0.00202963	0.248553	1	0
GTPBP10	85865	broad.mit.edu	37	7	90014312	90014312	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr7:90014312G>A	ENST00000222511.6	+	10	1074	c.1008G>A	c.(1006-1008)aaG>aaA	p.K336K	GTPBP10_ENST00000257659.8_Silent_p.K257K	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	336					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						AAGAATTAAAGAATTGTATAA	0.358000													3	72					0	0	0.150653	0	0
SMAD6	4091	broad.mit.edu	37	15	67073574	67073574	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr15:67073574G>A	ENST00000288840.5	+	4	2223	c.1192G>A	c.(1192-1194)Gac>Aac	p.D398N	SMAD6_ENST00000338426.4_Missense_Mutation_p.D137N	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	398	MH2.				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						CAAGGAGCCCGACGGCGTGTG	0.711000													5	36					0	0	0.278610	0	0
HCFC1	3054	broad.mit.edu	37	X	153224215	153224215	+	Silent	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chrX:153224215C>A	ENST00000310441.7	-	10	2574	c.1608G>T	c.(1606-1608)gtG>gtT	p.V536V	HCFC1_ENST00000369984.4_Silent_p.V536V|HCFC1_ENST00000354233.3_Silent_p.V467V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	536					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TACTGCCAATCACCTGCAGCA	0.677000													3	23					0.00909568	0.00927276	0.150653	1	0
KIF1B	23095	broad.mit.edu	37	1	10357056	10357056	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:10357056G>A	ENST00000377086.1	+	21	2165	c.1963G>A	c.(1963-1965)Gag>Aag	p.E655K	KIF1B_ENST00000263934.6_Missense_Mutation_p.E609K|KIF1B_ENST00000377083.1_Missense_Mutation_p.E609K|KIF1B_ENST00000377081.1_Missense_Mutation_p.E655K|KIF1B_ENST00000377093.4_Missense_Mutation_p.E609K			O60333	KIF1B_HUMAN	kinesin family member 1B	655					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GACCCCCTCTGAGCCTGTGGA	0.483000													7	54					0	0	0.307466	0	0
DNAH2	146754	broad.mit.edu	37	17	7674653	7674653	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:7674653C>T	ENST00000572933.1	+	28	5828	c.4368C>T	c.(4366-4368)atC>atT	p.I1456I	DNAH2_ENST00000389173.2_Silent_p.I1456I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1456	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTCAGAATATCTTCCTAGGAG	0.512000													20	152					0	0	0.706142	0	0
MTF2	22823	broad.mit.edu	37	1	93602500	93602500	+	Silent	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:93602500A>G	ENST00000370298.4	+	15	1987	c.1698A>G	c.(1696-1698)gaA>gaG	p.E566E	MTF2_ENST00000545708.1_Silent_p.E464E|MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000540243.1_Silent_p.E464E|MTF2_ENST00000370303.4_Silent_p.E509E	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	566						nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		CATGTGGCGAAAAATACCGAG	0.433000													3	117					0	0	0.115264	0	0
NAV2	89797	broad.mit.edu	37	11	20113776	20113776	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr11:20113776G>A	ENST00000396085.1	+	29	6047	c.5686G>A	c.(5686-5688)Gag>Aag	p.E1896K	NAV2_ENST00000540292.1_Missense_Mutation_p.E1883K|NAV2_ENST00000311043.8_Missense_Mutation_p.E957K|NAV2_ENST00000349880.4_Missense_Mutation_p.E1893K|NAV2_ENST00000396087.3_Missense_Mutation_p.E1952K|NAV2_ENST00000533917.1_Missense_Mutation_p.E957K|NAV2_ENST00000527559.2_Missense_Mutation_p.E1881K|NAV2_ENST00000360655.4_Missense_Mutation_p.E1829K	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1952						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						GCTGAAAGCTGAGAATGATCG	0.507000													6	97					0	0	0.278610	0	0
P4HTM	54681	broad.mit.edu	37	3	49043188	49043188	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:49043188C>T	ENST00000343546.4	+	7	1603	c.1235C>T	c.(1234-1236)tCa>tTa	p.S412L	P4HTM_ENST00000383729.4_Intron	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	349	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	GGGACCTGCTCAGTGCCCCCC	0.562000													5	106					0	0	0.217242	0	0
PARP4	143	broad.mit.edu	37	13	25008866	25008866	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr13:25008866C>T	ENST00000381989.3	-	31	4518	c.4413G>A	c.(4411-4413)ttG>ttA	p.L1471L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1471					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GGTTGGCAGTCAAAGAGGCTG	0.493000													8	18					0	0	0.307466	0	0
MYO1G	64005	broad.mit.edu	37	7	45016619	45016619	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr7:45016619C>T	ENST00000258787.7	-	2	283	c.147G>A	c.(145-147)gtG>gtA	p.V49V		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	49	Myosin head-like.		V -> M (in allele HA-2M; the HA-2V allele constitute the HA-2 epitope while HA-2M is not recognized by HA-2 cytotoxic T lymphocytes).			myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GGTAGGGGTTCACGGACACCA	0.627000													13	94					0	0	0.500413	0	0
KIRREL	55243	broad.mit.edu	37	1	158063421	158063421	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:158063421G>C	ENST00000368172.1	+	9	1042	c.1030G>C	c.(1030-1032)Gac>Cac	p.D344H	KIRREL_ENST00000359209.6_Missense_Mutation_p.D530H|KIRREL_ENST00000368173.3_Missense_Mutation_p.D546H|KIRREL_ENST00000416935.2_Missense_Mutation_p.D430H|KIRREL_ENST00000360089.4_Missense_Mutation_p.D366H|KIRREL_ENST00000392272.2_Missense_Mutation_p.D427H			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	530	Ig-like C2-type 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					AGGTCGCAAAGACGTGACCCT	0.607000													3	45					0	0	0.150653	0	0
DNAH17	8632	broad.mit.edu	37	17	76548800	76548800	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:76548800T>C	ENST00000389840.5	-	15	2390	c.2266A>G	c.(2266-2268)Aca>Gca	p.T756A	DNAH17_ENST00000585328.1_Missense_Mutation_p.T756A					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGAATAATGTCGTTTCAGCG	0.428000													11	279					0	0	0.387290	0	0
BNIPL	149428	broad.mit.edu	37	1	151015865	151015865	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:151015865G>A	ENST00000295294.7	+	6	1037	c.428G>A	c.(427-429)aGa>aAa	p.R143K	BNIPL_ENST00000368931.3_Missense_Mutation_p.R225K	NM_001159642.1	NP_001153114.1	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	225					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TATCTACCCAGAAGCAGCATC	0.463000													25	432					0	0	0.729181	0	0
SRCAP	10847	broad.mit.edu	37	16	30735318	30735318	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr16:30735318C>G	ENST00000262518.4	+	25	4958	c.4573C>G	c.(4573-4575)Ctg>Gtg	p.L1525V	SRCAP_ENST00000395059.2_Missense_Mutation_p.L1463V|SRCAP_ENST00000344771.4_Missense_Mutation_p.L1367V	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1525	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGGTCACCCTCTGTTGTTGGC	0.587000													5	41					0	0	0.217242	0	0
TTN	7273	broad.mit.edu	37	2	179575936	179575936	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:179575936C>G	ENST00000589042.1	-	97	28251	c.28027G>C	c.(28027-28029)Gac>Cac	p.D9343H	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D8099H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D9026H|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9026	Ig-like 76.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGGGCTGTCTTTCAATGGC	0.423000													17	227					0	0	0.654019	0	0
KIAA1210	57481	broad.mit.edu	37	X	118284333	118284333	+	Silent	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chrX:118284333T>C	ENST00000402510.2	-	1	209	c.210A>G	c.(208-210)gcA>gcG	p.A70A		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	70										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GGTCAGTCACTGCAGCTGGGC	0.547000													3	20					0	0	0.150653	0	0
UIMC1	51720	broad.mit.edu	37	5	176370462	176370462	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr5:176370462C>T	ENST00000377219.2	-	10	1637	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	UIMC1_ENST00000506128.1_Missense_Mutation_p.E325K|UIMC1_ENST00000511320.1_Missense_Mutation_p.E491K|UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000377227.4_Missense_Mutation_p.E491K	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	491	Necessary for interaction with NR6A1 C- terminus.				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATAGCTACTTCCTTCTCAGCA	0.433000													8	100					0	0	0.307466	0	0
TIAM1	7074	broad.mit.edu	37	21	32582412	32582412	+	Silent	SNP	C	C	T	rs28520154		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr21:32582412C>T	ENST00000286827.3	-	12	2808	c.2337G>A	c.(2335-2337)acG>acA	p.T779T	TIAM1_ENST00000541036.1_Silent_p.T754T	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	779	RBD.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCCGGACGACCGTCAGGGCAG	0.547000													3	57					0	0	0.115264	0	0
SLC37A3	84255	broad.mit.edu	37	7	140051237	140051237	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr7:140051237C>G	ENST00000326232.9	-	9	921	c.718G>C	c.(718-720)Gag>Cag	p.E240Q	SLC37A3_ENST00000340308.3_Missense_Mutation_p.E240Q|SLC37A3_ENST00000429996.2_3'UTR|SLC37A3_ENST00000447932.2_Missense_Mutation_p.E240Q	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	240					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					TCTTCTGCCTCAATACCCGAG	0.423000													4	82					0	0	0.150653	0	0
UBAP2L	9898	broad.mit.edu	37	1	154234112	154234112	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:154234112G>A	ENST00000428931.1	+	24	3008	c.2841G>A	c.(2839-2841)gtG>gtA	p.V947V	UBAP2L_ENST00000343815.6_Silent_p.V947V|UBAP2L_ENST00000361546.2_Silent_p.V947V|UBAP2L_ENST00000271877.7_Silent_p.V958V	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	947					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATGTCAGTGTGAATGCATCGG	0.512000													8	205					0	0	0.335167	0	0
GPR75	10936	broad.mit.edu	37	2	54081274	54081274	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:54081274T>C	ENST00000394705.2	-	2	890	c.620A>G	c.(619-621)tAt>tGt	p.Y207C	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	207						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GTCGACCACATAGAGAGACAA	0.507000													7	117					0	0	0.278610	0	0
APCDD1L	164284	broad.mit.edu	37	20	57042196	57042196	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr20:57042196G>T	ENST00000371149.3	-	3	937	c.707C>A	c.(706-708)cCc>cAc	p.P236H	APCDD1L_ENST00000439429.1_Missense_Mutation_p.P247H	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	236						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GTAGCCCGTGGGCCGGTAGTG	0.731000													14	81					3.32936e-07	3.56452e-07	0.539581	1	0
GPR75	10936	broad.mit.edu	37	2	54081280	54081280	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:54081280G>C	ENST00000394705.2	-	2	884	c.614C>G	c.(613-615)tCt>tGt	p.S205C	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	205						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CACATAGAGAGACAAAATGGC	0.493000													8	114					0	0	0.307466	0	0
NMRAL1	57407	broad.mit.edu	37	16	4511851	4511851	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr16:4511851C>T	ENST00000574733.1	-	6	1559	c.830G>A	c.(829-831)aGa>aAa	p.R277K	NMRAL1_ENST00000283429.6_Missense_Mutation_p.R277K|NMRAL1_ENST00000574425.1_Missense_Mutation_p.R277K|NMRAL1_ENST00000404295.3_Missense_Mutation_p.R277K			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	277						nucleus|perinuclear region of cytoplasm	binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						GGGGTTGAGTCTCAGGGTCAG	0.617000													12	232					0	0	0.435327	0	0
USH2A	7399	broad.mit.edu	37	1	215901707	215901707	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:215901707C>T	ENST00000366943.2	-	61	12117	c.11731G>A	c.(11731-11733)Gag>Aag	p.E3911K	USH2A_ENST00000307340.3_Missense_Mutation_p.E3911K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3911	Fibronectin type-III 24.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACAGACTCCTCTTCAATGCCA	0.448000										HNSCC(13;0.011)			4	47					0	0	0.150653	0	0
EBF3	253738	broad.mit.edu	37	10	131671831	131671831	+	Silent	SNP	G	G	A	rs147554322		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr10:131671831G>A	ENST00000368648.3	-	8	738	c.666C>T	c.(664-666)gaC>gaT	p.D222D	EBF3_ENST00000355311.5_Silent_p.D222D	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	222					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)		GCACGTGGCCGTCCACGTTGA	0.522000													3	48					0	0	0.115264	0	0
MED13	9969	broad.mit.edu	37	17	60059762	60059762	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:60059762G>T	ENST00000397786.2	-	16	3678	c.3602C>A	c.(3601-3603)tCa>tAa	p.S1201*		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1201					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCCAAAGGGTGAAAATAAATT	0.388000													8	134					1.06961e-07	1.15158e-07	0.278610	1	0
ANKS1B	56899	broad.mit.edu	37	12	100205990	100205990	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr12:100205990C>T	ENST00000547776.2	-	3	314	c.315G>A	c.(313-315)gtG>gtA	p.V105V	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Silent_p.V105V	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	105						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TCACAATTTCCACATCTCCTT	0.403000													5	94					0	0	0.217242	0	0
SLC43A1	8501	broad.mit.edu	37	11	57259332	57259332	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr11:57259332G>A	ENST00000278426.3	-	9	1230	c.875C>T	c.(874-876)tCt>tTt	p.S292F	SLC43A1_ENST00000533515.1_5'UTR|SLC43A1_ENST00000528450.1_Missense_Mutation_p.S292F	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	292					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						TAAGGGGACAGACCCTGGGGA	0.607000											OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	37					0	0	0.150653	0	0
PRKCG	5582	broad.mit.edu	37	19	54410095	54410095	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:54410095C>A	ENST00000263431.3	+	18	2322	c.2040C>A	c.(2038-2040)ttC>ttA	p.F680L	PRKCG_ENST00000542049.1_Missense_Mutation_p.F531L|PRKCG_ENST00000540413.1_Missense_Mutation_p.F680L	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	680	AGC-kinase C-terminal.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ACCCCGACTTCGTGCACCCGG	0.687000											OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	139					2.80697e-09	3.0506e-09	0.387290	1	0
TPTEP1	387590	broad.mit.edu	37	22	17119516	17119516	+	RNA	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr22:17119516C>A	ENST00000426585.1	+	0	328																											CTCGTCCTTGCCGACCTAATT	0.328000													8	82					0.000673444	0.000692685	0.361761	1	0
KIF7	374654	broad.mit.edu	37	15	90189215	90189215	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr15:90189215C>T	ENST00000394412.3	-	8	1907	c.1831G>A	c.(1831-1833)Gag>Aag	p.E611K		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	611					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CTGTTCACCTCAGTCAGCAAC	0.592000													13	160					0	0	0.520397	0	0
CHD7	55636	broad.mit.edu	37	8	61735145	61735145	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr8:61735145G>A	ENST00000423902.2	+	12	3520	c.3041G>A	c.(3040-3042)gGa>gAa	p.G1014E	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.G1014E	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1014	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TATTTGAAAGGAATCCATGGC	0.408000													15	223					0	0	0.539581	0	0
EPHX4	253152	broad.mit.edu	37	1	92515897	92515897	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:92515897C>T	ENST00000370383.4	+	5	726	c.628C>T	c.(628-630)Cag>Tag	p.Q210*		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	210						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						ACACCCTGCTCAGCTGTTGAA	0.328000													6	104					0	0	0.217242	0	0
DMD	1756	broad.mit.edu	37	X	32328262	32328262	+	Silent	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chrX:32328262G>C	ENST00000357033.4	-	42	6260	c.6054C>G	c.(6052-6054)ctC>ctG	p.L2018L	DMD_ENST00000378677.2_Silent_p.L2014L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2018					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CAGGAGCATTGAGAAGTTGTT	0.393000													5	83					0	0	0.248553	0	0
SNAP23	8773	broad.mit.edu	37	15	42821985	42821985	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr15:42821985C>G	ENST00000249647.3	+	7	1006	c.538C>G	c.(538-540)Caa>Gaa	p.Q180E	SNAP23_ENST00000564153.1_Intron|SNAP23_ENST00000397138.1_Missense_Mutation_p.Q127E|SNAP23_ENST00000349777.1_Missense_Mutation_p.Q127E	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN	synaptosomal-associated protein, 23kDa	180	t-SNARE coiled-coil homology 2.				cellular membrane fusion|post-Golgi vesicle-mediated transport|protein transport|vesicle targeting	azurophil granule|cell junction|Golgi apparatus|nucleus|plasma membrane enriched fraction|specific granule|synapse|synaptosome	protein binding			large_intestine(1)|lung(1)	2		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		GATTGATGCTCAAAATCCACA	0.403000													5	72					0	0	0.184627	0	0
CUL4B	8450	broad.mit.edu	37	X	119670883	119670883	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chrX:119670883G>A	ENST00000371322.5	-	15	2006	c.1945C>T	c.(1945-1947)Cag>Tag	p.Q649*	CUL4B_ENST00000404115.3_Nonsense_Mutation_p.Q667*|CUL4B_ENST00000336592.6_Nonsense_Mutation_p.Q654*	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	667					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTCTGATTCTGCATATACTAT	0.348000													11	105					0	0	0.435327	0	0
PPP1R36	145376	broad.mit.edu	37	14	65053984	65053984	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr14:65053984G>C	ENST00000298705.1	+	10	880	c.784G>C	c.(784-786)Gaa>Caa	p.E262Q	RP11-973N13.3_ENST00000554454.1_RNA|RP11-973N13.3_ENST00000556634.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	CN050_HUMAN	protein phosphatase 1, regulatory subunit 36	262																	GATTGAAGAAGAAGTAGGGAG	0.413000													3	66					0	0	0.150653	0	0
C4orf50	389197	broad.mit.edu	37	4	5961300	5961300	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr4:5961300G>A	ENST00000531445.1	-	7	2101	c.2055C>T	c.(2053-2055)gtC>gtT	p.V685V	C4orf50_ENST00000324058.5_Silent_p.V211V			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	211										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						GTTCCACAGTGACCGCTGCCA	0.577000													5	44					0	0	0.248553	0	0
C1orf189	388701	broad.mit.edu	37	1	154173021	154173021	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:154173021C>T	ENST00000368525.3	-	3	143	c.118G>A	c.(118-120)Ggc>Agc	p.G40S		NM_001010979.1	NP_001010979.1	Q5VU69	CA189_HUMAN	chromosome 1 open reading frame 189	40										kidney(1)|large_intestine(3)|lung(1)|skin(2)	7	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CTTCTCTGGCCCAATGCCATT	0.507000													15	401					0	0	0.539581	0	0
RARG	5916	broad.mit.edu	37	12	53605514	53605514	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr12:53605514G>C	ENST00000425354.2	-	10	1798	c.1311C>G	c.(1309-1311)agC>agG	p.S437R	RARG_ENST00000327550.3_Missense_Mutation_p.S365R|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000394426.1_Missense_Mutation_p.S437R|RARG_ENST00000338561.5_Missense_Mutation_p.S426R|RARG_ENST00000543726.1_Missense_Mutation_p.S415R	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	437					canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CCTCATCCTCGCTAGAGGCAT	0.637000													3	23					0	0	0.115264	0	0
FBN3	84467	broad.mit.edu	37	19	8193926	8193926	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:8193926G>A	ENST00000600128.1	-	18	2696	c.2282C>T	c.(2281-2283)aCg>aTg	p.T761M	FBN3_ENST00000601739.1_Missense_Mutation_p.T761M|FBN3_ENST00000270509.2_Missense_Mutation_p.T761M			Q75N90	FBN3_HUMAN	fibrillin 3	761	EGF-like 9; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCAGATCTCCGTGTCCTGCCA	0.602000													3	69					0	0	0.115264	0	0
ODF2L	57489	broad.mit.edu	37	1	86848624	86848624	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:86848624T>C	ENST00000359242.3	-	6	778	c.497A>G	c.(496-498)cAg>cGg	p.Q166R	ODF2L_ENST00000317336.7_Missense_Mutation_p.Q166R|ODF2L_ENST00000370566.3_Missense_Mutation_p.Q166R|ODF2L_ENST00000370567.1_Missense_Mutation_p.Q166R|ODF2L_ENST00000294678.2_Missense_Mutation_p.Q166R|ODF2L_ENST00000394731.1_Missense_Mutation_p.Q35R	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	166						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		CTTTTCACTCTGAAACAAACA	0.328000													3	66					0	0	0.115264	0	0
ZXDC	79364	broad.mit.edu	37	3	126157291	126157291	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:126157291G>A	ENST00000389709.3	-	10	2557	c.2504C>T	c.(2503-2505)tCa>tTa	p.S835L		NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	835	Interaction with CIITA.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GCCTCCAGATGAGGGGAGCAC	0.627000													4	33					0	0	0.184627	0	0
BPNT1	10380	broad.mit.edu	37	1	220240712	220240712	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:220240712G>C	ENST00000469520.2	-	7	855	c.406C>G	c.(406-408)Ctt>Gtt	p.L136V	BPNT1_ENST00000354807.3_Missense_Mutation_p.L136V|BPNT1_ENST00000482136.1_5'UTR|BPNT1_ENST00000414869.2_Missense_Mutation_p.L100V|BPNT1_ENST00000544404.1_Missense_Mutation_p.L81V|BPNT1_ENST00000322067.7_Missense_Mutation_p.L136V			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	136					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		ATTCCAATAAGAACTGTTACA	0.308000													6	92					0	0	0.217242	0	0
OR2G6	391211	broad.mit.edu	37	1	248685808	248685808	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:248685808C>T	ENST00000343414.4	+	1	893	c.861C>T	c.(859-861)ccC>ccT	p.P287P		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTTAAACCCCATTATCTACA	0.448000													15	45					0	0	0.500413	0	0
CACNA1S	779	broad.mit.edu	37	1	201061110	201061110	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:201061110C>T	ENST00000362061.3	-	4	757	c.531G>A	c.(529-531)tcG>tcA	p.S177S	CACNA1S_ENST00000367338.3_Silent_p.S177S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	177					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)	TAGGCACCCCCGACACCAGCC	0.612000													8	39					0	0	0.278610	0	0
MCMBP	79892	broad.mit.edu	37	10	121619343	121619343	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr10:121619343C>T	ENST00000360003.3	-	2	281	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	MCMBP_ENST00000369077.3_Missense_Mutation_p.E38K|MCMBP_ENST00000466047.1_5'UTR	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	38					cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						TTCAGCTTTTCCTTAAAATAC	0.353000													3	69					0	0	0.150653	0	0
TMEM63A	9725	broad.mit.edu	37	1	226034879	226034879	+	Silent	SNP	C	C	T	rs138912199		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:226034879C>T	ENST00000366835.3	-	24	2556	c.2286G>A	c.(2284-2286)tcG>tcA	p.S762S		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	762						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CTGTCCTCTCCGAGGCCAAGC	0.597000													12	198					0	0	0.500413	0	0
HTR4	3360	broad.mit.edu	37	5	147928367	147928367	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr5:147928367C>T	ENST00000360693.3	-	4	355	c.217G>A	c.(217-219)Gtg>Atg	p.V73M	HTR4_ENST00000517929.1_Missense_Mutation_p.V73M|HTR4_ENST00000377888.3_Missense_Mutation_p.V73M|HTR4_ENST00000521530.1_Missense_Mutation_p.V73M|HTR4_ENST00000354217.2_Missense_Mutation_p.V73M|HTR4_ENST00000520514.1_Missense_Mutation_p.V73M|HTR4_ENST00000362016.2_Missense_Mutation_p.V73M|HTR4_ENST00000314512.6_Missense_Mutation_p.V73M|HTR4_ENST00000521735.1_Missense_Mutation_p.V73M	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	73					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	AAGGGCATCACCAGCACCGAA	0.468000													5	66					0	0	0.248553	0	0
SLC22A2	6582	broad.mit.edu	37	6	160663435	160663435	+	Splice_Site	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr6:160663435C>G	ENST00000366953.3	-	8	1538		c.e8-1		SLC22A2_ENST00000491092.1_Splice_Site	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2						body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CATTGTAGATCTAAGAGGGAA	0.448000													8	65					0	0	0.307466	0	0
FAM111B	374393	broad.mit.edu	37	11	58893123	58893123	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr11:58893123C>G	ENST00000343597.3	+	4	1744	c.1553C>G	c.(1552-1554)aCt>aGt	p.T518S	FAM111B_ENST00000529618.1_Missense_Mutation_p.T488S|FAM111B_ENST00000411426.1_Missense_Mutation_p.T488S	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	518							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GTAACCTTCACTTATACAGAG	0.373000													13	147					0	0	0.500413	0	0
FGD6	55785	broad.mit.edu	37	12	95566467	95566467	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr12:95566467G>A	ENST00000343958.4	-	3	2718	c.2495C>T	c.(2494-2496)tCt>tTt	p.S832F	FGD6_ENST00000546711.1_Missense_Mutation_p.S832F|FGD6_ENST00000549499.1_Missense_Mutation_p.S832F	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	832				S -> P (in Ref. 3; CAD98096).	actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CTCCTCATCAGAGGGAAGGTC	0.433000													10	163					0	0	0.387290	0	0
APITD1-CORT	100526739	broad.mit.edu	37	1	10500432	10500432	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:10500432G>A	ENST00000400900.2	+	4	654	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	APITD1-CORT_ENST00000470413.2_Intron|APITD1-CORT_ENST00000465026.1_3'UTR|APITD1_ENST00000462462.1_3'UTR|APITD1_ENST00000309048.3_Missense_Mutation_p.E80K|APITD1_ENST00000602787.1_Missense_Mutation_p.E80K|APITD1_ENST00000602296.1_Intron			Q8N2Z9	CENPS_HUMAN		80					DNA repair|mitotic prometaphase|transcription initiation, DNA-dependent	chromosome, centromeric region|cytosol|Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding										AATTAACACTGAAGATGTGAA	0.393000													4	65					0	0	0.248553	0	0
ATRNL1	26033	broad.mit.edu	37	10	117040926	117040926	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr10:117040926G>T	ENST00000355044.3	+	14	2288	c.2162G>T	c.(2161-2163)aGc>aTc	p.S721I		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	721	PSI 3.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AAACTTACCAGCTGTAAAAGC	0.353000													11	66					2.31682e-05	2.4486e-05	0.479597	1	0
DVL2	1856	broad.mit.edu	37	17	7131015	7131015	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:7131015G>A	ENST00000005340.5	-	11	1472	c.1190C>T	c.(1189-1191)tCc>tTc	p.S397F	DVL2_ENST00000575458.1_Missense_Mutation_p.S391F	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	397					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GCTCATGGAGGAGGAACCTGG	0.597000													3	37					0	0	0.115264	0	0
GUCY2F	2986	broad.mit.edu	37	X	108708419	108708419	+	Silent	SNP	T	T	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chrX:108708419T>G	ENST00000218006.2	-	3	1275	c.984A>C	c.(982-984)acA>acC	p.T328T		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	328					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CTGCTGCCTCTGTGAAGGCTT	0.468000													5	180					0	0	0.217242	0	0
SEH1L	81929	broad.mit.edu	37	18	12982593	12982593	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr18:12982593C>T	ENST00000262124.11	+	7	965	c.838C>T	c.(838-840)Cag>Tag	p.Q280*	SEH1L_ENST00000399892.2_Nonsense_Mutation_p.Q280*|SEH1L_ENST00000592582.1_3'UTR	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	280					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						TCATAATTCTCAGGTCTGGCG	0.413000													15	187					0	0	0.500413	0	0
AGO2	27161	broad.mit.edu	37	8	141549523	141549523	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr8:141549523C>A	ENST00000220592.5	-	16	2177	c.2065G>T	c.(2065-2067)Gag>Tag	p.E689*	AGO2_ENST00000519980.1_Nonsense_Mutation_p.E689*	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		ATACAGGCCTCACGGATGGCC	0.567000													6	111					2.17888e-05	2.30705e-05	0.335167	1	0
BIRC6	57448	broad.mit.edu	37	2	32673888	32673888	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:32673888G>A	ENST00000421745.2	+	22	4644	c.4510G>A	c.(4510-4512)Gat>Aat	p.D1504N		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1504					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTCACCATTTGATCCAGTCCT	0.313000													14	54					0	0	0.539581	0	0
AHR	196	broad.mit.edu	37	7	17382605	17382605	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr7:17382605C>T	ENST00000242057.4	+	11	3107	c.2464C>T	c.(2464-2466)Cag>Tag	p.Q822*		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	822				LNETYPAELNNINNTQTTTHLQPLHHPSEARPFPDLTSSGF L -> FK (in Ref. 1; BAA03857).	apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					AAATAACACTCAGACTACCAC	0.368000													20	135					0	0	0.639603	0	0
NRXN1	9378	broad.mit.edu	37	2	50850623	50850623	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:50850623C>T	ENST00000404971.1	-	7	2401	c.1062G>A	c.(1060-1062)atG>atA	p.M354I	NRXN1_ENST00000406316.2_Missense_Mutation_p.M321I|NRXN1_ENST00000401669.2_Missense_Mutation_p.M321I|NRXN1_ENST00000406859.3_Missense_Mutation_p.M321I|NRXN1_ENST00000402717.3_Missense_Mutation_p.M321I|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.M321I	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	321	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CAGTGTGAAGCATCAGTCCAT	0.433000													22	181					0	0	0.706142	0	0
KCNQ1	3784	broad.mit.edu	37	11	2610039	2610039	+	Missense_Mutation	SNP	G	G	C	rs148266527		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr11:2610039G>C	ENST00000155840.5	+	10	1456	c.1348G>C	c.(1348-1350)Gag>Cag	p.E450Q	KCNQ1_ENST00000335475.5_Missense_Mutation_p.E323Q	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	450					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CCCCCCAGAAGAGCGGCGGCT	0.562000													4	15					0	0	0.184627	0	0
BRAF	673	broad.mit.edu	37	7	140494157	140494157	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr7:140494157G>A	ENST00000288602.6	-	8	1151	c.1091C>T	c.(1090-1092)tCa>tTa	p.S364L		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	364					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GGGAGCTGATGAGGATCGGTC	0.408000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				13	123					0	0	0.500413	0	0
CEP135	9662	broad.mit.edu	37	4	56819371	56819371	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr4:56819371G>C	ENST00000257287.4	+	3	358	c.234G>C	c.(232-234)ttG>ttC	p.L78F	CEP135_ENST00000422247.2_Missense_Mutation_p.L78F	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	78					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					ATGCAAGATTGAGTAGAGAAA	0.308000													5	67					0	0	0.184627	0	0
PDE1C	5137	broad.mit.edu	37	7	31862716	31862716	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr7:31862716C>T	ENST00000396184.3	-	15	1757	c.1553G>A	c.(1552-1554)cGg>cAg	p.R518Q	PDE1C_ENST00000321453.7_Missense_Mutation_p.R518Q|PDE1C_ENST00000396193.1_Missense_Mutation_p.R578Q|PDE1C_ENST00000396191.1_Missense_Mutation_p.R518Q|PDE1C_ENST00000396182.2_Missense_Mutation_p.R518Q	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	518	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CCATCTCTCCCGATTGATGTG	0.473000													11	185					0	0	0.387290	0	0
ZNF407	55628	broad.mit.edu	37	18	72343658	72343658	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr18:72343658C>T	ENST00000299687.5	+	1	683	c.683C>T	c.(682-684)tCa>tTa	p.S228L	ZNF407_ENST00000582337.1_Missense_Mutation_p.S228L|ZNF407_ENST00000577538.1_Missense_Mutation_p.S228L|ZNF407_ENST00000309902.6_Missense_Mutation_p.S228L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAGAGCAGCTCAGCACTACAT	0.438000													17	151					0	0	0.500413	0	0
HIST1H2AG	8969	broad.mit.edu	37	6	27101102	27101102	+	Silent	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr6:27101102C>A	ENST00000359193.2	+	1	271	c.252C>A	c.(250-252)ctC>ctA	p.L84L		NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	84					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						CGCGTCATCTCCAACTGGCCA	0.627000													18	144					1.10923e-09	1.20778e-09	0.639603	1	0
NCKIPSD	51517	broad.mit.edu	37	3	48719502	48719502	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:48719502C>T	ENST00000294129.2	-	4	693	c.574G>A	c.(574-576)Gag>Aag	p.E192K	NCKIPSD_ENST00000416649.2_Missense_Mutation_p.E185K|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.E192K	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	192	Pro-rich.				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATCAGGGCCTCGCGGTCTCGG	0.607000													3	51					0	0	0.150653	0	0
BRF1	2972	broad.mit.edu	37	14	105739145	105739145	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr14:105739145C>T	ENST00000546474.1	-	3	15311	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	BRF1_ENST00000440513.3_Missense_Mutation_p.V3M|BRF1_ENST00000379937.2_Missense_Mutation_p.V91M|BRF1_ENST00000548421.1_Missense_Mutation_p.V118M|BRF1_ENST00000327359.3_Missense_Mutation_p.V3M	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	118					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		TGCCTGCTCACGGCCATCTTG	0.632000													4	177					0	0	0.150653	0	0
PRDM7	11105	broad.mit.edu	37	16	90126823	90126823	+	Missense_Mutation	SNP	T	T	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr16:90126823T>G	ENST00000449207.2	-	9	1178	c.1159A>C	c.(1159-1161)Atg>Ctg	p.M387L	PRDM7_ENST00000325921.6_Intron|PRDM7_ENST00000407825.1_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	387						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCATCCCCATACCAGACCAG	0.522000													4	96					0	0	0.150653	0	0
KRT72	140807	broad.mit.edu	37	12	52984645	52984645	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr12:52984645G>C	ENST00000293745.2	-	6	1149	c.1064C>G	c.(1063-1065)tCa>tGa	p.S355*	KRT72_ENST00000398066.3_Nonsense_Mutation_p.S167*|KRT72_ENST00000354310.4_Intron|KRT72_ENST00000537672.2_Nonsense_Mutation_p.S355*	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	355	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CCCTATCTCTGAGCGGATCCT	0.488000													12	98					0	0	0.457914	0	0
GRIPAP1	56850	broad.mit.edu	37	X	48855860	48855860	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chrX:48855860C>G	ENST00000376423.4	-	2	131	c.99G>C	c.(97-99)aaG>aaC	p.K33N	GRIPAP1_ENST00000376444.3_Missense_Mutation_p.K33N|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.K33N|GRIPAP1_ENST00000376441.1_Missense_Mutation_p.K33N			Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	33						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CAACACCATTCTTGCGTAGTT	0.552000													4	67					0	0	0.248553	0	0
MUC20	200958	broad.mit.edu	37	3	195456586	195456586	+	Silent	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:195456586A>G	ENST00000320736.6	+	4	1650	c.1524A>G	c.(1522-1524)agA>agG	p.R508R	MUC20_ENST00000445522.2_Silent_p.R644R|MUC20_ENST00000436408.1_Silent_p.R679R|MUC20_ENST00000447234.2_Silent_p.R679R			Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	679	Involved in oligomerization.		Missing.		protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CTGACCCCAGAGTGGCAGAAA	0.592000													8	9					0	0	0.387290	0	0
C2orf16	84226	broad.mit.edu	37	2	27805353	27805353	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:27805353C>T	ENST00000408964.2	+	1	5965	c.5914C>T	c.(5914-5916)Ccc>Tcc	p.P1972S		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1972										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ACATAAAAATCCCAAAGCAGG	0.507000													19	188					0	0	0.667858	0	0
OR7C1	26664	broad.mit.edu	37	19	14910879	14910879	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:14910879G>T	ENST00000248073.2	-	1	144	c.70C>A	c.(70-72)Cag>Aag	p.Q24K	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	24					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AGAATGAACTGAATCTCTGAC	0.468000													6	159					3.59834e-05	3.78911e-05	0.217242	1	0
MAPK3	5595	broad.mit.edu	37	16	30134420	30134420	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr16:30134420G>A	ENST00000403394.1	-	1	210	c.111C>T	c.(109-111)gaC>gaT	p.D37D	MAPK3_ENST00000395200.1_Silent_p.D8D|MAPK3_ENST00000395199.3_Silent_p.D37D|MAPK3_ENST00000395202.1_Silent_p.D37D|MAPK3_ENST00000322266.5_Silent_p.D37D|MAPK3_ENST00000263025.4_Silent_p.D37D	NM_001040056.1	NP_001035145.1	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	37					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	GCGGGCCCACGTCGAACGGCT	0.751000													4	42					0	0	0.217242	0	0
RXFP2	122042	broad.mit.edu	37	13	32313816	32313816	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr13:32313816C>T	ENST00000298386.2	+	1	138	c.67C>T	c.(67-69)Cat>Tat	p.H23Y	RXFP2_ENST00000380314.1_Missense_Mutation_p.H23Y	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	23						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CTTTCTACTTCATTTCATCGT	0.333000													5	88					0	0	0.217242	0	0
TNK2	10188	broad.mit.edu	37	3	195608974	195608974	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:195608974G>A	ENST00000333602.6	-	6	1452	c.835C>T	c.(835-837)Cag>Tag	p.Q279*	TNK2_ENST00000316664.3_Nonsense_Mutation_p.Q279*|TNK2_ENST00000468819.1_Intron|TNK2_ENST00000392400.1_Nonsense_Mutation_p.Q279*|TNK2_ENST00000381916.2_Nonsense_Mutation_p.Q342*|TNK2_ENST00000428187.1_Nonsense_Mutation_p.Q311*	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	279	Protein kinase.				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TCGTCATTCTGAGGTAGTGCT	0.602000													6	77					0	0	0.278610	0	0
HCN1	348980	broad.mit.edu	37	5	45303797	45303797	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr5:45303797C>T	ENST00000303230.4	-	6	1579	c.1522G>A	c.(1522-1524)Gtg>Atg	p.V508M		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	508						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.V508M(1)		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						TTTTTACCCACGGCTCCTTCT	0.393000													14	92					0	0	0.500413	0	0
NLRC4	58484	broad.mit.edu	37	2	32475775	32475775	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:32475775G>C	ENST00000404025.2	-	5	1646	c.1158C>G	c.(1156-1158)ttC>ttG	p.F386L	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.F386L|NLRC4_ENST00000360906.5_Missense_Mutation_p.F386L			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	386	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)					GGCTCCGAATGAAGTCACTTG	0.468000													9	56					0	0	0.361761	0	0
NCOA1	8648	broad.mit.edu	37	2	24929921	24929921	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:24929921A>G	ENST00000405141.1	+	14	2293	c.1582A>G	c.(1582-1584)Aat>Gat	p.N528D	NCOA1_ENST00000406961.1_Missense_Mutation_p.N528D|NCOA1_ENST00000538539.1_Missense_Mutation_p.N528D|NCOA1_ENST00000288599.5_Missense_Mutation_p.N528D|NCOA1_ENST00000348332.3_Missense_Mutation_p.N528D|NCOA1_ENST00000407230.1_Missense_Mutation_p.N377D|NCOA1_ENST00000395856.3_Missense_Mutation_p.N528D			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	528	Interaction with STAT3.|Ser-rich.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCTGTAATAATAATAACCG	0.433000			T	PAX3	alveolar rhadomyosarcoma								3	121					0	0	0.115264	0	0
CLSTN3	9746	broad.mit.edu	37	12	7290563	7290563	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr12:7290563C>G	ENST00000537408.1	+	7	1797	c.1259C>G	c.(1258-1260)tCt>tGt	p.S420C	CLSTN3_ENST00000266546.6_Missense_Mutation_p.S408C			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	408					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GACGGCTTCTCTCACTACTCG	0.577000													15	105					0	0	0.539581	0	0
KCNB1	3745	broad.mit.edu	37	20	47990816	47990816	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr20:47990816C>T	ENST00000371741.4	-	2	1447	c.1281G>A	c.(1279-1281)gaG>gaA	p.E427E		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	427					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGATTGCTTTCTCCTGTCTCT	0.502000													4	125					0	0	0.150653	0	0
NTRK2	4915	broad.mit.edu	37	9	87338522	87338522	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr9:87338522C>T	ENST00000304053.6	+	7	1101	c.618C>T	c.(616-618)ctC>ctT	p.L206L	NTRK2_ENST00000395882.1_Silent_p.L206L|NTRK2_ENST00000277120.3_Silent_p.L206L|NTRK2_ENST00000376214.1_Silent_p.L206L|NTRK2_ENST00000359847.3_Silent_p.L206L|NTRK2_ENST00000376213.1_Silent_p.L206L|NTRK2_ENST00000395866.2_Silent_p.L50L|NTRK2_ENST00000323115.4_Silent_p.L206L|NTRK2_ENST00000376208.1_Silent_p.L206L	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	206	Ig-like C2-type 1.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						CACCTAACCTCACTGTGGAGG	0.408000										TSP Lung(25;0.17)			7	73					0	0	0.307466	0	0
ZP4	57829	broad.mit.edu	37	1	238049174	238049174	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:238049174G>A	ENST00000366570.4	-	7	1010	c.852C>T	c.(850-852)agC>agT	p.S284S	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	284	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.S284S(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGTAGCTGCAGCTGACATGGA	0.478000													5	68					0	0	0.184627	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162579	90162579	+	RNA	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr16:90162579C>T	ENST00000567960.1	+	0	1315				TUBB8P7_ENST00000564451.1_RNA																							AGGAGTATGCCGAGGAGGAGG	0.512000													4	163					0	0	0.150653	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42162962	42162962	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr20:42162962G>A	ENST00000444063.1	+	12	1500	c.1368G>A	c.(1366-1368)gaG>gaA	p.E456E	L3MBTL1_ENST00000427442.2_Silent_p.E524E|L3MBTL1_ENST00000373134.1_Silent_p.E456E|L3MBTL1_ENST00000373135.3_Silent_p.E456E|L3MBTL1_ENST00000418998.1_Silent_p.E524E			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	456					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TGAAGCTGGAGGCTGTGGACC	0.632000													6	101					0	0	0.307466	0	0
ABCC8	6833	broad.mit.edu	37	11	17483190	17483190	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr11:17483190G>A	ENST00000302539.4	-	5	887	c.762C>T	c.(760-762)ccC>ccT	p.P254P	ABCC8_ENST00000389817.3_Silent_p.P254P	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	254					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TCATGGCGATGGGCAGCTTCC	0.587000													4	86					0	0	0.184627	0	0
TTN	7273	broad.mit.edu	37	2	179482573	179482573	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:179482573G>A	ENST00000589042.1	-	253	47729	c.47505C>T	c.(47503-47505)gcC>gcT	p.A15835A	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.A13267A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.A6962A|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.A14194A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.A6770A|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.A6895A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14194	Fibronectin type-III 15.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCGATTTTGGGCTCTCACTC	0.463000													9	96					0	0	0.307466	0	0
CD300LB	124599	broad.mit.edu	37	17	72518922	72518922	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:72518922G>C	ENST00000392621.1	-	4	676	c.672C>G	c.(670-672)atC>atG	p.I224M		NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	187						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						AGTTCATGTAGATAGGCTGTT	0.537000													9	116					0	0	0.387290	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120312861	120312861	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr11:120312861A>G	ENST00000397843.2	+	15	1418	c.1252A>G	c.(1252-1254)Act>Gct	p.T418A	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.T315A|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.T399A	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	418	RGSL.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TTCCAAAGAAACTCGTCGCAT	0.358000			T	MLL	AML								4	50					0	0	0.150653	0	0
RGS9BP	388531	broad.mit.edu	37	19	33167295	33167295	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:33167295G>C	ENST00000334176.3	+	1	983	c.126G>C	c.(124-126)aaG>aaC	p.K42N		NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein	42					negative regulation of signal transduction	integral to membrane				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					AGCTGCAAAAGACGCGCCAGA	0.701000													3	27					0	0	0.115264	0	0
FBXO2	26232	broad.mit.edu	37	1	11708827	11708827	+	Missense_Mutation	SNP	C	C	G	rs149264736		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:11708827C>G	ENST00000354287.4	-	6	1156	c.815G>C	c.(814-816)gGg>gCg	p.G272A		NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN	F-box protein 2	272	FBA.				glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex	sugar binding|ubiquitin-protein ligase activity			kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		GTCCTGCCCCCCGTGCTCGAA	0.667000													9	127					0	0	0.387290	0	0
EFNB2	1948	broad.mit.edu	37	13	107147270	107147270	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr13:107147270C>A	ENST00000245323.4	-	4	721	c.572G>T	c.(571-573)gGa>gTa	p.G191V		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	191					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CGAACTTCTTCCATTTGTACC	0.393000													13	225					5.01169e-05	5.26777e-05	0.520397	1	0
KRTAP10-11	386678	broad.mit.edu	37	21	46066386	46066386	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr21:46066386C>T	ENST00000334670.8	+	1	56	c.11C>T	c.(10-12)tCc>tTc	p.S4F	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60411	KR109_HUMAN	keratin associated protein 10-11	4						keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						ATGGCCGCGTCCACCATGTCT	0.647000													5	222					0	0	0.248553	0	0
HRH1	3269	broad.mit.edu	37	3	11301168	11301168	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:11301168C>T	ENST00000397056.1	+	3	636	c.445C>T	c.(445-447)Ctg>Ttg	p.L149L	HRH1_ENST00000438284.2_Silent_p.L149L|HRH1_ENST00000431010.2_Silent_p.L149L	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	149					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GGCCACCATTCTGGGGGCCTG	0.542000													6	97					0	0	0.217242	0	0
TRIP4	9325	broad.mit.edu	37	15	64689913	64689913	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr15:64689913G>A	ENST00000261884.3	+	4	574	c.514G>A	c.(514-516)Gat>Aat	p.D172N	TRIP4_ENST00000559565.1_3'UTR	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	172					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						TCACCCTTGTGATTGCCTGGG	0.498000													6	84					0	0	0.217242	0	0
TMEM169	92691	broad.mit.edu	37	2	216965210	216965210	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:216965210C>G	ENST00000454545.1	+	4	1165	c.839C>G	c.(838-840)tCa>tGa	p.S280*	TMEM169_ENST00000437356.2_Nonsense_Mutation_p.S280*|TMEM169_ENST00000295658.4_Nonsense_Mutation_p.S280*|TMEM169_ENST00000406027.2_Nonsense_Mutation_p.S280*	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	280						integral to membrane				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACAATATCTCAAGCACTCTC	0.512000													7	84					0	0	0.278610	0	0
CARS	833	broad.mit.edu	37	11	3069173	3069173	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr11:3069173C>T	ENST00000380525.4	-	2	153	c.84G>A	c.(82-84)ctG>ctA	p.L28L	CARS_ENST00000401769.3_Intron|CARS_ENST00000397111.5_Intron|CARS_ENST00000397114.3_5'UTR|CARS_ENST00000278224.9_Intron	NM_001014437.2|NM_001194997.1	NP_001014437.1|NP_001181926.1	P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	0					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	GGTGCTCGTTCAGGGCTTGTG	0.637000			T	ALK	ALCL								5	28					0	0	0.184627	0	0
SORL1	6653	broad.mit.edu	37	11	121414368	121414368	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr11:121414368C>G	ENST00000260197.7	+	13	1926	c.1797C>G	c.(1795-1797)atC>atG	p.I599M	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	599					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TCTTCACCATCTTTGGCTCGA	0.512000													7	181					0	0	0.278610	0	0
OR2T33	391195	broad.mit.edu	37	1	248436919	248436919	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:248436919G>A	ENST00000318021.2	-	1	219	c.198C>T	c.(196-198)ctC>ctT	p.L66L		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			TCATGTCCATGAGGGAAAGTT	0.547000													10	198					0	0	0.387290	0	0
HTT	3064	broad.mit.edu	37	4	3214330	3214330	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr4:3214330G>A	ENST00000355072.5	+	49	6813	c.6668G>A	c.(6667-6669)cGg>cAg	p.R2223Q		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2223					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACTCTGGCCCGGGCCCTGGCA	0.552000													17	235					0	0	0.575678	0	0
DNAH2	146754	broad.mit.edu	37	17	7643790	7643790	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:7643790T>C	ENST00000572933.1	+	10	2889	c.1429T>C	c.(1429-1431)Tca>Cca	p.S477P	DNAH2_ENST00000570791.1_Missense_Mutation_p.S559P|DNAH2_ENST00000082259.3_Missense_Mutation_p.S559P|DNAH2_ENST00000389173.2_Missense_Mutation_p.S477P			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	477	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTGATCACCTCAGCCTTCGA	0.667000													13	219					0	0	0.500413	0	0
SAT2	112483	broad.mit.edu	37	17	7530510	7530510	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:7530510G>C	ENST00000269298.5	-	3	372	c.153C>G	c.(151-153)ttC>ttG	p.F51L	SHBG_ENST00000576728.1_Intron|SAT2_ENST00000380466.2_5'UTR|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000572262.1_Intron|SAT2_ENST00000573566.1_Missense_Mutation_p.F51L|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000570547.1_Intron	NM_133491.3	NP_597998.1	Q96F10	SAT2_HUMAN	spermidine/spermine N1-acetyltransferase family member 2	51	N-acetyltransferase.					cytoplasm	diamine N-acetyltransferase activity	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	AACAGTGATAGAAAGGATTGT	0.547000													7	80					0	0	0.278610	0	0
FLNA	2316	broad.mit.edu	37	X	153596245	153596245	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chrX:153596245C>T	ENST00000422373.1	-	3	835	c.587G>A	c.(586-588)cGg>cAg	p.R196Q	FLNA_ENST00000344736.4_Missense_Mutation_p.R196Q|FLNA_ENST00000369850.3_Missense_Mutation_p.R196Q|FLNA_ENST00000360319.4_Missense_Mutation_p.R196Q	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	196	Actin-binding.|CH 2.		R -> G (in OPD2).|R -> W (in OPD1).		actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCCAGGGCCCGGCCGCTCTG	0.692000													7	54					0	0	0.335167	0	0
NUP210	23225	broad.mit.edu	37	3	13401814	13401814	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:13401814G>T	ENST00000254508.5	-	15	2192	c.2110C>A	c.(2110-2112)Cag>Aag	p.Q704K		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	704					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CAGTGTTGCTGATAATTCCGG	0.577000													18	79					1.96292e-10	2.14543e-10	0.592651	1	0
ELAVL1	1994	broad.mit.edu	37	19	8056716	8056716	+	Splice_Site	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:8056716C>G	ENST00000407627.2	-	2	114		c.e2-1		ELAVL1_ENST00000351593.5_Splice_Site|ELAVL1_ENST00000596459.1_Splice_Site|ELAVL1_ENST00000593807.1_Splice_Site	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1						3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTTCAAAAATCTGCCAAGAGA	0.378000													6	30					0	0	0.248553	0	0
VSIG4	11326	broad.mit.edu	37	X	65253645	65253645	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chrX:65253645C>G	ENST00000455586.2	-	2	209	c.83G>C	c.(82-84)aGt>aCt	p.S28T	VSIG4_ENST00000412866.2_Missense_Mutation_p.S28T|VSIG4_ENST00000374737.4_Missense_Mutation_p.S28T	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	28	Ig-like 1.				complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCTGTTACACTCTCTGGCAC	0.532000													7	96					0	0	0.335167	0	0
MAP2	4133	broad.mit.edu	37	2	210560669	210560669	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:210560669G>A	ENST00000360351.4	+	7	4281	c.3775G>A	c.(3775-3777)Gac>Aac	p.D1259N	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.D1255N|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1259					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TCAGATAACTGACCTGGGTGT	0.483000													14	84					0	0	0.479597	0	0
ATRN	8455	broad.mit.edu	37	20	3562848	3562848	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr20:3562848G>A	ENST00000262919.5	+	16	2679	c.2611G>A	c.(2611-2613)Gat>Aat	p.D871N	ATRN_ENST00000446916.2_Missense_Mutation_p.D871N	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	871	C-type lectin.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GTGCTGGGAAGATATGTCCCC	0.468000													12	94					0	0	0.457914	0	0
HERC2	8924	broad.mit.edu	37	15	28408392	28408392	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr15:28408392G>A	ENST00000261609.7	-	69	10702	c.10594C>T	c.(10594-10596)Cag>Tag	p.Q3532*		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3532					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCCAAGGCCTGAGGCTCCGGA	0.502000													7	108					0	0	0.278610	0	0
SLC35A5	55032	broad.mit.edu	37	3	112299549	112299549	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:112299549C>T	ENST00000492406.1	+	6	868	c.585C>T	c.(583-585)ttC>ttT	p.F195F	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	195						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						GCCTTCTTTTCAGAAGTGAGT	0.463000													10	70					0	0	0.387290	0	0
QARS	5859	broad.mit.edu	37	3	49137079	49137079	+	Splice_Site	SNP	G	G	A	rs141072684		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:49137079G>A	ENST00000306125.6	-	16	1727	c.1390C>T	c.(1390-1392)Cgc>Tgc	p.R464C	QARS_ENST00000414533.1_Splice_Site_p.R453C			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	464					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TAGGAAGAGCGTCTGGGGTGG	0.572000													16	44					0	0	0.520397	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19764521	19764521	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chrX:19764521G>A	ENST00000397821.3	-	3	491	c.201C>T	c.(199-201)aaC>aaT	p.N67N	SH3KBP1_ENST00000379697.3_Silent_p.N67N|SH3KBP1_ENST00000379698.4_Silent_p.N30N	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	67					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CTGGAGCTTTGTTGGTGAGAG	0.398000													16	139					0	0	0.575678	0	0
ZDHHC24	254359	broad.mit.edu	37	11	66313210	66313210	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr11:66313210G>A	ENST00000310442.3	-	1	499	c.265C>T	c.(265-267)Ctg>Ttg	p.L89L	ZDHHC24_ENST00000526986.1_Silent_p.L89L|ZDHHC24_ENST00000525925.1_5'UTR	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	89						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						CCCTGGCCCAGACCGCGGCCG	0.701000													3	14					0	0	0.115264	0	0
FASTK	10922	broad.mit.edu	37	7	150777000	150777000	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr7:150777000G>A	ENST00000297532.6	-	2	169	c.92C>T	c.(91-93)tCa>tTa	p.S31L	FASTK_ENST00000540185.1_5'UTR|FASTK_ENST00000353841.2_Intron|FASTK_ENST00000489884.1_Intron|FASTK_ENST00000482571.1_Missense_Mutation_p.S31L	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	31					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GGAGTTGGGTGATGGAGACCC	0.582000													5	9					0	0	0.217242	0	0
WBSCR17	64409	broad.mit.edu	37	7	71036334	71036334	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr7:71036334C>G	ENST00000333538.5	+	6	1661	c.1027C>G	c.(1027-1029)Ctg>Gtg	p.L343V	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	343	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AATTGGTCTTCTGGATCCTGG	0.498000													9	154					0	0	0.361761	0	0
RAC1	5879	broad.mit.edu	37	7	6431604	6431604	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr7:6431604C>G	ENST00000348035.4	+	3	370	c.157C>G	c.(157-159)Ctg>Gtg	p.L53V	RAC1_ENST00000356142.4_Missense_Mutation_p.L53V|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	53					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	ACCGGTGAATCTGGGCTTATG	0.413000													9	129					0	0	0.335167	0	0
LRP12	29967	broad.mit.edu	37	8	105511661	105511661	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr8:105511661C>T	ENST00000276654.5	-	4	467	c.359G>A	c.(358-360)aGa>aAa	p.R120K	LRP12_ENST00000424843.2_Missense_Mutation_p.R101K	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	120	CUB 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ACCACAAGCTCTGTAACTTTC	0.373000													7	102					0	0	0.248553	0	0
RNF128	79589	broad.mit.edu	37	X	105970542	105970542	+	Silent	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chrX:105970542T>C	ENST00000255499.2	+	1	649	c.399T>C	c.(397-399)caT>caC	p.H133H	RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	133	PA.					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						ACAAGATCCATCTGGCTTATG	0.597000													6	78					0	0	0.278610	0	0
SPATA5	166378	broad.mit.edu	37	4	123977578	123977578	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr4:123977578G>C	ENST00000274008.4	+	12	2185	c.2116G>C	c.(2116-2118)Gaa>Caa	p.E706Q	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5						cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TGGTGAATCTGAAAGAGCAGT	0.378000													5	55					0	0	0.278610	0	0
UACA	55075	broad.mit.edu	37	15	70959792	70959792	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr15:70959792C>G	ENST00000322954.6	-	16	3416	c.3231G>C	c.(3229-3231)caG>caC	p.Q1077H	UACA_ENST00000539319.1_Missense_Mutation_p.Q968H|UACA_ENST00000379983.2_Missense_Mutation_p.Q1064H|UACA_ENST00000560441.1_Missense_Mutation_p.Q1062H	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1077						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CCGTGTATTTCTGTGACAAGT	0.358000													7	51					0	0	0.248553	0	0
KCNN3	3782	broad.mit.edu	37	1	154698406	154698406	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:154698406G>A	ENST00000271915.4	-	5	2002	c.1687C>T	c.(1687-1689)Cag>Tag	p.Q563*	KCNN3_ENST00000361147.4_Nonsense_Mutation_p.Q258*|KCNN3_ENST00000358505.2_Nonsense_Mutation_p.Q250*	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			TTGGTGAGCTGAGTGTCCATC	0.557000													10	54					0	0	0.435327	0	0
TRAK1	22906	broad.mit.edu	37	3	42226217	42226217	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:42226217C>A	ENST00000327628.5	+	4	804	c.404C>A	c.(403-405)tCg>tAg	p.S135*	TRAK1_ENST00000449246.1_Nonsense_Mutation_p.S61*|TRAK1_ENST00000396175.1_Nonsense_Mutation_p.S77*|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Nonsense_Mutation_p.S77*	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	135	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						ATCGGCCAGTCGTTGTTGAAG	0.507000													12	180					1.36491e-13	1.50611e-13	0.435327	1	0
EEA1	8411	broad.mit.edu	37	12	93226360	93226360	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr12:93226360C>G	ENST00000322349.8	-	11	1446	c.1182G>C	c.(1180-1182)gaG>gaC	p.E394D		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	394					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GCTGCTTAAACTCCGCCTTTA	0.358000													9	201					0	0	0.387290	0	0
KMT2D	8085	broad.mit.edu	37	12	49445757	49445757	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr12:49445757G>C	ENST00000301067.7	-	10	1708	c.1709C>G	c.(1708-1710)tCt>tGt	p.S570C		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGACAGGCGAGATGCTTCAGG	0.592000													12	151					0	0	0.411799	0	0
ZNF285	26974	broad.mit.edu	37	19	44891132	44891132	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:44891132C>T	ENST00000330997.4	-	4	1339	c.1275G>A	c.(1273-1275)gaG>gaA	p.E425E	ZNF285_ENST00000591679.1_Silent_p.E432E|ZNF285_ENST00000544719.2_Silent_p.E425E|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TATATGGTTTCTCCCCTGTGT	0.493000													8	67					0	0	0.335167	0	0
FGD2	221472	broad.mit.edu	37	6	36993665	36993665	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr6:36993665G>C	ENST00000274963.8	+	14	1727	c.1556G>C	c.(1555-1557)gGa>gCa	p.G519A		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	519					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TTCCTCACTGGAAATGTGCTG	0.612000													3	73					0	0	0.150653	0	0
CUL7	9820	broad.mit.edu	37	6	43012542	43012542	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr6:43012542C>G	ENST00000535468.1	-	16	3458	c.3372G>C	c.(3370-3372)aaG>aaC	p.K1124N	CUL7_ENST00000265348.3_Missense_Mutation_p.K1040N	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1040					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCCAGCAGGTCTTGCCCAGAG	0.597000													7	97					0	0	0.278610	0	0
BLZF1	8548	broad.mit.edu	37	1	169351299	169351299	+	Splice_Site	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:169351299G>A	ENST00000367808.3	+	6	1220		c.e6-1		BLZF1_ENST00000329281.2_Splice_Site			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1						cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					GTTCTATGCAGATTATTGGAG	0.358000													19	242					0	0	0.592651	0	0
SERTAD2	9792	broad.mit.edu	37	2	64863402	64863402	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:64863402C>T	ENST00000313349.3	-	2	901	c.604G>A	c.(604-606)Gag>Aag	p.E202K		NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	202					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						GTGCCAGCCTCGCTGGAGGTC	0.567000													24	77					0	0	0.693898	0	0
MED23	9439	broad.mit.edu	37	6	131923477	131923477	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr6:131923477G>T	ENST00000403834.3	-	17	2167	c.1994C>A	c.(1993-1995)tCa>tAa	p.S665*	MED23_ENST00000540546.1_Nonsense_Mutation_p.S665*|MED23_ENST00000368068.3_Nonsense_Mutation_p.S659*|MED23_ENST00000354577.4_Nonsense_Mutation_p.S665*|MED23_ENST00000368053.4_Nonsense_Mutation_p.S665*|MED23_ENST00000545957.1_Nonsense_Mutation_p.S300*|MED23_ENST00000368060.3_Nonsense_Mutation_p.S659*|MED23_ENST00000539158.1_3'UTR|MED23_ENST00000368058.1_Nonsense_Mutation_p.S665*			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	659					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)		TTGTACCTCTGAGCTACCTAA	0.403000													6	70					5.18039e-06	5.49522e-06	0.278610	1	0
NMRAL1	57407	broad.mit.edu	37	16	4511853	4511853	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr16:4511853C>T	ENST00000574733.1	-	6	1557	c.828G>A	c.(826-828)ctG>ctA	p.L276L	NMRAL1_ENST00000283429.6_Silent_p.L276L|NMRAL1_ENST00000574425.1_Silent_p.L276L|NMRAL1_ENST00000404295.3_Silent_p.L276L			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	276						nucleus|perinuclear region of cytoplasm	binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						GGTTGAGTCTCAGGGTCAGCT	0.622000													12	236					0	0	0.435327	0	0
ASGR2	433	broad.mit.edu	37	17	7017471	7017471	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:7017471C>T	ENST00000380952.2	-	2	353	c.89G>A	c.(88-90)aGg>aAg	p.R30K	ASGR2_ENST00000355035.5_Missense_Mutation_p.R30K|ASGR2_ENST00000446679.2_Intron|ASGR2_ENST00000254850.7_Intron	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	30					cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	GGGATTCAGCCTGCGAGTGCC	0.537000													11	115					0	0	0.435327	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110495274	110495274	+	Silent	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr8:110495274C>G	ENST00000378402.5	+	57	9620	c.9516C>G	c.(9514-9516)ctC>ctG	p.L3172L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3172	G8 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAACTAAGCTCTCAGAAACTG	0.388000										HNSCC(38;0.096)			5	38					0	0	0.248553	0	0
LRRC41	10489	broad.mit.edu	37	1	46744891	46744891	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:46744891C>T	ENST00000343304.6	-	9	2467	c.2182G>A	c.(2182-2184)Gag>Aag	p.E728K	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	728										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)					GATGAATCCTCTGAGAAAACA	0.542000													6	44					0	0	0.278610	0	0
ZNF721	170960	broad.mit.edu	37	4	466436	466436	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr4:466436A>G	ENST00000506646.1	-	2	216	c.58T>C	c.(58-60)Tgc>Cgc	p.C20R	ZNF721_ENST00000511833.2_5'UTR|ZNF721_ENST00000507078.1_5'UTR|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000338977.5_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						GGGTCCAGGCATTTCCACTCT	0.413000													4	126					0	0	0.217242	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70010646	70010646	+	RNA	SNP	G	G	A	rs149870591	by1000genomes	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr16:70010646G>A	ENST00000531894.1	-	0	3748					NR_003610.1																						CTGTAGGGCCGAAGAAGGGAA	0.478000													4	110					0	0	0.184627	0	0
HLA-G	3135	broad.mit.edu	37	6	29797699	29797699	+	Silent	SNP	G	G	A	rs139184078		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr6:29797699G>A	ENST00000428701.1	+	6	1180	c.1002G>A	c.(1000-1002)aaG>aaA	p.K334K	HLA-G_ENST00000376815.3_Silent_p.K150K|HLA-G_ENST00000360323.6_Silent_p.K334K|HLA-G_ENST00000376828.2_Silent_p.K339K|HLA-G_ENST00000376818.3_Silent_p.K242K	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	334					antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TGTGGAGAAAGAAGAGCTCAG	0.572000													13	89					0	0	0.457914	0	0
ZAK	51776	broad.mit.edu	37	2	174125798	174125798	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr2:174125798T>C	ENST00000375213.3	+	18	1562	c.1484T>C	c.(1483-1485)tTt>tCt	p.F495S	MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.F495S	NM_016653.2	NP_057737.2																					CAGCCACCATTTGTAATGGAG	0.443000													3	104					0	0	0.115264	0	0
ABCC1	4363	broad.mit.edu	37	16	16219752	16219752	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr16:16219752C>T	ENST00000399408.2	+	27	4008	c.3833C>T	c.(3832-3834)tCa>tTa	p.S1278L	ABCC1_ENST00000349029.5_Missense_Mutation_p.S1153L|ABCC1_ENST00000399410.3_Missense_Mutation_p.S1268L|ABCC1_ENST00000351154.5_Missense_Mutation_p.S1209L|ABCC1_ENST00000345148.5_Missense_Mutation_p.S1268L|ABCC1_ENST00000346370.5_Missense_Mutation_p.S1212L			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1268					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AAGGAGTATTCAGAGACTGAG	0.537000													6	54					0	0	0.278610	0	0
NPHP3	27031	broad.mit.edu	37	3	132418250	132418250	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:132418250C>T	ENST00000326682.8	-	13	2008	c.1932G>A	c.(1930-1932)gtG>gtA	p.V644V	NPHP3_ENST00000337331.5_Silent_p.V644V			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	644					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTCTTACATTCACTGGCAGTG	0.323000													6	58					0	0	0.278610	0	0
OR10A6	390093	broad.mit.edu	37	11	7950137	7950137	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr11:7950137C>G	ENST00000309838.2	-	1	72	c.73G>C	c.(73-75)Ggg>Cgg	p.G25R		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAGAGCTGCCCCTGGAGCTCA	0.438000													4	89					0	0	0.150653	0	0
CSE1L	1434	broad.mit.edu	37	20	47706239	47706239	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr20:47706239G>A	ENST00000262982.2	+	19	2260	c.2137G>A	c.(2137-2139)Gaa>Aaa	p.E713K	CSE1L_ENST00000396192.3_Missense_Mutation_p.E657K|CSE1L_ENST00000542325.1_Missense_Mutation_p.E496K	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	713					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			AGCATTCTTAGAACGCGGTTC	0.418000													7	108					0	0	0.335167	0	0
ABCG1	9619	broad.mit.edu	37	21	43691217	43691217	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr21:43691217C>G	ENST00000398437.1	+	4	910	c.762C>G	c.(760-762)ttC>ttG	p.F254L	ABCG1_ENST00000340588.4_Missense_Mutation_p.F216L|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000347800.2_Missense_Mutation_p.F105L|ABCG1_ENST00000343687.3_Missense_Mutation_p.F119L|ABCG1_ENST00000361802.2_Missense_Mutation_p.F108L|ABCG1_ENST00000398457.2_Missense_Mutation_p.F110L|ABCG1_ENST00000398449.3_Missense_Mutation_p.F108L			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	108	ABC transporter.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CCGGGAAGTTCAATAGTGGTG	0.473000													12	125					0	0	0.479597	0	0
OR13G1	441933	broad.mit.edu	37	1	247836307	247836307	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:247836307C>A	ENST00000359688.2	-	1	58	c.37G>T	c.(37-39)Ggc>Tgc	p.G13C	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTGGTGAGGCCCAGAATAATG	0.413000													14	78					1.01871e-10	1.11555e-10	0.575678	1	0
TOX4	9878	broad.mit.edu	37	14	21960463	21960463	+	Silent	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr14:21960463G>A	ENST00000405508.1	+	7	1095	c.819G>A	c.(817-819)aaG>aaA	p.K273K	TOX4_ENST00000262709.3_Silent_p.K273K|TOX4_ENST00000448790.2_Silent_p.K250K			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	273						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		AGGTATATAAGAGGAAAACTG	0.358000													8	84					0	0	0.335167	0	0
ARPP21	10777	broad.mit.edu	37	3	35729240	35729240	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:35729240C>A	ENST00000187397.4	+	6	727	c.271C>A	c.(271-273)Cat>Aat	p.H91N	ARPP21_ENST00000458225.1_Missense_Mutation_p.H91N|ARPP21_ENST00000444190.1_Missense_Mutation_p.H91N|ARPP21_ENST00000417925.1_Missense_Mutation_p.H91N|ARPP21_ENST00000337271.5_Missense_Mutation_p.H91N	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	91						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						GGAATCAATTCATTTACAGCT	0.338000													11	92					1.15088e-07	1.23676e-07	0.500413	1	0
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	by1000genomes	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:21730916G>T	ENST00000584755.1	+	2	615	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L														p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552000													3	92					2.0095e-06	2.14346e-06	0.248553	1	0
UBAC2	337867	broad.mit.edu	37	13	99992667	99992667	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr13:99992667G>C	ENST00000376440.2	+	5	1053	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q	UBAC2_ENST00000403766.3_Missense_Mutation_p.E219Q|UBAC2_ENST00000460562.1_3'UTR	NM_177967.3	NP_808882.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	219						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTGGACACTTGAACCCATCTT	0.527000													4	94					0	0	0.184627	0	0
ATP1A3	478	broad.mit.edu	37	19	42490310	42490310	+	Silent	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:42490310C>T	ENST00000545399.1	-	5	621	c.468G>A	c.(466-468)aaG>aaA	p.K156K	ATP1A3_ENST00000602133.1_Silent_p.K113K|ATP1A3_ENST00000302102.5_Silent_p.K143K|ATP1A3_ENST00000543770.1_Silent_p.K154K	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	143					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TCTTGGAGCTCTTGGCCTCCT	0.607000													15	155					0	0	0.539581	0	0
CROCC	9696	broad.mit.edu	37	1	17265447	17265447	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:17265447C>G	ENST00000375541.5	+	12	1487	c.1418C>G	c.(1417-1419)tCt>tGt	p.S473C	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	473					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CTGAGCGGCTCTGAGCGCACC	0.711000													6	109					0	0	0.361761	0	0
DCDC1	341019	broad.mit.edu	37	11	31329201	31329201	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr11:31329201G>A	ENST00000597505.1	-	2	418	c.419C>T	c.(418-420)cCa>cTa	p.P140L	DCDC1_ENST00000452803.1_Missense_Mutation_p.P140L|RP1-296L11.1_ENST00000528872.1_RNA			P59894	DCDC1_HUMAN	doublecortin domain containing 1	140					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)					TTGACCCACTGGAGCACTGAC	0.358000													12	95					0	0	0.479597	0	0
POMGNT1	55624	broad.mit.edu	37	1	46661740	46661740	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:46661740C>A	ENST00000396420.3	-	5	1000	c.364G>T	c.(364-366)Gat>Tat	p.D122Y	POMGNT1_ENST00000371986.3_Missense_Mutation_p.D122Y|POMGNT1_ENST00000535522.1_Missense_Mutation_p.D100Y|POMGNT1_ENST00000371984.3_Missense_Mutation_p.D122Y|POMGNT1_ENST00000371992.1_Missense_Mutation_p.D122Y			Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	122					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					CGGGCCTCATCCTCCAGCACC	0.567000													4	83					0.00024832	0.000257252	0.150653	1	0
KDR	3791	broad.mit.edu	37	4	55958791	55958791	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr4:55958791G>A	ENST00000263923.4	-	22	3357	c.3062C>T	c.(3061-3063)tCg>tTg	p.S1021L		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1021	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TACCTTTCGCGATGCCAAGAA	0.458000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			7	59					0	0	0.278610	0	0
UPF3B	65109	broad.mit.edu	37	X	118977197	118977197	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chrX:118977197C>G	ENST00000276201.2	-	5	606	c.537G>C	c.(535-537)gaG>gaC	p.E179D	UPF3B_ENST00000345865.2_Missense_Mutation_p.E179D|UPF3B_ENST00000478840.1_5'UTR	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	179	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						CTAGCAGTGTCTCTGGAGTAG	0.338000													7	154					0	0	0.361761	0	0
ALG13	79868	broad.mit.edu	37	X	110970869	110970869	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chrX:110970869G>A	ENST00000394780.3	+	18	2130	c.2118G>A	c.(2116-2118)atG>atA	p.M706I	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Missense_Mutation_p.M602I	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	706					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						ACCGCCAGATGAGTTGTGTGA	0.358000													3	25					0	0	0.150653	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64595223	64595223	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr11:64595223C>T	ENST00000342711.5	-	31	3999	c.4000G>A	c.(4000-4002)Gag>Aag	p.E1334K		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1334	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						ATGGAGTTCTCGCTGAACACT	0.637000													7	84					0	0	0.307466	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675233	40675233	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr15:40675233G>A	ENST00000416151.2	+	1	312	c.197G>A	c.(196-198)cGg>cAg	p.R66Q	KNSTRN_ENST00000608100.1_5'UTR|KNSTRN_ENST00000448395.2_Missense_Mutation_p.R66Q|KNSTRN_ENST00000249776.8_Missense_Mutation_p.R66Q	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		GGGCAGGACCGGCGGGCTCCT	0.592000													10	136					0	0	0.361761	0	0
RHEB	6009	broad.mit.edu	37	7	151188091	151188091	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr7:151188091G>A	ENST00000262187.5	-	2	474	c.62C>T	c.(61-63)tCa>tTa	p.S21L	RHEB_ENST00000472642.1_5'UTR|RHEB_ENST00000496004.1_5'UTR	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	21					cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|metal ion binding|protein binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		AATCGTCAATGAGGATTTCCC	0.323000													4	69					0	0	0.150653	0	0
PORCN	64840	broad.mit.edu	37	X	48372635	48372635	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chrX:48372635C>T	ENST00000367574.4	+	7	986	c.481C>T	c.(481-483)Cga>Tga	p.R161*	PORCN_ENST00000361988.3_Nonsense_Mutation_p.R232*|PORCN_ENST00000355961.4_Nonsense_Mutation_p.R238*|PORCN_ENST00000359882.4_Nonsense_Mutation_p.R237*|PORCN_ENST00000355092.3_Nonsense_Mutation_p.R237*|PORCN_ENST00000326194.6_Nonsense_Mutation_p.R243*|PORCN_ENST00000537758.1_Nonsense_Mutation_p.R243*	NM_001282167.1	NP_001269096.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	243					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGGTGGCTGCGAGCCTACGA	0.597000													4	183					0	0	0.184627	0	0
KCNK6	9424	broad.mit.edu	37	19	38817601	38817601	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:38817601C>T	ENST00000263372.3	+	2	798	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	231						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CCAGCCCTACCGGGCCCTCTA	0.627000													16	125					0	0	0.520397	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713977	142713977	+	RNA	DEL	T	T	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:142713977delT	ENST00000610091.1	-	0	1681																											ATCCATATACTAAAAAGGTTA	0.294													3	5	---	---	---	---					
LOC400794	400794	broad.mit.edu	37	1	165467465	165467465	+	RNA	DEL	A	A	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:165467465delA	ENST00000438275.1	-	0	1445				RP11-280O1.2_ENST00000452283.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000418925.1_RNA																							GGCCCCTTCCAAAACACTTAT	0.517													2	4	---	---	---	---					
ELF3	1999	broad.mit.edu	37	1	201980309	201980309	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:201980309delC	ENST00000359651.3	+	1	3237	c.45delC	c.(43-45)ttcfs	p.F15fs	ELF3_ENST00000495848.1_3'UTR|ELF3_ENST00000367284.5_Frame_Shift_Del_p.F15fs|ELF3_ENST00000367283.3_Frame_Shift_Del_p.F15fs			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	15					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GCAACTACTTCAGTGCGATGT	0.577													54	249	---	---	---	---					
ELF3	1999	broad.mit.edu	37	1	201981483	201981484	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr1:201981483_201981484delTC	ENST00000359651.3	+	3	3589_3590	c.397_398delTC	c.(397-399)tctfs	p.S133fs	ELF3_ENST00000495848.1_3'UTR|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Frame_Shift_Del_p.S133fs|ELF3_ENST00000367283.3_Frame_Shift_Del_p.S133fs			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	133					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						TTCCAGCTCTTCTGATGAGCTC	0.584													9	130	---	---	---	---					
GRIP2	80852	broad.mit.edu	37	3	14555758	14555759	+	RNA	INS	-	-	AGTT	rs10656368	by1000genomes	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:14555758_14555759insAGTT	ENST00000273083.3	-	0	1558							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CAGTTTCTCTCAGAGAGTGGCA	0.579													4	6	---	---	---	---					
ZBTB47	92999	broad.mit.edu	37	3	42700697	42700699	+	In_Frame_Del	DEL	GAG	GAG	-	rs138358868	by1000genomes	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:42700697_42700699delGAG	ENST00000232974.6	+	2	1131_1133	c.850_852delGAG	c.(850-852)gagdel	p.E294del	ZBTB47_ENST00000457842.3_5'UTR|ZBTB47_ENST00000505904.1_5'UTR			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		ggaggacgacgaggaggaggagg	0.655													5	1	---	---	---	---					
ALAS1	211	broad.mit.edu	37	3	52237973	52237978	+	In_Frame_Del	DEL	GCAAAA	GCAAAA	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr3:52237973_52237978delGCAAAA	ENST00000394965.2	+	5	882_887	c.522_527delGCAAAA	c.(520-528)atgcaaaag>atg	p.QK175del	ALAS1_ENST00000310271.2_In_Frame_Del_p.QK175del|ALAS1_ENST00000469224.1_In_Frame_Del_p.QK175del|ALAS1_ENST00000484952.1_In_Frame_Del_p.QK175del	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	175					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AGGACATCATGCAAAAGCAAAGACCA	0.422													15	133	---	---	---	---					
SUN1	23353	broad.mit.edu	37	7	896032	896032	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr7:896032delC	ENST00000456758.2	+	18	1955	c.1955delC	c.(1954-1956)acafs	p.T652fs	SUN1_ENST00000425407.2_Frame_Shift_Del_p.T380fs|SUN1_ENST00000401592.1_Frame_Shift_Del_p.T463fs|SUN1_ENST00000452783.2_Frame_Shift_Del_p.T360fs|SUN1_ENST00000413514.2_Frame_Shift_Del_p.T261fs|SUN1_ENST00000389574.3_Frame_Shift_Del_p.T380fs|SUN1_ENST00000405266.1_Frame_Shift_Del_p.T500fs			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	490	SUN.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGCAAAAAACAATCAGGTAG	0.418													11	121	---	---	---	---					
SFRP1	6422	broad.mit.edu	37	8	41166638	41166640	+	In_Frame_Del	DEL	GCT	GCT	-	rs3055861		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr8:41166638_41166640delGCT	ENST00000220772.3	-	1	376_378	c.39_41delAGC	c.(37-42)gcagcc>gcc	p.13_14AA>A		NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	13					brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CACGCCCAGGGCTGCCCCGCGGC	0.764													7	3	---	---	---	---					
ROR2	4920	broad.mit.edu	37	9	94486026	94486028	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr9:94486026_94486028delTCC	ENST00000375708.3	-	9	2946_2948	c.2748_2750delGGA	c.(2746-2751)gaggaa>gaa	p.916_917EE>E	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	916					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GACAGAGCCTTCCTCCTCCTCCT	0.645													8	145	---	---	---	---					
CCDC83	220047	broad.mit.edu	37	11	85627263	85627265	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:85627263_85627265delAGA	ENST00000280245.4	+	11	1672_1674	c.1160_1162delAGA	c.(1159-1164)gagaag>gag	p.K388del	CCDC83_ENST00000376067.1_In_Frame_Del_p.K257del|CCDC83_ENST00000342404.3_In_Frame_Del_p.K357del	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	357										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TATGAGGATGAGAAGGATTTCAA	0.335													12	127	---	---	---	---					
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs56022003		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr11:89106662_89106663insA	ENST00000535633.1	-	12	1313		c.e12-2		NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													9	180	---	---	---	---					
LINS	55180	broad.mit.edu	37	15	101109865	101109866	+	Frame_Shift_Del	DEL	AC	AC	-	rs146405261	byFrequency	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr15:101109865_101109866delAC	ENST00000314742.8	-	7	2073_2074	c.1851_1852delGT	c.(1849-1854)ctgtctfs	p.S619fs		NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	619										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						CGGGGGGAAGACAGACTAGAAG	0.530													7	95	---	---	---	---					
RP11-1094M14.11	0	broad.mit.edu	37	17	33900586	33900586	+	RNA	DEL	T	T	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:33900586delT	ENST00000592381.1	+	0	382																											GAAGGCTTTATTTTTTTTCAT	0.373													2	4	---	---	---	---					
CCR7	1236	broad.mit.edu	37	17	38711926	38711927	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:38711926_38711927delAA	ENST00000246657.2	-	3	266_267	c.204_205delTT	c.(202-207)atttgtfs	p.IC68fs	CCR7_ENST00000579344.1_Frame_Shift_Del_p.IC62fs	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	68					cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				CCCACGAAACAAATGATGGAGT	0.495													10	105	---	---	---	---					
TOB1	10140	broad.mit.edu	37	17	48941203	48941206	+	Frame_Shift_Del	DEL	TGTA	TGTA	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:48941203_48941206delTGTA	ENST00000499247.2	-	2	606_609	c.173_176delTACA	c.(172-177)atacacfs	p.IH58fs	TOB1_ENST00000268957.3_Frame_Shift_Del_p.IH58fs|TOB1_ENST00000509385.1_5'UTR	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	58					negative regulation of cell proliferation		SH3/SH2 adaptor activity			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CTCCCCTATGTGTATACATCTAAA	0.417													24	322	---	---	---	---					
RP11-51L5.5	0	broad.mit.edu	37	17	60364144	60364144	+	RNA	DEL	A	A	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr17:60364144delA	ENST00000602493.1	-	0	695																											TAAACCTGGGAGCATATTTTG	0.388													15	112	---	---	---	---					
SNRPB	6628	broad.mit.edu	37	20	2443773	2443773	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr20:2443773delC	ENST00000339610.6	-	6	739	c.284delG	c.(283-285)ggtfs	p.G95fs	SNRPB_ENST00000381342.2_Frame_Shift_Del_p.G174fs|SNRPB_ENST00000438552.2_Frame_Shift_Del_p.G174fs			P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	174					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						TGGGGGAGGACCCCCACGGCC	0.592													12	252	---	---	---	---					
DGCR8	54487	broad.mit.edu	37	22	20082278	20082279	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chr22:20082278_20082279delAG	ENST00000351989.3	+	9	2177_2178	c.1748_1749delAG	c.(1747-1749)cagfs	p.Q583fs	DGCR8_ENST00000407755.1_Frame_Shift_Del_p.Q550fs|DGCR8_ENST00000383024.2_Frame_Shift_Del_p.Q550fs	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	583	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TTTGTTAAACAGACCTCTGAAG	0.550													13	184	---	---	---	---					
POLA1	5422	broad.mit.edu	37	X	24755805	24755805	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	1da60c80-b916-476e-b5f6-ed860171f568	g.chrX:24755805delC	ENST00000379068.3	+	19	2030	c.1987delC	c.(1987-1989)cctfs	p.P663fs	POLA1_ENST00000379059.3_Frame_Shift_Del_p.P657fs			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	657					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	GTGCAAAGCTCCTCACTGGTC	0.353													11	202	---	---	---	---					
LOC101927209	101927209	broad.mit.edu	37	1	142713977	142713977	+	RNA	DEL	T	T	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:142713977delT	ENST00000610091.1	-	0	1681																											ATCCATATACTAAAAAGGTTA	0.294													3	5	---	---	---	---					
ELF3	1999	broad.mit.edu	37	1	201980309	201980309	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:201980309delC	ENST00000359651.3	+	1	3237	c.45delC	c.(43-45)ttcfs	p.F15fs	ELF3_ENST00000367284.5_Frame_Shift_Del_p.F15fs|ELF3_ENST00000495848.1_3'UTR|ELF3_ENST00000367283.3_Frame_Shift_Del_p.F15fs			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	15					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GCAACTACTTCAGTGCGATGT	0.577													54	249	---	---	---	---					
ELF3	1999	broad.mit.edu	37	1	201981483	201981484	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr1:201981483_201981484delTC	ENST00000359651.3	+	3	3589_3590	c.397_398delTC	c.(397-399)tctfs	p.S133fs	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Frame_Shift_Del_p.S133fs|ELF3_ENST00000495848.1_3'UTR|ELF3_ENST00000367283.3_Frame_Shift_Del_p.S133fs			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	133					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						TTCCAGCTCTTCTGATGAGCTC	0.584													9	130	---	---	---	---					
ZBTB47	92999	broad.mit.edu	37	3	42700697	42700699	+	In_Frame_Del	DEL	GAG	GAG	-	rs138358868	by1000genomes	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:42700697_42700699delGAG	ENST00000232974.6	+	2	1131_1133	c.850_852delGAG	c.(850-852)gagdel	p.E294del	ZBTB47_ENST00000505904.1_5'UTR|ZBTB47_ENST00000457842.3_5'UTR			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		ggaggacgacgaggaggaggagg	0.655													5	1	---	---	---	---					
USP4	7375	broad.mit.edu	37	3	49321969	49321971	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:49321969_49321971delTCT	ENST00000351842.4	-	17	2185_2187	c.2177_2179delAGA	c.(2176-2181)aagacc>acc	p.K726del	USP4_ENST00000265560.4_In_Frame_Del_p.K773del	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	773					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GCCACTGTGGTCTTCTTCTTCTT	0.532													9	229	---	---	---	---					
ALAS1	211	broad.mit.edu	37	3	52237973	52237978	+	In_Frame_Del	DEL	GCAAAA	GCAAAA	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr3:52237973_52237978delGCAAAA	ENST00000394965.2	+	5	882_887	c.522_527delGCAAAA	c.(520-528)atgcaaaag>atg	p.QK175del	ALAS1_ENST00000310271.2_In_Frame_Del_p.QK175del|ALAS1_ENST00000469224.1_In_Frame_Del_p.QK175del|ALAS1_ENST00000484952.1_In_Frame_Del_p.QK175del	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	175					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AGGACATCATGCAAAAGCAAAGACCA	0.422													15	133	---	---	---	---					
PKD2	5311	broad.mit.edu	37	4	88986559	88986559	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr4:88986559delA	ENST00000237596.2	+	11	2218	c.2152delA	c.(2152-2154)aaafs	p.K719fs	PKD2_ENST00000502363.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000508588.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000511337.1_3'UTR	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	719	EF-hand domain.					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ACTAAAACTGAAAAAAAATAC	0.383													7	150	---	---	---	---					
SUN1	23353	broad.mit.edu	37	7	896032	896032	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr7:896032delC	ENST00000456758.2	+	18	1955	c.1955delC	c.(1954-1956)acafs	p.T652fs	SUN1_ENST00000401592.1_Frame_Shift_Del_p.T463fs|SUN1_ENST00000425407.2_Frame_Shift_Del_p.T380fs|SUN1_ENST00000405266.1_Frame_Shift_Del_p.T500fs|SUN1_ENST00000413514.2_Frame_Shift_Del_p.T261fs|SUN1_ENST00000452783.2_Frame_Shift_Del_p.T360fs|SUN1_ENST00000389574.3_Frame_Shift_Del_p.T380fs			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	490	SUN.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGCAAAAAACAATCAGGTAG	0.418													11	121	---	---	---	---					
LINC01591	286094	broad.mit.edu	37	8	136251297	136251299	+	RNA	DEL	AGG	AGG	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr8:136251297_136251299delAGG	ENST00000522279.1	+	0	384					NR_026706.1																						aaggaagcaaaggaggaggagga	0.384													2	4	---	---	---	---					
CCDC83	220047	broad.mit.edu	37	11	85627263	85627265	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr11:85627263_85627265delAGA	ENST00000280245.4	+	11	1672_1674	c.1160_1162delAGA	c.(1159-1164)gagaag>gag	p.K388del	CCDC83_ENST00000376067.1_In_Frame_Del_p.K257del|CCDC83_ENST00000342404.3_In_Frame_Del_p.K357del	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	357										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TATGAGGATGAGAAGGATTTCAA	0.335													12	127	---	---	---	---					
LINS	55180	broad.mit.edu	37	15	101109865	101109866	+	Frame_Shift_Del	DEL	AC	AC	-	rs146405261	byFrequency	TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr15:101109865_101109866delAC	ENST00000314742.8	-	7	2073_2074	c.1851_1852delGT	c.(1849-1854)ctgtctfs	p.S619fs		NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	619										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						CGGGGGGAAGACAGACTAGAAG	0.530													7	95	---	---	---	---					
CCR7	1236	broad.mit.edu	37	17	38711926	38711927	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:38711926_38711927delAA	ENST00000246657.2	-	3	266_267	c.204_205delTT	c.(202-207)atttgtfs	p.IC68fs	CCR7_ENST00000579344.1_Frame_Shift_Del_p.IC62fs	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	68					cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				CCCACGAAACAAATGATGGAGT	0.495													10	105	---	---	---	---					
RP11-51L5.5	0	broad.mit.edu	37	17	60364144	60364144	+	RNA	DEL	A	A	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:60364144delA	ENST00000602493.1	-	0	695																											TAAACCTGGGAGCATATTTTG	0.388													15	112	---	---	---	---					
RP13-516M14.2	0	broad.mit.edu	37	17	80173535	80173535	+	RNA	DEL	C	C	-	rs112012232		TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr17:80173535delC	ENST00000581303.1	+	0	1371																											tccttccctgccccccacact	0.701													5	8	---	---	---	---					
CHERP	10523	broad.mit.edu	37	19	16640581	16640583	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr19:16640581_16640583delTGC	ENST00000546361.2	-	8	1156_1158	c.1005_1007delGCA	c.(1003-1008)cagcaa>caa	p.335_336QQ>Q	CHERP_ENST00000198939.6_In_Frame_Del_p.346_347QQ>Q|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	335	Gln-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ctgctgctgttgctgctgctgct	0.670													8	69	---	---	---	---					
SNRPB	6628	broad.mit.edu	37	20	2443773	2443773	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr20:2443773delC	ENST00000339610.6	-	6	739	c.284delG	c.(283-285)ggtfs	p.G95fs	SNRPB_ENST00000381342.2_Frame_Shift_Del_p.G174fs|SNRPB_ENST00000438552.2_Frame_Shift_Del_p.G174fs			P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	174					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						TGGGGGAGGACCCCCACGGCC	0.592													12	252	---	---	---	---					
DGCR8	54487	broad.mit.edu	37	22	20082278	20082279	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chr22:20082278_20082279delAG	ENST00000351989.3	+	9	2177_2178	c.1748_1749delAG	c.(1747-1749)cagfs	p.Q583fs	DGCR8_ENST00000383024.2_Frame_Shift_Del_p.Q550fs|DGCR8_ENST00000407755.1_Frame_Shift_Del_p.Q550fs	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	583	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TTTGTTAAACAGACCTCTGAAG	0.550													13	184	---	---	---	---					
POLA1	5422	broad.mit.edu	37	X	24755805	24755805	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GD-A3OP-01A-21D-A21Z-08	TCGA-GD-A3OP-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e02d723-691a-448c-85e2-4e39a3696ba5	0d3a1395-125c-438a-bb80-8273ca51cd0b	g.chrX:24755805delC	ENST00000379068.3	+	19	2030	c.1987delC	c.(1987-1989)cctfs	p.P663fs	POLA1_ENST00000379059.3_Frame_Shift_Del_p.P657fs			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	657					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	GTGCAAAGCTCCTCACTGGTC	0.353													11	202	---	---	---	---