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
SACS	26278	broad.mit.edu	37	13	23905822	23905822	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr13:23905822T>A	ENST00000382298.3	-	10	12781	c.12193A>T	c.(12193-12195)Att>Ttt	p.I4065F	SACS_ENST00000382292.3_Missense_Mutation_p.I4065F|SACS_ENST00000402364.1_Missense_Mutation_p.I3315F	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4065					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)		CTGTGGGGAATAGGATTAAAA	0.348000													18	24					0	0	1	0	0
ARID3A	1820	broad.mit.edu	37	19	964396	964396	+	Silent	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:964396G>A	ENST00000263620.3	+	5	1242	c.915G>A	c.(913-915)acG>acA	p.T305T		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	305	ARID.					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTGCCCACGTCCATCACCA	0.632000													14	11					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													4	72					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41447099	41447099	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr21:41447099C>A	ENST00000400454.1	-	27	5230	c.4753G>T	c.(4753-4755)Gaa>Taa	p.E1585*		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1585					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTCAGCCCTTCTTCGTTTTGG	0.527000													15	45					0.000422831	0.000432959	1	1	0
ZSCAN4	201516	broad.mit.edu	37	19	58187875	58187875	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:58187875A>T	ENST00000318203.5	+	3	1059	c.362A>T	c.(361-363)gAc>gTc	p.D121V		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	121	SCAN box.				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTCATAGAAGACCTGACTGAT	0.428000													21	50					0	0	1	0	0
EZH1	2145	broad.mit.edu	37	17	40870501	40870501	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:40870501C>T	ENST00000428826.2	-	9	1023	c.902G>A	c.(901-903)cGc>cAc	p.R301H	EZH1_ENST00000585893.1_Missense_Mutation_p.R261H|EZH1_ENST00000592743.1_Missense_Mutation_p.R301H|EZH1_ENST00000415827.2_Missense_Mutation_p.R292H|EZH1_ENST00000590078.1_Missense_Mutation_p.R231H|EZH1_ENST00000435174.1_Missense_Mutation_p.R162H			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	301					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TTTAAAGCAGCGCCGGCAAAA	0.532000													11	53					0	0	1	0	0
TANGO6	79613	broad.mit.edu	37	16	69056866	69056866	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr16:69056866G>A	ENST00000261778.1	+	16	2990	c.2978G>A	c.(2977-2979)gGc>gAc	p.G993D		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		TTTCTGCTGGGCTCCGTGGTC	0.537000													4	15					0	0	1	0	0
MAPK11	5600	broad.mit.edu	37	22	50705586	50705586	+	Silent	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr22:50705586G>A	ENST00000330651.6	-	6	565	c.465C>T	c.(463-465)aaC>aaT	p.N155N	MAPK11_ENST00000495277.1_5'UTR|MAPK11_ENST00000449719.2_Silent_p.N47N	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	155	Protein kinase.				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|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	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCACAGCCACGTTGCTGGGCT	0.697000													3	32					0	0	1	0	0
ZDHHC11	79844	broad.mit.edu	37	5	840588	840588	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr5:840588G>A	ENST00000511539.1	-	2	271	c.167C>T	c.(166-168)cCc>cTc	p.P56L	ZDHHC11_ENST00000424784.2_Intron|ZDHHC11_ENST00000283441.8_Intron|ZDHHC11_ENST00000503758.2_Intron			Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	0						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GGGGGATCGGGGGCTTAGGGT	0.592000													21	172					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137753297	137753297	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr5:137753297C>A	ENST00000314358.5	+	13	3633	c.3433C>A	c.(3433-3435)Cag>Aag	p.Q1145K	KDM3B_ENST00000394866.1_Missense_Mutation_p.Q801K|KDM3B_ENST00000542866.1_Missense_Mutation_p.Q177K	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1145					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TGGGATGTCACAGGTAAACTG	0.463000													20	71					3.51602e-12	4.09006e-12	1	1	0
AKAP9	10142	broad.mit.edu	37	7	91672001	91672001	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:91672001G>T	ENST00000359028.2	+	21	5339	c.5114G>T	c.(5113-5115)gGa>gTa	p.G1705V	AKAP9_ENST00000358100.2_Missense_Mutation_p.G1705V|AKAP9_ENST00000356239.3_Missense_Mutation_p.G1693V			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1705					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAAAACCAAGGAGAAGTTGAA	0.343000			T	BRAF	papillary thyroid								24	30					1.85244e-09	2.084e-09	1	1	0
KRTAP5-1	387264	broad.mit.edu	37	11	1606142	1606142	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr11:1606142C>A	ENST00000382171.2	-	1	371	c.338G>T	c.(337-339)gGg>gTg	p.G113V	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	113	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTTGGATCCCCCACAAGAGCC	0.662000													32	144					1.04352e-10	1.19759e-10	1	1	0
NECAB3	63941	broad.mit.edu	37	20	32246615	32246615	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr20:32246615A>C	ENST00000246190.6	-	9	960	c.905T>G	c.(904-906)gTc>gGc	p.V302G	NECAB3_ENST00000606525.1_5'UTR|NECAB3_ENST00000375238.4_Missense_Mutation_p.V268G	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	302					antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding	p.V302G(1)		large_intestine(3)|lung(5)|skin(2)	10						TGCCACCTGGACCTGCCTCTG	0.672000													6	13					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43182962	43182962	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr6:43182962G>A	ENST00000252050.4	+	30	5918	c.5834G>A	c.(5833-5835)cGg>cAg	p.R1945Q	CUL9_ENST00000354495.3_Missense_Mutation_p.R1835Q|CUL9_ENST00000372647.2_Missense_Mutation_p.R1917Q|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1945					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CGTGATGACCGGCCCCAGATC	0.622000													4	113					0	0	1	0	0
CEP112	201134	broad.mit.edu	37	17	64128831	64128831	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:64128831G>A	ENST00000392769.2	-	5	739	c.521C>T	c.(520-522)cCa>cTa	p.P174L	CEP112_ENST00000535342.2_Missense_Mutation_p.P174L|CEP112_ENST00000537949.1_Missense_Mutation_p.P174L	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	174						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TCTGTGAGTTGGACTCAAGGA	0.383000													6	29					0	0	1	0	0
IL20RA	53832	broad.mit.edu	37	6	137325845	137325845	+	Silent	SNP	T	T	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr6:137325845T>A	ENST00000367748.1	-	5	1030	c.444A>T	c.(442-444)gtA>gtT	p.V148V	IL20RA_ENST00000541547.1_Silent_p.V210V|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000316649.5_Silent_p.V259V			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	259	Fibronectin type-III 2.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CGGTAATAGATACGGGCAAAA	0.388000													54	115					0	0	1	0	0
KIF5C	3800	broad.mit.edu	37	2	149847618	149847618	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:149847618G>A	ENST00000435030.1	+	16	2179	c.1811G>A	c.(1810-1812)cGc>cAc	p.R604H	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.R509H|KIF5C_ENST00000397413.1_Missense_Mutation_p.R372H			O60282	KIF5C_HUMAN	kinesin family member 5C	604					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CTGGTGAACCGCAGCAAACAG	0.577000													7	23					0	0	1	0	0
OSBPL2	9885	broad.mit.edu	37	20	60856119	60856119	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr20:60856119A>G	ENST00000313733.3	+	8	882	c.680A>G	c.(679-681)aAt>aGt	p.N227S	OSBPL2_ENST00000358053.2_Missense_Mutation_p.N215S|OSBPL2_ENST00000439951.2_Missense_Mutation_p.N135S	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	227					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			CACAGACATAATGAAGCCTAC	0.537000													45	144					0	0	1	0	0
TRBV9	28586	broad.mit.edu	37	7	142239700	142239700	+	RNA	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:142239700C>T	ENST00000390363.2	-	0	226																											ACTGGAGGCCCTGGTCCAGGC	0.507000													20	38					0	0	1	0	0
CAPN15	6650	broad.mit.edu	37	16	597220	597220	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr16:597220G>A	ENST00000219611.2	+	4	745	c.382G>A	c.(382-384)Gag>Aag	p.E128K	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15																		ggacaaggacgaggaggagaa	0.716000													3	7					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131181242	131181242	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr8:131181242T>C	ENST00000357668.1	-	9	845	c.818A>G	c.(817-819)tAt>tGt	p.Y273C	ASAP1_ENST00000518721.1_Missense_Mutation_p.Y273C			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	273					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						ACTTACATTATATAAATCAGC	0.284000													18	30					0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46316909	46316909	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr12:46316909T>C	ENST00000465950.1	-	3	4199	c.2990A>G	c.(2989-2991)aAt>aGt	p.N997S	SCAF11_ENST00000550629.1_5'UTR|SCAF11_ENST00000369367.3_Missense_Mutation_p.N1312S|SCAF11_ENST00000549162.1_Missense_Mutation_p.N1120S|SCAF11_ENST00000419565.2_Missense_Mutation_p.N1312S			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1312					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						ACTCATGTTATTACTTACATG	0.398000													28	101					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9525046	9525046	+	Silent	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr20:9525046C>T	ENST00000378429.3	-	9	2385	c.1839G>A	c.(1837-1839)gaG>gaA	p.E613E	PAK7_ENST00000353224.5_Silent_p.E613E|PAK7_ENST00000378423.1_Silent_p.E613E	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	613	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TAGAAATCACCTCAGGGGCCA	0.507000													13	154					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415896	105415896	+	Silent	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr14:105415896C>T	ENST00000333244.5	-	7	6011	c.5892G>A	c.(5890-5892)aaG>aaA	p.K1964K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1964						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACCATCCAGCTTAGCCTTCT	0.592000													155	352					0	0	1	0	0
IFT43	112752	broad.mit.edu	37	14	76488695	76488695	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr14:76488695G>A	ENST00000556742.1	+	3	176	c.173G>A	c.(172-174)tGc>tAc	p.C58Y	IFT43_ENST00000314067.6_Missense_Mutation_p.C58Y|IFT43_ENST00000553338.1_3'UTR|IFT43_ENST00000238628.6_Missense_Mutation_p.C58Y	NM_001255995.1	NP_001242924.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43 homolog (Chlamydomonas)	58					cilium morphogenesis|intraflagellar retrograde transport					endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TTACCTCGCTGCCGACAGGGA	0.443000													71	104					0	0	1	0	0
PRKAR1B	5575	broad.mit.edu	37	7	647052	647052	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:647052C>T	ENST00000406797.1	-	5	652	c.478G>A	c.(478-480)Gct>Act	p.A160T	PRKAR1B_ENST00000403562.1_Missense_Mutation_p.A160T|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.A160T|AC147651.4_ENST00000429872.1_RNA|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.A160T|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.A160T	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	160					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		GTCTCCCCAGCGATGTGAGTG	0.468000													4	66					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31590677	31590677	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr14:31590677C>A	ENST00000399332.1	-	28	5638	c.5150G>T	c.(5149-5151)gGc>gTc	p.G1717V	HECTD1_ENST00000553700.1_Missense_Mutation_p.G1717V	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1717					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGAGCGGGAGCCAGCTCGACG	0.498000													25	60					1.17739e-12	1.38851e-12	1	1	0
ESYT3	83850	broad.mit.edu	37	3	138183305	138183305	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr3:138183305G>A	ENST00000389567.4	+	9	1220	c.1034G>A	c.(1033-1035)cGg>cAg	p.R345Q		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	345	C2 1.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CAGCATTTCCGGAGTAGGACC	0.562000													4	79					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													3	20					0.004672	0.00472729	1	1	0
TP53	7157	broad.mit.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	rs121912654		TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:7578461C>A	ENST00000420246.2	-	5	601	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000269305.4_Missense_Mutation_p.V157F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	157	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGCGCGGACGCGGGTGCCG	0.617000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			50	32					5.76465e-13	6.84552e-13	1	1	0
CCDC89	220388	broad.mit.edu	37	11	85396727	85396727	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr11:85396727C>A	ENST00000316398.3	-	1	593	c.447G>T	c.(445-447)aaG>aaT	p.K149N		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	149						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CCTCCCTCAGCTTGATGTTCT	0.507000													45	84					8.05343e-35	9.97925e-35	1	1	0
PTP4A2	8073	broad.mit.edu	37	1	32381528	32381528	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr1:32381528C>T	ENST00000344035.6	-	3	1150	c.157G>A	c.(157-159)Gct>Act	p.A53T	PTP4A2_ENST00000602725.1_Missense_Mutation_p.A53T|PTP4A2_ENST00000457805.2_Intron|PTP4A2_ENST00000356536.3_Missense_Mutation_p.A53T|RP11-84A19.4_ENST00000602889.1_lincRNA|PTP4A2_ENST00000470404.1_Missense_Mutation_p.A53T	NM_080391.3	NP_536316.1	Q12974	TP4A2_HUMAN	protein tyrosine phosphatase type IVA, member 2	53				A -> D (in Ref. 9; AAB59575).		early endosome|plasma membrane	prenylated protein tyrosine phosphatase activity|protein binding|protein tyrosine/serine/threonine phosphatase activity			kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)				TCAACTGGAGCTTTATCATAT	0.279000													3	38					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96782897	96782897	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr14:96782897A>G	ENST00000359933.4	-	21	4227	c.3334T>C	c.(3334-3336)Tct>Cct	p.S1112P		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1112										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AAACTGCTAGAATGAAGGCAA	0.333000													12	49					0	0	1	0	0
MOGAT2	80168	broad.mit.edu	37	11	75439906	75439906	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr11:75439906C>T	ENST00000526712.1	+	4	1249	c.476C>T	c.(475-477)tCc>tTc	p.S159F	MOGAT2_ENST00000198801.5_Missense_Mutation_p.S241F			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	241					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TCTTCTGGCTCCTGGTTACGC	0.502000													25	98					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31572142	31572142	+	Silent	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr14:31572142C>T	ENST00000399332.1	-	41	8018	c.7530G>A	c.(7528-7530)aaG>aaA	p.K2510K	HECTD1_ENST00000553700.1_Silent_p.K2510K	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2510	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TATAACCCAGCTTAGGTTCAG	0.358000													24	99					0	0	1	0	0
FBLN7	129804	broad.mit.edu	37	2	112942821	112942821	+	Silent	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:112942821G>A	ENST00000331203.2	+	7	1123	c.852G>A	c.(850-852)ggG>ggA	p.G284G	FBLN7_ENST00000409450.3_Silent_p.G238G|FBLN7_ENST00000409903.1_Silent_p.G284G|FBLN7_ENST00000409667.3_Silent_p.G150G	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	284	EGF-like 3; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GCCCCCAGGGGACCACATGCA	0.577000													28	93					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087380	92087380	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr11:92087380A>C	ENST00000298047.6	+	1	2119	c.2102A>C	c.(2101-2103)aAa>aCa	p.K701T	FAT3_ENST00000409404.2_Missense_Mutation_p.K701T|FAT3_ENST00000541502.1_Missense_Mutation_p.K701T|FAT3_ENST00000525166.1_Missense_Mutation_p.K551T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	701					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTAAGGCAAAAGCAAATGGG	0.393000										TCGA Ovarian(4;0.039)			36	95					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537873	55537873	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr8:55537873G>T	ENST00000220676.1	+	4	1579	c.1431G>T	c.(1429-1431)gaG>gaT	p.E477D		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	477					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGGTTCAAGAGAAAATGATTG	0.388000													14	62					4.7546e-09	5.31397e-09	1	1	0
DPF2	5977	broad.mit.edu	37	11	65116374	65116374	+	Silent	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr11:65116374C>T	ENST00000528416.1	+	10	1204	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	DPF2_ENST00000252268.4_Silent_p.L371L|DPF2_ENST00000415073.2_Silent_p.L173L	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	357					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						TGTACTGTCTCACCCCGTCCA	0.458000													12	71					0	0	1	0	0
C3orf58	205428	broad.mit.edu	37	3	143708394	143708394	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr3:143708394A>T	ENST00000315691.3	+	3	1539	c.1004A>T	c.(1003-1005)gAt>gTt	p.D335V	C3orf58_ENST00000441925.2_Missense_Mutation_p.D97V|C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000495414.1_Missense_Mutation_p.D126V	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	335						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGCAAGTTTGATGACTGTGAT	0.348000													17	39					0	0	1	0	0
NEK8	284086	broad.mit.edu	37	17	27068430	27068430	+	Splice_Site	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:27068430G>A	ENST00000268766.6	+	14	1925		c.e14-1		AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8							cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CTTCCTGGCAGAGAGCGAAGT	0.622000													7	27					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39751240	39751240	+	Splice_Site	SNP	C	C	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr12:39751240C>A	ENST00000395670.3	-	9	1635		c.e9-1		KIF21A_ENST00000361961.3_Splice_Site|KIF21A_ENST00000361418.5_Splice_Site|KIF21A_ENST00000541463.2_Splice_Site|KIF21A_ENST00000544797.2_Splice_Site			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTCTTTTACCCTAGTAAAGGA	0.353000													12	38					2.61681e-11	3.02348e-11	1	1	0
HOXD8	3234	broad.mit.edu	37	2	176995356	176995356	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:176995356G>A	ENST00000313173.4	+	1	889	c.262G>A	c.(262-264)Ggc>Agc	p.G88S	HOXD8_ENST00000548663.1_Intron|HOXD8_ENST00000450510.2_Missense_Mutation_p.G88S|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000544999.1_Missense_Mutation_p.G88S|HOXD8_ENST00000429017.1_Intron	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	88					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CGGTAGGGAAGGCCGGGGCCA	0.801000													13	30					0	0	1	0	0
OR13D1	286365	broad.mit.edu	37	9	107457357	107457357	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr9:107457357C>G	ENST00000318763.5	+	1	698	c.655C>G	c.(655-657)Ctt>Gtt	p.L219V		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						CCTTCTAAAACTTGTTTGTTC	0.358000													18	116					0	0	1	0	0
CHN2	1124	broad.mit.edu	37	7	29438072	29438072	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:29438072G>A	ENST00000222792.6	+	5	790	c.260G>A	c.(259-261)cGg>cAg	p.R87Q	CHN2_ENST00000435288.2_Missense_Mutation_p.R87Q|CHN2_ENST00000539389.1_Intron|CHN2_ENST00000539406.1_Missense_Mutation_p.R162Q|CHN2_ENST00000546235.1_Missense_Mutation_p.R72Q|CHN2_ENST00000495789.2_Missense_Mutation_p.R100Q	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	87	SH2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GAAAGCCAGCGGCAACCAGGA	0.512000													19	60					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104948826	104948826	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr8:104948826C>T	ENST00000507740.1	+	10	2035	c.1799C>T	c.(1798-1800)cCc>cTc	p.P600L	RIMS2_ENST00000406091.3_Missense_Mutation_p.P808L|RIMS2_ENST00000436393.2_Missense_Mutation_p.P586L|RIMS2_ENST00000262231.10_Missense_Mutation_p.P647L	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	870					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACATTGGAACCCAAATGGAAC	0.358000										HNSCC(12;0.0054)			15	58					0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68607936	68607936	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:68607936C>T	ENST00000234313.7	+	3	459	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	94	PH 1.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		TGCCTGGGTTCGGGATATCAA	0.468000													23	163					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40368659	40368659	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:40368659A>G	ENST00000221347.6	-	28	12696	c.12689T>C	c.(12688-12690)tTc>tCc	p.F4230S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4230	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCATTAGGGAAGACCTGGTC	0.637000													14	168					0	0	1	0	0
RBM33	155435	broad.mit.edu	37	7	155534530	155534530	+	Silent	SNP	T	T	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:155534530T>C	ENST00000401878.3	+	13	2265	c.2067T>C	c.(2065-2067)aaT>aaC	p.N689N		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	689							nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CTTCTCAGAATGTAAGCAAGC	0.408000													68	82					0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207104874	207104874	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr1:207104874T>C	ENST00000356495.4	-	10	2350	c.2167A>G	c.(2167-2169)Aca>Gca	p.T723A	PIGR_ENST00000487208.1_5'UTR	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	723						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TTGGTCTCTGTGGTGCTCTCA	0.483000													21	103					0	0	1	0	0
IRX4	50805	broad.mit.edu	37	5	1878823	1878823	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr5:1878823C>A	ENST00000505790.1	-	6	1276	c.820G>T	c.(820-822)Gag>Tag	p.E274*	IRX4_ENST00000513692.1_Nonsense_Mutation_p.E274*|IRX4_ENST00000231357.2_Nonsense_Mutation_p.E274*	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	274					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GGCTTCAGCTCGCACGCCGGC	0.697000													8	26					0.000157383	0.000164101	1	1	0
ACTN3	89	broad.mit.edu	37	11	66322613	66322613	+	RNA	SNP	C	C	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr11:66322613C>A	ENST00000502692.1	+	0	815				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						GGAAGGATGGCCTGGCCCTCT	0.662000													4	44					0.00024832	0.0002558	1	1	0
BCKDK	10295	broad.mit.edu	37	16	31121723	31121723	+	Splice_Site	SNP	A	A	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr16:31121723A>T	ENST00000394951.1	+	8	1168	c.543_splice	c.e8-1	p.D182_splice	BCKDK_ENST00000219794.6_Splice_Site_p.D182_splice|BCKDK_ENST00000287507.3_Splice_Site_p.D182_splice|BCKDK_ENST00000394950.3_Splice_Site_p.D182_splice			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	182	Histidine kinase.				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						TCTTTACAGGATGAAAAGCTC	0.587000													25	71					0	0	1	0	0
PODXL2	50512	broad.mit.edu	37	3	127379826	127379826	+	Missense_Mutation	SNP	G	G	A	rs35388535	byFrequency	TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr3:127379826G>A	ENST00000342480.6	+	3	994	c.955G>A	c.(955-957)Gag>Aag	p.E319K		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	319					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CAGTGGGGCCGAGCACCCAGA	0.602000													25	74					0	0	1	0	0
PEX3	8504	broad.mit.edu	37	6	143810326	143810326	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr6:143810326A>C	ENST00000367591.4	+	12	1148	c.1085A>C	c.(1084-1086)tAt>tCt	p.Y362S	RP1-20N2.6_ENST00000591892.1_RNA	NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	362					protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		GCTAATGTGTATGAAGCTTTT	0.328000													15	62					0	0	1	0	0
ORAI1	84876	broad.mit.edu	37	12	122079278	122079278	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr12:122079278C>A	ENST00000330079.7	+	2	834	c.641C>A	c.(640-642)aCc>aAc	p.T214N		NM_032790.3	NP_116179.2	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	212					platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		CCAAGGCCCACCAGCAAGCCC	0.667000													11	44					9.70103e-10	1.09859e-09	1	1	0
MYH4	4622	broad.mit.edu	37	17	10356159	10356159	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:10356159C>T	ENST00000255381.2	-	25	3312	c.3202G>A	c.(3202-3204)Gaa>Aaa	p.E1068K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1068					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						ATTGTGGATTCTTGGGCCAAT	0.358000													23	100					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125367399	125367399	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:125367399A>T	ENST00000431078.1	+	12	2139	c.1775A>T	c.(1774-1776)gAg>gTg	p.E592V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	592	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CAATCCTGCGAGGTGTACAGG	0.512000													39	77					0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111850481	111850481	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:111850481C>T	ENST00000389811.4	+	18	1794	c.1570C>T	c.(1570-1572)Cgg>Tgg	p.R524W	ACOXL_ENST00000439055.1_Missense_Mutation_p.R494W			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	524					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GTTTCAGGAGCGGGCCTGGTA	0.423000													27	69					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25450670	25450670	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr20:25450670G>A	ENST00000278886.6	-	18	3383	c.3310C>T	c.(3310-3312)Cgg>Tgg	p.R1104W	NINL_ENST00000422516.1_Missense_Mutation_p.R755W	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1104					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						AGCTCTTGCCGAACCCTTCCC	0.507000													34	178					0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27442319	27442319	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr3:27442319A>G	ENST00000295736.5	-	16	2406	c.2336T>C	c.(2335-2337)cTa>cCa	p.L779P	SLC4A7_ENST00000455077.1_Missense_Mutation_p.L660P|SLC4A7_ENST00000446700.1_Missense_Mutation_p.L771P|SLC4A7_ENST00000437179.1_Missense_Mutation_p.L660P|SLC4A7_ENST00000388777.4_Missense_Mutation_p.L329P|SLC4A7_ENST00000428386.1_Missense_Mutation_p.L655P|SLC4A7_ENST00000435667.2_Missense_Mutation_p.L664P|SLC4A7_ENST00000454389.1_Missense_Mutation_p.L788P|SLC4A7_ENST00000445684.1_Missense_Mutation_p.L775P|SLC4A7_ENST00000440156.1_Missense_Mutation_p.L775P|SLC4A7_ENST00000425128.2_3'UTR	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	779						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						CCATTGTGCTAGAGTTTCATT	0.328000													18	39					0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62856536	62856536	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:62856536G>A	ENST00000584306.1	-	11	4258	c.3728C>T	c.(3727-3729)gCa>gTa	p.A1243V	LRRC37A3_ENST00000334962.5_Missense_Mutation_p.A220V|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.A281V|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.A361V|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.A1243V	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1243						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGAGACTGCTGCCTTATGCTC	0.567000													33	80					0	0	1	0	0
A4GALT	53947	broad.mit.edu	37	22	43089136	43089136	+	Silent	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr22:43089136G>A	ENST00000401850.1	-	2	1311	c.822C>T	c.(820-822)cgC>cgT	p.R274R	A4GALT_ENST00000249005.2_Silent_p.R274R|A4GALT_ENST00000381278.3_Silent_p.R274R			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	274					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity	p.R274R(1)		NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						TGGTGACGCCGCGGCAGGCGC	0.667000													5	17					0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070687	141070687	+	RNA	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr9:141070687C>T	ENST00000503395.1	+	0	1462																											ACAACTGGGCCAAGGGACGCT	0.577000													4	18					0	0	1	0	0
PAK3	5063	broad.mit.edu	37	X	110406906	110406906	+	Silent	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chrX:110406906G>A	ENST00000519681.1	+	11	1222	c.780G>A	c.(778-780)cgG>cgA	p.R260R	PAK3_ENST00000446737.1_Silent_p.R239R|PAK3_ENST00000425146.1_Silent_p.R239R|PAK3_ENST00000262836.4_Silent_p.R254R|PAK3_ENST00000372007.4_Silent_p.R239R|PAK3_ENST00000372010.1_Silent_p.R254R|PAK3_ENST00000417227.1_Silent_p.R260R|PAK3_ENST00000518291.1_Silent_p.R275R|PAK3_ENST00000360648.4_Silent_p.R275R			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	254	Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						ACACAGATCGGCAAAGAAAAA	0.418000										TSP Lung(19;0.15)			23	58					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91873684	91873684	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chrX:91873684G>T	ENST00000373094.1	+	7	4634	c.3789G>T	c.(3787-3789)caG>caT	p.Q1263H	PCDH11X_ENST00000361655.2_Missense_Mutation_p.Q1245H|PCDH11X_ENST00000298274.8_Missense_Mutation_p.Q1226H|PCDH11X_ENST00000373088.1_Missense_Mutation_p.Q1226H|PCDH11X_ENST00000373097.1_Missense_Mutation_p.Q1253H|PCDH11X_ENST00000406881.1_Missense_Mutation_p.Q1255H|PCDH11X_ENST00000504220.1_3'UTR	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1263					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTCTGCCACAGGTTATTGCCC	0.567000													82	66					1.8615e-32	2.29005e-32	1	1	0
MAGEE2	139599	broad.mit.edu	37	X	75004845	75004845	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chrX:75004845C>G	ENST00000373359.2	-	1	234	c.42G>C	c.(40-42)gaG>gaC	p.E14D		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	14										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						CTGCAGTGATCTCTGCGCTAC	0.592000													20	21					0	0	1	0	0
LENG9	94059	broad.mit.edu	37	19	54973894	54973894	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:54973894T>A	ENST00000333834.4	-	1	1000	c.882A>T	c.(880-882)gaA>gaT	p.E294D		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	294					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CCCACTCGGCTTCTGTCGTCT	0.662000													11	67					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152841661	152841661	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr6:152841661C>T	ENST00000367255.5	-	6	843	c.242G>A	c.(241-243)cGc>cAc	p.R81H	SYNE1_ENST00000413186.2_Missense_Mutation_p.R81H|SYNE1_ENST00000367253.4_Missense_Mutation_p.R81H|SYNE1_ENST00000466159.2_Missense_Mutation_p.R81H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R81H|SYNE1_ENST00000423061.1_Missense_Mutation_p.R81H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R81H|SYNE1_ENST00000341594.5_Missense_Mutation_p.R81H|SYNE1_ENST00000367248.3_Missense_Mutation_p.R81H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	81	Actin-binding.|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTCATCCGGCGTCCTTGTTC	0.388000										HNSCC(10;0.0054)			9	89					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169526091	169526091	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr1:169526091C>A	ENST00000367796.3	-	6	946	c.745G>T	c.(745-747)Gcc>Tcc	p.A249S	F5_ENST00000546081.1_Missense_Mutation_p.A112S|F5_ENST00000367797.3_Missense_Mutation_p.A249S			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	249	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGGTCATGGGCACAAACTGTT	0.463000													14	23					1.5842e-08	1.74773e-08	1	1	0
EPB41L2	2037	broad.mit.edu	37	6	131184794	131184794	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr6:131184794T>A	ENST00000337057.3	-	18	3075	c.2894A>T	c.(2893-2895)gAt>gTt	p.D965V	EPB41L2_ENST00000530481.1_Missense_Mutation_p.D812V|EPB41L2_ENST00000525193.1_Missense_Mutation_p.D666V|EPB41L2_ENST00000445890.2_Missense_Mutation_p.D707V|EPB41L2_ENST00000524581.1_Missense_Mutation_p.D343V|EPB41L2_ENST00000529208.1_Missense_Mutation_p.D895V|EPB41L2_ENST00000368128.2_Missense_Mutation_p.D965V|EPB41L2_ENST00000528282.1_Missense_Mutation_p.D707V|EPB41L2_ENST00000527659.1_Missense_Mutation_p.D771V|EPB41L2_ENST00000527411.1_Missense_Mutation_p.D895V|EPB41L2_ENST00000530757.1_Missense_Mutation_p.D161V|EPB41L2_ENST00000531410.1_Missense_Mutation_p.D86V|EPB41L2_ENST00000525271.1_Missense_Mutation_p.D633V|EPB41L2_ENST00000392427.3_Missense_Mutation_p.D633V	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	965	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ATGATCAATATCTCCATCTCC	0.358000													4	36					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1103214	1103214	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr11:1103214A>G	ENST00000441003.2	+	46	7991	c.7964A>G	c.(7963-7965)aAg>aGg	p.K2655R		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5017						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGCGACCCGAAGAACAACTGC	0.607000													16	95					0	0	1	0	0
GRIN3B	116444	broad.mit.edu	37	19	1007862	1007862	+	Missense_Mutation	SNP	C	C	G	rs144432988	byFrequency	TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:1007862C>G	ENST00000234389.3	+	5	2225	c.2206C>G	c.(2206-2208)Ccc>Gcc	p.P736A		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	736					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CAGGAGCGACCCCCCCAAGCT	0.711000													8	29					0	0	1	0	0
VASH1	22846	broad.mit.edu	37	14	77229171	77229171	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr14:77229171G>C	ENST00000167106.4	+	1	640	c.7G>C	c.(7-9)Ggg>Cgg	p.G3R	VASH1_ENST00000554237.1_Missense_Mutation_p.G3R	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	3					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		AGGGATGCCAGGGGGGAAGAA	0.647000													3	13					0	0	1	0	0
PSEN2	5664	broad.mit.edu	37	1	227071565	227071565	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr1:227071565G>A	ENST00000366782.1	+	5	900	c.400G>A	c.(400-402)Gtg>Atg	p.V134M	PSEN2_ENST00000391872.2_Missense_Mutation_p.V134M|PSEN2_ENST00000340188.4_Missense_Mutation_p.V101M|PSEN2_ENST00000366783.3_Missense_Mutation_p.V101M|PSEN2_ENST00000422240.2_Missense_Mutation_p.V101M			P49810	PSN2_HUMAN	presenilin 2 (Alzheimer disease 4)	101					amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				GTGCATGATCGTGGTGGTAGC	0.602000													40	105					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151935847	151935847	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:151935847C>T	ENST00000355193.2	-	15	2815	c.2597G>A	c.(2596-2598)cGg>cAg	p.R866Q	KMT2C_ENST00000262189.6_Missense_Mutation_p.R866Q					lysine (K)-specific methyltransferase 2C																		AAAAATTTCCCGACCTTCTGA	0.418000													5	95					0	0	1	0	0
BRF1	2972	broad.mit.edu	37	14	105677625	105677625	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr14:105677625C>A	ENST00000546474.1	-	17	16789	c.1830G>T	c.(1828-1830)ttG>ttT	p.L610F	BRF1_ENST00000440513.3_Missense_Mutation_p.L517F|BRF1_ENST00000547530.1_Missense_Mutation_p.L136F|BRF1_ENST00000379937.2_Missense_Mutation_p.L583F|BRF1_ENST00000327359.3_Missense_Mutation_p.L495F|BRF1_ENST00000446501.2_Missense_Mutation_p.L372F|BRF1_ENST00000392557.4_Missense_Mutation_p.L406F|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000551787.1_Intron	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	610					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)		AGCTTGGGAGCAAAGCCTGGA	0.657000													5	46					0.00116845	0.00118931	1	1	0
ORC4	5000	broad.mit.edu	37	2	148705676	148705676	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:148705676G>T	ENST00000535373.1	-	10	1138	c.706C>A	c.(706-708)Cta>Ata	p.L236I	ORC4_ENST00000392857.4_Missense_Mutation_p.L236I|ORC4_ENST00000392858.1_Missense_Mutation_p.L236I|ORC4_ENST00000264169.2_Missense_Mutation_p.L236I|ORC4_ENST00000542387.1_Missense_Mutation_p.L19I|ORC4_ENST00000540442.1_Missense_Mutation_p.L162I|ORC4_ENST00000536575.1_Missense_Mutation_p.L152I	NM_001190879.2	NP_001177808.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	236					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						TCTGCAGGTAGAGATAACTGT	0.333000													19	36					3.51602e-12	4.09006e-12	1	1	0
ISYNA1	51477	broad.mit.edu	37	19	18545850	18545850	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:18545850C>T	ENST00000545187.1	-	8	1386	c.1100G>A	c.(1099-1101)cGa>cAa	p.R367Q	ISYNA1_ENST00000317018.6_Missense_Mutation_p.R315Q|ISYNA1_ENST00000457269.3_Missense_Mutation_p.R463Q|ISYNA1_ENST00000578963.1_Missense_Mutation_p.R389Q|ISYNA1_ENST00000338128.7_Missense_Mutation_p.R517Q			Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	517					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						GGGTCCAACTCGCTTGAGGCT	0.612000													26	114					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215838749	215838749	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:215838749T>C	ENST00000272895.7	-	36	5705	c.5486A>G	c.(5485-5487)gAc>gGc	p.D1829G	ABCA12_ENST00000389661.4_Missense_Mutation_p.D1511G	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1829					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTCCAGACTGTCTTTGTTTAA	0.373000													7	35					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78452894	78452894	+	Splice_Site	SNP	A	A	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr12:78452894A>T	ENST00000397909.2	+	12	2808	c.2636_splice	c.e12+1	p.S879_splice	NAV3_ENST00000228327.6_Splice_Site_p.S879_splice|NAV3_ENST00000266692.7_Splice_Site_p.S879_splice|NAV3_ENST00000536525.2_Splice_Site_p.S879_splice|RP11-136F16.1_ENST00000549103.1_RNA			Q8IVL0	NAV3_HUMAN	neuron navigator 3	879						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						GGATGCAGACAGGTAATGCTA	0.383000										HNSCC(70;0.22)			15	31					0	0	1	0	0
NTSR2	23620	broad.mit.edu	37	2	11802117	11802117	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:11802117G>A	ENST00000306928.5	-	2	908	c.874C>T	c.(874-876)Ctc>Ttc	p.L292F		NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN	neurotensin receptor 2	292					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	CTGCGCTGGAGGCTGCGGATC	0.582000													43	109					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	83635736	83635736	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr10:83635736G>T	ENST00000404547.1	+	1	640	c.640G>T	c.(640-642)Gga>Tga	p.G214*	NRG3_ENST00000372141.2_Nonsense_Mutation_p.G214*			P56975	NRG3_HUMAN	neuregulin 3	214	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CCCGGTGCCAGGAACTCCAAG	0.647000													8	40					5.18039e-06	5.50215e-06	1	1	0
CHEK2P2	646096	broad.mit.edu	37	15	20490523	20490523	+	RNA	SNP	G	G	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr15:20490523G>C	ENST00000555186.1	+	0	503					NR_038836.1																						TTGTCAAGAAGTTGTTGGTAG	0.428000													20	327					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94463633	94463633	+	Silent	SNP	G	G	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr1:94463633G>T	ENST00000370225.3	-	48	6599	c.6513C>A	c.(6511-6513)atC>atA	p.I2171I	ABCA4_ENST00000536513.1_Silent_p.I441I|ABCA4_ENST00000535881.1_Silent_p.I290I	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2171					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCGGGGATTTGATCTTCATTG	0.517000													21	43					9.95505e-16	1.19881e-15	1	1	0
AKAP12	9590	broad.mit.edu	37	6	151671464	151671464	+	Silent	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr6:151671464C>T	ENST00000402676.2	+	4	2178	c.1938C>T	c.(1936-1938)acC>acT	p.T646T	AKAP12_ENST00000253332.1_Silent_p.T646T|AKAP12_ENST00000354675.6_Silent_p.T548T|AKAP12_ENST00000359755.5_Silent_p.T541T	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	646					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TGTCTTCCACCGAGAGCACAG	0.502000													3	50					0	0	1	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047708	46047708	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr21:46047708C>G	ENST00000397911.3	+	1	669	c.620C>G	c.(619-621)tCt>tGt	p.S207C	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	207	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GGGGCTTCCTCTTTGTGCTGC	0.627000													139	253					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56481609	56481609	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr12:56481609A>G	ENST00000267101.3	+	6	1084	c.644A>G	c.(643-645)aAt>aGt	p.N215S	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.N156S	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	215					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCTCAGTGTAATGGTCACTGC	0.552000													33	80					0	0	1	0	0
RNF133	168433	broad.mit.edu	37	7	122338281	122338281	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:122338281T>C	ENST00000340112.2	-	1	929	c.692A>G	c.(691-693)cAg>cGg	p.Q231R	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	231						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						AAATGTGTTCTGAAGATCTGT	0.388000													36	70					0	0	1	0	0
ZNF655	79027	broad.mit.edu	37	7	99170042	99170042	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:99170042G>A	ENST00000424881.1	+	4	636	c.416G>A	c.(415-417)aGg>aAg	p.R139K	ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000394163.2_Missense_Mutation_p.R104K|ZNF655_ENST00000252713.4_Missense_Mutation_p.R104K|ZNF655_ENST00000493277.1_Missense_Mutation_p.R139K	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	104					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					GAAATTCTAAGGAAATTTCTG	0.398000													6	60					0	0	1	0	0
KHDRBS1	10657	broad.mit.edu	37	1	32503572	32503572	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr1:32503572C>T	ENST00000327300.7	+	6	1209	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W	KHDRBS1_ENST00000492989.1_Missense_Mutation_p.R309W|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	348	Pro-rich.				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCAAGAGCACGGACAGCGGG	0.542000													19	106					0	0	1	0	0
LENG8	114823	broad.mit.edu	37	19	54969111	54969111	+	Splice_Site	SNP	A	A	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:54969111A>G	ENST00000326764.5	+	13	2312		c.e13-1		LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8								protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CCGCTGCCCCAGGTGCAGGGC	0.682000													28	67					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr3:126707544T>G	ENST00000393409.2	+	1	108	c.108T>G	c.(106-108)ggT>ggG	p.G36G	PLXNA1_ENST00000251772.4_Silent_p.G13G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.G13G(4)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.682000													13	36					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34826309	34826309	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr6:34826309A>G	ENST00000192788.5	+	14	2347	c.2176A>G	c.(2176-2178)Att>Gtt	p.I726V	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.I726V	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	726										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CCCCCTGTCCATTTGGGCCTG	0.542000													21	45					0	0	1	0	0
CKLF	51192	broad.mit.edu	37	16	66592200	66592200	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr16:66592200A>T	ENST00000264001.4	+	2	335	c.186A>T	c.(184-186)ttA>ttT	p.L62F	CKLF_ENST00000532838.1_Intron|CKLF_ENST00000345436.4_Missense_Mutation_p.L62F|CKLF-CMTM1_ENST00000527729.1_Intron|CKLF_ENST00000563092.1_Intron|CKLF_ENST00000351137.4_Intron|CKLF_ENST00000417030.2_Missense_Mutation_p.L62F|CKLF_ENST00000362093.4_Intron	NM_016951.3	NP_058647.1			chemokine-like factor											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)		TCATACTTTTATATGTACTCA	0.338000													41	80					0	0	1	0	0
TMEM56	148534	broad.mit.edu	37	1	95657222	95657222	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr1:95657222G>T	ENST00000370203.4	+	7	881	c.590G>T	c.(589-591)gGc>gTc	p.G197V	RP11-57H12.6_ENST00000604534.1_Intron|RP11-57H12.3_ENST00000421762.1_RNA|RP11-57H12.3_ENST00000419846.1_RNA	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN	transmembrane protein 56	197	TLC.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		CCTCATTATGGCTTCATGTAT	0.393000													37	72					9.62906e-15	1.15145e-14	1	1	0
DDO	8528	broad.mit.edu	37	6	110714071	110714071	+	Silent	SNP	G	G	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr6:110714071G>T	ENST00000368924.3	-	5	1032	c.1017C>A	c.(1015-1017)atC>atA	p.I339I	DDO_ENST00000368923.3_Silent_p.I280I|DDO_ENST00000368925.1_Silent_p.I311I	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	311					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		AGTGCACTGAGATGCCCCCAC	0.622000													19	60					9.7654e-05	0.000102447	1	1	0
ZIC1	7545	broad.mit.edu	37	3	147128206	147128206	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr3:147128206C>G	ENST00000282928.4	+	1	1036	c.307C>G	c.(307-309)Cgc>Ggc	p.R103G		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	103					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CTTTCTGTTCCGCAACCGGGG	0.697000													17	48					0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55730148	55730148	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr16:55730148G>T	ENST00000379906.2	+	8	1414	c.1159G>T	c.(1159-1161)Gtg>Ttg	p.V387L	SLC6A2_ENST00000219833.8_Missense_Mutation_p.V387L|SLC6A2_ENST00000561820.1_Missense_Mutation_p.V387L|SLC6A2_ENST00000414754.3_Missense_Mutation_p.V387L|SLC6A2_ENST00000566163.1_Missense_Mutation_p.V342L|SLC6A2_ENST00000567238.1_Missense_Mutation_p.V282L|SLC6A2_ENST00000568943.1_Missense_Mutation_p.V387L	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	387					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGCTGGCCTAGTGTTCATCCT	0.512000													13	41					7.03913e-09	7.81617e-09	1	1	0
TECPR2	9895	broad.mit.edu	37	14	102912180	102912180	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr14:102912180G>A	ENST00000359520.7	+	13	3197	c.2971G>A	c.(2971-2973)Ggg>Agg	p.G991R	TECPR2_ENST00000558678.1_Missense_Mutation_p.G991R	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	991							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CATAACGCTCGGGGATCAGCA	0.542000													8	121					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82451849	82451849	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:82451849G>T	ENST00000423517.2	-	20	15090	c.14753C>A	c.(14752-14754)gCt>gAt	p.A4918D	PCLO_ENST00000333891.8_Missense_Mutation_p.A4918D|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4780					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGCTTCGGCAGCAGCTATGGC	0.502000													82	129					5.71386e-39	7.1319e-39	1	1	0
NDUFS7	374291	broad.mit.edu	37	19	1383927	1383927	+	Translation_Start_Site	SNP	T	T	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:1383927T>C	ENST00000313408.7	+	1	25	c.2T>C	c.(1-3)aTg>aCg	p.M1T	NDUFS7_ENST00000414651.2_Start_Codon_SNP_p.M1T|NDUFS7_ENST00000546283.1_Start_Codon_SNP_p.M1T|NDUFS7_ENST00000233627.9_Start_Codon_SNP_p.M1T|NDUFS7_ENST00000539480.1_Start_Codon_SNP_p.M1T			O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	1					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	NADH(DB00157)	GAGGCCAAGATGGCGGTGCTG	0.731000													4	8					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21028329	21028329	+	Silent	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr12:21028329G>A	ENST00000381545.3	+	9	1107	c.888G>A	c.(886-888)ttG>ttA	p.L296L	SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Silent_p.L296L|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Silent_p.L296L|SLCO1B3_ENST00000553473.1_Silent_p.L296L	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	296					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)					CACTATCATTGCATGTGCTGA	0.308000													14	53					0	0	1	0	0
LRRC37A16P	651250	broad.mit.edu	37	17	66126527	66126527	+	RNA	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:66126527G>A	ENST00000590019.1	-	0	298																											GGCAAAGGAGGCAGGCCAACG	0.493000													9	35					0	0	1	0	0
RPP38	10557	broad.mit.edu	37	10	15145770	15145770	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr10:15145770A>C	ENST00000378197.4	+	3	971	c.457A>C	c.(457-459)Agc>Cgc	p.S153R	RPP38_ENST00000378202.5_Missense_Mutation_p.S153R|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000466201.1_Intron	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	153					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						GTTAAGCCTAAGCAGAAGTGT	0.502000													8	66					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71098723	71098723	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr16:71098723T>G	ENST00000393567.2	-	16	2246	c.2096A>C	c.(2095-2097)cAc>cCc	p.H699P	HYDIN_ENST00000321489.5_Missense_Mutation_p.H699P|HYDIN_ENST00000538248.1_Missense_Mutation_p.H726P|HYDIN_ENST00000448089.2_Missense_Mutation_p.H699P|HYDIN_ENST00000541601.1_Missense_Mutation_p.H716P|HYDIN_ENST00000448691.1_Missense_Mutation_p.H699P	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	699										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATTGACCAGGTGGAGGGCAGG	0.498000													4	19					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28923454	28923454	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr18:28923454C>T	ENST00000257192.4	+	12	1941	c.1729C>T	c.(1729-1731)Cct>Tct	p.P577S	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	577					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGGAGGTGCTCCTCGTAGTGC	0.478000													28	89					0	0	1	0	0
NUDT7	283927	broad.mit.edu	37	16	77775623	77775623	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr16:77775623C>T	ENST00000268533.5	+	4	562	c.493C>T	c.(493-495)Cgt>Tgt	p.R165C	NUDT7_ENST00000563839.1_3'UTR|NUDT7_ENST00000437314.3_Missense_Mutation_p.R112C|RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000564085.1_3'UTR|NUDT7_ENST00000564031.1_3'UTR	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	165	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						TTACGTCACACGTCTTGGTCA	0.483000													8	62					0	0	1	0	0
VWC2	375567	broad.mit.edu	37	7	49951682	49951682	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:49951682G>T	ENST00000340652.3	+	4	1435	c.879G>T	c.(877-879)aaG>aaT	p.K293N	ZPBP_ENST00000491129.1_Intron	NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	293					negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						GAGAAGTGAAGACTGACGAGT	0.453000													16	63					1.67942e-08	1.8409e-08	1	1	0
NSD1	64324	broad.mit.edu	37	5	176637435	176637435	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr5:176637435C>T	ENST00000439151.2	+	5	2080	c.2035C>T	c.(2035-2037)Cag>Tag	p.Q679*	NSD1_ENST00000347982.4_Nonsense_Mutation_p.Q410*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.Q410*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.Q576*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	679					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GTTATCTATGCAGAAAAATGA	0.393000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			14	72					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70293535	70293535	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr13:70293535T>A	ENST00000377844.4	-	9	2740	c.1981A>T	c.(1981-1983)Aat>Tat	p.N661Y	KLHL1_ENST00000545028.1_Missense_Mutation_p.N468Y	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	661					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GAACAGTGATTTGAAGCAGGA	0.483000													56	57					0	0	1	0	0
HNRNPA1L2	144983	broad.mit.edu	37	13	53217364	53217364	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr13:53217364G>T	ENST00000342657.3	+	7	1810	c.737G>T	c.(736-738)gGa>gTa	p.G246V	HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.G246V|HNRNPA1L2_ENST00000357495.2_Missense_Mutation_p.G246V	NM_001011724.1	NP_001011724.1	Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	246	Gly-rich.				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding			cervix(1)|large_intestine(1)|lung(5)	7						ggctataatggatttggtaat	0.463000													10	41					3.07112e-06	3.3029e-06	1	1	0
IGSF10	285313	broad.mit.edu	37	3	151165724	151165724	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr3:151165724T>C	ENST00000282466.3	-	4	2044	c.2045A>G	c.(2044-2046)gAt>gGt	p.D682G		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	682					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTGGACTCATCAAGTCCAGA	0.468000													9	78					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17071795	17071795	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr22:17071795G>A	ENST00000359963.3	-	1	1905	c.1646C>T	c.(1645-1647)aCa>aTa	p.T549I		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	549					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GATTTTTTTTGTTTCCACAGG	0.403000													24	90					0	0	1	0	0
ALDH3A2	224	broad.mit.edu	37	17	19561060	19561060	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:19561060G>T	ENST00000176643.6	+	5	1129	c.683G>T	c.(682-684)cGc>cTc	p.R228L	ALDH3A2_ENST00000579855.1_Missense_Mutation_p.R228L|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.R228L|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.R228L|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.R228L			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	228			R -> C (in SLS; severe loss of activity).		cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	CCCCTCAGACGCATAACCTGG	0.368000													25	25					1.66031e-10	1.89275e-10	1	1	0
ZNF536	9745	broad.mit.edu	37	19	30935718	30935718	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:30935718G>A	ENST00000355537.3	+	2	1396	c.1249G>A	c.(1249-1251)Ggc>Agc	p.G417S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCCATGGGCGGCATGTCCCA	0.632000													41	43					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1555043	1555043	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:1555043G>C	ENST00000572621.1	-	39	6674	c.6409C>G	c.(6409-6411)Ccc>Gcc	p.P2137A	PRPF8_ENST00000304992.6_Missense_Mutation_p.P2137A|PRPF8_ENST00000575116.1_5'UTR			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2137	MPN.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTCACCTGGGGGTTATCTGGT	0.567000													68	197					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1585429	1585429	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:1585429T>G	ENST00000572621.1	-	3	693	c.428A>C	c.(427-429)cAg>cCg	p.Q143P	PRPF8_ENST00000304992.6_Missense_Mutation_p.Q143P			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	143						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCACCCCCACTGGGAGATGTA	0.532000													11	31					0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138265313	138265313	+	Silent	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:138265313G>A	ENST00000343526.4	+	16	2807	c.2592G>A	c.(2590-2592)gaG>gaA	p.E864E	TRIM24_ENST00000415680.2_Silent_p.E830E			O15164	TIF1A_HUMAN	tripartite motif containing 24	864					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						ACAGTGGAGAGTGGATTTGCA	0.408000													21	151					0	0	1	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269040	30269040	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chrX:30269040G>A	ENST00000378981.3	+	4	751	c.430G>A	c.(430-432)Gat>Aat	p.D144N	MAGEB1_ENST00000397548.2_Missense_Mutation_p.D144N|MAGEB1_ENST00000397550.1_Missense_Mutation_p.D144N	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	144	MAGE.			DH -> EY (in Ref. 7; AAH13772).						NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						AAAGTACAAGGATCACTTCAC	0.473000													8	13					0	0	1	0	0
NRBP1	29959	broad.mit.edu	37	2	27657998	27657998	+	Splice_Site	SNP	A	A	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:27657998A>T	ENST00000233557.3	+	8	1398		c.e8-1		NRBP1_ENST00000379852.3_Splice_Site|NRBP1_ENST00000379863.3_Splice_Site			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1						ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					GTGCCCCCACAGCTACCTGCA	0.577000													13	62					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42530804	42530804	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr18:42530804C>T	ENST00000282030.5	+	4	1795	c.1499C>T	c.(1498-1500)cCa>cTa	p.P500L		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	500						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCGCGGAAGCCACCCATGGTC	0.488000									Schinzel-Giedion syndrome				28	61					0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110451618	110451618	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr4:110451618C>G	ENST00000265175.5	+	19	3305	c.3250C>G	c.(3250-3252)Cag>Gag	p.Q1084E	SEC24B_ENST00000399100.2_Missense_Mutation_p.Q1049E|SEC24B_ENST00000504968.2_Missense_Mutation_p.Q1114E	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1084					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CCTTCTCAAACAGGTAGCTTT	0.358000													8	35					0	0	1	0	0
CCDC150	284992	broad.mit.edu	37	2	197583259	197583259	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:197583259G>T	ENST00000389175.4	+	18	2034	c.1899G>T	c.(1897-1899)gaG>gaT	p.E633D	CCDC150_ENST00000272831.7_Missense_Mutation_p.E280D|CCDC150_ENST00000409270.1_Missense_Mutation_p.E120D	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	633										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GTAAAGAGGAGCTGTCCCGAA	0.383000													15	19					0.000219431	0.000227411	1	1	0
CGN	57530	broad.mit.edu	37	1	151491621	151491621	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr1:151491621G>A	ENST00000271636.7	+	2	759	c.626G>A	c.(625-627)cGc>cAc	p.R209H		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	203	Head.|Interacts with ZO-2.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCTGAACAGCGCAAACGGAGC	0.592000													5	302					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77407569	77407569	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr9:77407569C>T	ENST00000451710.3	-	19	2746	c.2509G>A	c.(2509-2511)Gct>Act	p.A837T	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.A837T|TRPM6_ENST00000449912.2_Missense_Mutation_p.A832T|TRPM6_ENST00000360774.1_Missense_Mutation_p.A837T|TRPM6_ENST00000361255.3_Missense_Mutation_p.A832T			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	837					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ACAATTGGAGCACTGTAGAAC	0.403000													9	43					0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141461050	141461050	+	Silent	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr8:141461050G>A	ENST00000389328.4	-	2	731	c.717C>T	c.(715-717)tgC>tgT	p.C239C	TRAPPC9_ENST00000389327.3_Silent_p.C141C|TRAPPC9_ENST00000438773.2_Silent_p.C141C	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	141					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CCACCGTCTGGCAGTCCTCGT	0.577000													15	39					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25664203	25664203	+	Silent	SNP	T	T	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr4:25664203T>G	ENST00000382051.3	+	2	131	c.81T>G	c.(79-81)acT>acG	p.T27T	SLC34A2_ENST00000503434.1_Silent_p.T27T|SLC34A2_ENST00000504570.1_Silent_p.T27T	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	27					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				AGCAGCCCACTGCCCCTGATA	0.552000			T	ROS1	NSCLC								4	91					0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10249128	10249128	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:10249128T>C	ENST00000340748.4	-	34	4289	c.4054A>G	c.(4054-4056)Agc>Ggc	p.S1352G	DNMT1_ENST00000359526.4_Missense_Mutation_p.S1368G|DNMT1_ENST00000540357.1_Missense_Mutation_p.S1352G			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1352	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GTTATGTTGCTCACAAACTTC	0.632000													18	70					0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123150065	123150065	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:123150065C>G	ENST00000466202.1	-	3	998	c.422G>C	c.(421-423)gGc>gCc	p.G141A	IQUB_ENST00000488987.1_Intron|IQUB_ENST00000434450.1_Missense_Mutation_p.G141A|IQUB_ENST00000324698.6_Missense_Mutation_p.G141A			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	141	Ubiquitin-like.									breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						AATTTCCTGGCCCACTGGAAT	0.318000													19	123					0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105509420	105509420	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr8:105509420C>T	ENST00000276654.5	-	5	1468	c.1360G>A	c.(1360-1362)Gga>Aga	p.G454R	LRP12_ENST00000424843.2_Missense_Mutation_p.G435R	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	454	LDL-receptor class A 5.				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)			TGGAAATTTCCTGGTTGGCAA	0.418000													25	79					0	0	1	0	0
PSPH	5723	broad.mit.edu	37	7	56084927	56084927	+	Splice_Site	SNP	C	C	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:56084927C>A	ENST00000395471.3	-	6	1226	c.421_splice	c.e6+1	p.G141_splice	PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Splice_Site_p.G141_splice			P78330	SERB_HUMAN	phosphoserine phosphatase	141					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AACATCTTACCGTTAAAGTAG	0.383000													15	208					2.31682e-05	2.44553e-05	1	1	0
RNF40	9810	broad.mit.edu	37	16	30780842	30780842	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr16:30780842G>A	ENST00000324685.6	+	17	2942	c.2507G>A	c.(2506-2508)cGa>cAa	p.R836Q	RNF40_ENST00000563683.1_Missense_Mutation_p.R796Q|RNF40_ENST00000567365.1_3'UTR|RNF40_ENST00000357890.5_Missense_Mutation_p.R736Q|RNF40_ENST00000402121.3_Missense_Mutation_p.R528Q	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	836					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GAGAAGGAGCGAGCCTTGCAG	0.647000													15	35					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20512713	20512713	+	Silent	SNP	T	T	C	rs112603988		TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr4:20512713T>C	ENST00000504154.1	+	11	1263	c.1011T>C	c.(1009-1011)tcT>tcC	p.S337S	SLIT2_ENST00000503837.1_Silent_p.S341S|SLIT2_ENST00000273739.5_Silent_p.S341S|SLIT2_ENST00000503823.1_Silent_p.S337S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	337					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATCAGATCTCTGAACTTGCAC	0.408000													12	28					0	0	1	0	0
MYL4	4635	broad.mit.edu	37	17	45299098	45299098	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:45299098C>T	ENST00000354968.1	+	5	492	c.364C>T	c.(364-366)Cac>Tac	p.H122Y	MYL4_ENST00000393450.1_Missense_Mutation_p.H122Y|MYL4_ENST00000572316.1_Missense_Mutation_p.H122Y	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	122					cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						CATCCTGCAGCACATTTCCCG	0.527000													29	102					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518105	108518105	+	Silent	SNP	T	T	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr13:108518105T>C	ENST00000375915.2	-	1	978	c.840A>G	c.(838-840)gaA>gaG	p.E280E		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	280						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TTTCAAACTCTTCGTATTTCT	0.532000													73	73					0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1561057	1561057	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr16:1561057C>T	ENST00000426508.2	-	31	4640	c.4277G>A	c.(4276-4278)gGg>gAg	p.G1426E	IFT140_ENST00000361339.5_Missense_Mutation_p.G620E	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1426										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GAGACCCAGCCCCCGGTGCAC	0.677000													3	24					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135817	55135817	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr11:55135817C>T	ENST00000314706.3	+	1	458	c.458C>T	c.(457-459)gCc>gTc	p.A153V		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CGATACATGGCCATCTGTAAG	0.433000													54	159					0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207891009	207891009	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr1:207891009C>T	ENST00000508064.2	+	11	1675	c.1615C>T	c.(1615-1617)Cct>Tct	p.P539S		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	539	Sushi 8.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CAGCCCTGCCCCTCGCTGTGA	0.522000													35	92					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176162	57176162	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:57176162C>A	ENST00000537055.2	-	2	636	c.405G>T	c.(403-405)gaG>gaT	p.E135D		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CAAATGGCTTCTCCCCGGTGT	0.637000													28	74					1.2476e-16	1.51305e-16	1	1	0
TMEM132D	121256	broad.mit.edu	37	12	129563105	129563105	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr12:129563105G>C	ENST00000422113.2	-	8	2415	c.2089C>G	c.(2089-2091)Cag>Gag	p.Q697E	TMEM132D_ENST00000389441.4_Missense_Mutation_p.Q235E	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	697						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGAAGTTCCTGAGCCACTGCA	0.592000													16	86					0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165218665	165218665	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr1:165218665C>T	ENST00000342310.3	-	4	858	c.476G>A	c.(475-477)aGc>aAc	p.S159N	LMX1A_ENST00000294816.2_Missense_Mutation_p.S159N|LMX1A_ENST00000367893.4_Missense_Mutation_p.S159N	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	159						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					GGCTGCTGGGCTCACCAGGCT	0.602000													7	70					0	0	1	0	0
PIGU	128869	broad.mit.edu	37	20	33232018	33232018	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr20:33232018G>C	ENST00000374820.2	-	3	228	c.208C>G	c.(208-210)Ctc>Gtc	p.L70V	PIGU_ENST00000452740.2_Missense_Mutation_p.L90V			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	90					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						ATAGCAGTGAGTGCATCAGTT	0.408000													10	71					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86327274	86327274	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:86327274A>C	ENST00000263857.6	-	2	477	c.99T>G	c.(97-99)atT>atG	p.I33M	POLR1A_ENST00000409681.1_Missense_Mutation_p.I33M			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	33					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GAGGGTTCGTAATGGATTTAA	0.468000													8	52					0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070695	141070695	+	RNA	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr9:141070695G>A	ENST00000503395.1	+	0	1470																		p.R105H(1)									GCCAAGGGACGCTACACCGAA	0.592000													4	17					0	0	1	0	0
ABTB1	80325	broad.mit.edu	37	3	127398902	127398902	+	Silent	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr3:127398902C>T	ENST00000468137.1	+	10	1294	c.678C>T	c.(676-678)tgC>tgT	p.C226C	ABTB1_ENST00000232744.8_Silent_p.C368C|ABTB1_ENST00000393363.3_Silent_p.C226C|ABTB1_ENST00000453791.2_Silent_p.C226C			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	368						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						AGAGGCTGTGCGGCCGCAGCC	0.642000													5	274					0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100417799	100417799	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:100417799G>A	ENST00000358173.3	-	5	1396	c.928C>T	c.(928-930)Cgg>Tgg	p.R310W	EPHB4_ENST00000360620.3_Missense_Mutation_p.R310W|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	310	Cys-rich.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTGCGTGCCCGGAAGTACCCG	0.637000													5	193					0	0	1	0	0
SLC29A3	55315	broad.mit.edu	37	10	73122036	73122036	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr10:73122036G>A	ENST00000373189.5	+	6	1151	c.1099G>A	c.(1099-1101)Gcc>Acc	p.A367T	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	367					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						GCAGCTCACCGCCTGGATCCA	0.597000													5	183					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62753183	62753183	+	RNA	SNP	G	G	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:62753183G>T	ENST00000331425.6	-	0	252					NR_003952.1																						AAGGTCTTGGGTGAAATGGGA	0.338000													37	82					3.61848e-18	4.41971e-18	1	1	0
USP19	10869	broad.mit.edu	37	3	49153322	49153322	+	Silent	SNP	T	T	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr3:49153322T>C	ENST00000453664.1	-	11	1809	c.1491A>G	c.(1489-1491)tcA>tcG	p.S497S	USP19_ENST00000434032.2_Silent_p.S507S|USP19_ENST00000398898.2_Silent_p.S446S|USP19_ENST00000417901.1_Silent_p.S509S|USP19_ENST00000398888.2_Silent_p.S406S|USP19_ENST00000398892.3_Silent_p.S446S|USP19_ENST00000398896.1_Silent_p.S214S	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	406					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGGTGGGGTTGAATCCAGAG	0.602000													20	41					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77779509	77779509	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr13:77779509C>T	ENST00000407578.2	-	26	3991	c.3725G>A	c.(3724-3726)gGa>gAa	p.G1242E	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.G1204E|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G1204E	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACCCCAGCCTCCTCCATGACC	0.368000													42	35					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1																						CAGCAGCAGCCAGCTGAGCACC	0.718													6	9	---	---	---	---					
USP34	9736	broad.mit.edu	37	2	61415591	61415597	+	Frame_Shift_Del	DEL	ATTTGAC	ATTTGAC	-			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:61415591_61415597delATTTGAC	ENST00000398571.2	-	80	10357_10363	c.10281_10287delGTCAAAT	c.(10279-10287)atfs	p.MSN3427fs		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3427					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTGACCTGATATTTGACATGTCTTCTG	0.396													23	89	---	---	---	---					
HERC5	51191	broad.mit.edu	37	4	89378627	89378627	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr4:89378627delC	ENST00000264350.3	+	1	360	c.207delC	c.(205-207)ggfs	p.G70fs		NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	70					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TGGAACGCGGCGGGGCGGGCG	0.756													2	4	---	---	---	---					
PPP1R18	170954	broad.mit.edu	37	6	30653494	30653496	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr6:30653494_30653496delTGC	ENST00000274853.3	-	1	2176_2178	c.300_302delGCA	c.(298-303)caa>ca	p.QQ102del	PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN	protein phosphatase 1, regulatory subunit 18	102	Poly-Gln.					cytoplasm|cytoskeleton	actin binding	p.Q100Q(1)									CCGTtgttgttgctgctgctgct	0.650													7	131	---	---	---	---					
CASP8AP2	9994	broad.mit.edu	37	6	90556398	90556398	+	RNA	DEL	T	T	-			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr6:90556398delT	ENST00000551025.1	+	0	1492							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TCTAAtttccttttttttttt	0.418													4	6	---	---	---	---					
CHD7	55636	broad.mit.edu	37	8	61743066	61743097	+	Frame_Shift_Del	DEL	TAACGTACCTAACCTATTAAACACTATGATGG	TAACGTACCTAACCTATTAAACACTATGATGG	-			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr8:61743066_61743097delTAACGTACCTAACCTATTAAACACTATGATGG	ENST00000423902.2	+	15	4187_4218	c.3708_3739delTAACGTACCTAACCTATTAAACACTATGATGG	c.(3706-3741)gcaafs	p.ANVPNLLNTMME1236fs	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1236					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)			GTGGTCAAGCTAACGTACCTAACCTATTAAACACTATGATGGAATTGCGGAA	0.414													8	72	---	---	---	---					
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gcg>gc	p.AGDRMAGA36del	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588													3	6	---	---	---	---					
TARBP2	6895	broad.mit.edu	37	12	53898227	53898228	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr12:53898227_53898228insA	ENST00000266987.2	+	5	952_953	c.469_470insA	c.(469-471)gtgfs	p.V157fs	TARBP2_ENST00000552857.1_Frame_Shift_Ins_p.V66fs|TARBP2_ENST00000394357.2_Frame_Shift_Ins_p.V136fs|TARBP2_ENST00000456234.2_Frame_Shift_Ins_p.V136fs	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	157	Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						TCAGCAGTCTGAGTGCAACCCC	0.589													20	77	---	---	---	---					
CES1P1	51716	broad.mit.edu	37	16	55806588	55806588	+	RNA	DEL	A	A	-	rs71149630		TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr16:55806588delA	ENST00000571348.1	+	0	736					NR_003276.2																						GCTAAAGACCAAGCTCTCCTT	0.527													3	3	---	---	---	---					
CCDC144B	284047	broad.mit.edu	37	17	18498059	18498060	+	RNA	INS	-	-	A	rs66528329		TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:18498059_18498060insA	ENST00000442583.1	-	0	898_899																				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTAAGTTGTTCATCAGCAACAT	0.406													9	9	---	---	---	---