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
C10orf129	142827	broad.mit.edu	37	10	96967005	96967005	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:96967005G>C	ENST00000341686.3	+	4	569	c.444G>C	c.(442-444)aaG>aaC	p.K148N	C10orf129_ENST00000394005.3_Missense_Mutation_p.K148N|C10orf129_ENST00000430183.1_5'UTR	NM_207321.2	NP_997204.2	Q6P461	ACSM6_HUMAN	chromosome 10 open reading frame 129	148					fatty acid metabolic process	mitochondrion	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		TGACTGCCAAGAAAATTCGCT	0.463000													76	59					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2815072	2815072	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:2815072G>C	ENST00000301740.8	+	11	5092	c.4543G>C	c.(4543-4545)Gaa>Caa	p.E1515Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1515	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCCCCAGAGAGAAAGAAGCGG	0.522000													135	37					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79400752	79400752	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:79400752G>C	ENST00000264895.6	+	56	8763	c.8323G>C	c.(8323-8325)Gat>Cat	p.D2775H		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2770					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGCCTTGGCAGATGCCTCTGA	0.527000													28	49					0	0	1	0	0
CLN3	1201	broad.mit.edu	37	16	28493700	28493700	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:28493700C>G	ENST00000569430.1	-	14	1729	c.910G>C	c.(910-912)Gaa>Caa	p.E304Q	CLN3_ENST00000355477.5_Missense_Mutation_p.E256Q|CLN3_ENST00000395653.4_Missense_Mutation_p.E204Q|CLN3_ENST00000535392.1_Missense_Mutation_p.E226Q|CLN3_ENST00000568224.1_Missense_Mutation_p.E226Q|CLN3_ENST00000357857.9_Missense_Mutation_p.E250Q|CLN3_ENST00000357806.7_Missense_Mutation_p.E205Q|CLN3_ENST00000567963.1_Intron|CLN3_ENST00000359984.7_Missense_Mutation_p.E304Q|CLN3_ENST00000357076.5_Missense_Mutation_p.E194Q|CLN3_ENST00000354630.5_Missense_Mutation_p.E287Q|CLN3_ENST00000565316.1_Missense_Mutation_p.E287Q|CLN3_ENST00000360019.2_Missense_Mutation_p.E304Q|CLN3_ENST00000333496.9_Missense_Mutation_p.E280Q			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	304					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						AAGAGGAGTTCAAACTGCAAC	0.592000													27	39					0	0	1	0	0
STRIP1	85369	broad.mit.edu	37	1	110591786	110591786	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:110591786G>C	ENST00000369795.3	+	16	1736	c.1714G>C	c.(1714-1716)Gag>Cag	p.E572Q	STRIP1_ENST00000369796.1_Missense_Mutation_p.E477Q	NM_033088.3	NP_149079.2			striatin interacting protein 1																		CCGCCACAAAGAGGTCATTGT	0.522000													30	50					0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	236957880	236957880	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:236957880A>G	ENST00000304032.8	+	16	2649	c.2069A>G	c.(2068-2070)gAa>gGa	p.E690G	AGAP1_ENST00000409538.1_Missense_Mutation_p.E902G|AGAP1_ENST00000428334.2_Missense_Mutation_p.E529G|AGAP1_ENST00000336665.5_Missense_Mutation_p.E637G	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1		Arf-GAP.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AGCGTCTGGGAAGAGAGCAGC	0.567000													45	11					0	0	1	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71360405	71360405	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:71360405G>A	ENST00000244230.2	+	2	819	c.467G>A	c.(466-468)aGc>aAc	p.S156N	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.S156N	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	156					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						GAAAACTCAAGCAAATCTGAT	0.448000													59	76					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186953660	186953660	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:186953660C>T	ENST00000296280.6	-	11	2224	c.1999G>A	c.(1999-2001)Gcc>Acc	p.A667T	MASP1_ENST00000337774.5_Intron|MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000392472.2_Missense_Mutation_p.A554T	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	649	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		ATGACAAAGGCCCCACCGCTA	0.582000													47	51					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77390846	77390846	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:77390846C>A	ENST00000451710.3	-	24	3593	c.3356G>T	c.(3355-3357)tGc>tTc	p.C1119F	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.C1114F|TRPM6_ENST00000449912.2_Missense_Mutation_p.C1114F|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.C1119F|TRPM6_ENST00000360774.1_Missense_Mutation_p.C1119F			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1119					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						TCGATGACAGCACAGGCGGCG	0.542000													50	100					2.40265e-35	2.54229e-35	1	1	0
SLC6A15	55117	broad.mit.edu	37	12	85285836	85285836	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:85285836C>G	ENST00000450363.3	-	2	522	c.64G>C	c.(64-66)Gac>Cac	p.D22H	SLC6A15_ENST00000552192.1_Intron|SLC6A15_ENST00000266682.5_Missense_Mutation_p.D22H|SLC6A15_ENST00000551388.1_Intron	NM_018057.6	NP_060527.2	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	22					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GAAAGAAGGTCTTTGACAGAC	0.353000													79	113					0	0	1	0	0
NUP93	9688	broad.mit.edu	37	16	56857669	56857669	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:56857669G>A	ENST00000564887.1	+	6	965	c.336G>A	c.(334-336)ttG>ttA	p.L112L	NUP93_ENST00000569842.1_Silent_p.L235L|NUP93_ENST00000542526.1_Silent_p.L112L|NUP93_ENST00000308159.5_Silent_p.L235L	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	235					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ACGTGTTGTTGACACCGGCAA	0.517000													77	85					0	0	1	0	0
C17orf59	54785	broad.mit.edu	37	17	8092765	8092765	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:8092765G>C	ENST00000389017.4	-	1	799	c.694C>G	c.(694-696)Cca>Gca	p.P232A		NM_017622.2	NP_060092.2	Q96GS4	CQ059_HUMAN	chromosome 17 open reading frame 59	232	Pro-rich.									large_intestine(2)|lung(3)|urinary_tract(1)	6						GGCGGGGGTGGAGGCGCGCCG	0.682000													6	2					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144946756	144946756	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:144946756G>A	ENST00000525985.1	-	2	737	c.666C>T	c.(664-666)ccC>ccT	p.P222P				P58107	EPIPL_HUMAN	epiplakin 1	222						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCCGAGCCGGGGGCACGCA	0.662000													11	16					0	0	1	0	0
FKBP2	2286	broad.mit.edu	37	11	64011466	64011466	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:64011466G>C	ENST00000394540.3	+	6	864	c.394G>C	c.(394-396)Gag>Cag	p.E132Q	FKBP2_ENST00000449942.2_Missense_Mutation_p.E132Q|FKBP2_ENST00000309366.4_Missense_Mutation_p.E132Q	NM_057092.2	NP_476433.1	P26885	FKBP2_HUMAN	FK506 binding protein 2, 13kDa	132	PPIase FKBP-type.				protein folding	endoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			endometrium(2)|lung(3)	5						GTTCGAGGTGGAGCTGCTCAA	0.582000													52	118					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183520021	183520021	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:183520021G>A	ENST00000367537.3	+	22	3413	c.3218G>A	c.(3217-3219)aGa>aAa	p.R1073K	SMG7_ENST00000507469.1_Missense_Mutation_p.R1044K|SMG7_ENST00000515829.2_Missense_Mutation_p.R994K|SMG7_ENST00000508461.1_Missense_Mutation_p.R1048K|SMG7_ENST00000347615.2_Missense_Mutation_p.R1040K|SMG7_ENST00000456731.2_Missense_Mutation_p.R952K			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	1040					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AACAGGGATAGAAGGACTGCA	0.458000													63	62					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156230322	156230322	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:156230322G>A	ENST00000361813.5	-	15	2347	c.2203C>T	c.(2203-2205)Cgt>Tgt	p.R735C	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	735					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GGCAGGTTACGAAGAGCCATG	0.562000													46	63					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116485505	116485505	+	Silent	SNP	A	A	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:116485505A>G	ENST00000410059.1	+	8	1170	c.690A>G	c.(688-690)ttA>ttG	p.L230L	DPP10_ENST00000393147.2_Silent_p.L234L|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000409163.1_Silent_p.L180L|DPP10_ENST00000310323.8_Silent_p.L223L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	230					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CTGACTGGTTATATGAAGGTG	0.299000													19	19					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55663071	55663071	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:55663071G>C	ENST00000373965.2	-	27	3848	c.3454C>G	c.(3454-3456)Cag>Gag	p.Q1152E	PCDH15_ENST00000409834.1_Missense_Mutation_p.Q756E|PCDH15_ENST00000437009.1_Missense_Mutation_p.Q1074E|PCDH15_ENST00000395433.1_Missense_Mutation_p.Q1123E|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_Missense_Mutation_p.Q1150E|PCDH15_ENST00000395445.1_Missense_Mutation_p.Q1152E|PCDH15_ENST00000395438.1_Missense_Mutation_p.Q1145E|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.Q1145E|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.Q1145E|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.Q1108E|PCDH15_ENST00000320301.6_Missense_Mutation_p.Q1145E	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1145	Cadherin 11.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AATTTTTTCTGAAACACTGGG	0.353000										HNSCC(58;0.16)			35	38					0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74900408	74900408	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:74900408C>T	ENST00000569840.2	+	6	1168	c.594C>T	c.(592-594)ctC>ctT	p.L198L	MGAT5B_ENST00000428789.2_Silent_p.L209L|MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000301618.4_Silent_p.L198L	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	198						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTCCTTCCTCATCTACCTCA	0.667000													19	1					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64593421	64593421	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:64593421G>C	ENST00000357395.3	+	74	14112	c.2968G>C	c.(2968-2970)Gaa>Caa	p.E990Q	SYNE2_ENST00000394768.2_Missense_Mutation_p.E990Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.E1239Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E4605Q|SYNE2_ENST00000344113.4_Missense_Mutation_p.E4605Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4556Q|ESR2_ENST00000542956.1_Intron			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4605					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTTGCTCCTTGAATGTTTTGA	0.478000													55	59					0	0	1	0	0
INTS5	80789	broad.mit.edu	37	11	62414897	62414897	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:62414897G>A	ENST00000330574.2	-	2	2707	c.2655C>T	c.(2653-2655)ctC>ctT	p.L885L		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	885					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AATGGCCCAAGAGGGCGGCCA	0.642000													32	72					0	0	1	0	0
TRAV13-2	28670	broad.mit.edu	37	14	22386380	22386380	+	RNA	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:22386380C>G	ENST00000390439.2	+	0	18																											GGAAGTAGCTCTTATGGCTGG	0.428000													44	63					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76523078	76523078	+	Splice_Site	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:76523078C>T	ENST00000389840.5	-	23	3632	c.3508G>A	c.(3508-3510)Gag>Aag	p.E1170K	DNAH17_ENST00000585328.1_Splice_Site_p.E1167K					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCCGGCAGCTCCTGCGGGAAG	0.507000													12	2					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20876254	20876254	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:20876254G>A	ENST00000262715.5	-	2	385	c.345C>T	c.(343-345)ctC>ctT	p.L115L	TEP1_ENST00000556935.1_Silent_p.L115L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	115					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TTAGACTAGAGAGGGTGGCCA	0.512000													67	110					0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62659061	62659061	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr20:62659061C>T	ENST00000535781.1	+	16	2302	c.2191C>T	c.(2191-2193)Ctg>Ttg	p.L731L	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	771					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					AAAGTCTCGTCTGAAGAACCC	0.612000													96	88					0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67985897	67985897	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:67985897C>T	ENST00000422611.2	-	7	1006	c.967G>A	c.(967-969)Gac>Aac	p.D323N	SLC12A4_ENST00000316341.3_Missense_Mutation_p.D321N|SLC12A4_ENST00000541864.2_Missense_Mutation_p.D290N|SLC12A4_ENST00000338335.3_Missense_Mutation_p.D321N|SLC12A4_ENST00000537830.2_Missense_Mutation_p.D315N|SLC12A4_ENST00000572037.1_Missense_Mutation_p.D273N|SLC12A4_ENST00000576616.1_Missense_Mutation_p.D321N	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	321					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCACAGATGTCAAACTGGTCC	0.587000													27	44					0	0	1	0	0
PACS1	55690	broad.mit.edu	37	11	65961019	65961019	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:65961019C>G	ENST00000320580.4	+	2	452	c.419C>G	c.(418-420)tCa>tGa	p.S140*		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	140					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GATCTTAACTCAGTGGTCATC	0.488000													21	96					0	0	1	0	0
SRP68	6730	broad.mit.edu	37	17	74057619	74057619	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:74057619C>G	ENST00000307877.2	-	5	759	c.598G>C	c.(598-600)Gaa>Caa	p.E200Q	SRP68_ENST00000539137.1_Missense_Mutation_p.E162Q|SRP68_ENST00000355113.5_Missense_Mutation_p.E99Q	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	200					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	p.E200*(1)		NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TCTTGATGTTCAAAACGTAGC	0.433000													76	8					0	0	1	0	0
FBXO3	26273	broad.mit.edu	37	11	33763508	33763508	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:33763508C>G	ENST00000526785.1	-	10	4774	c.1023G>C	c.(1021-1023)cgG>cgC	p.R341R	FBXO3_ENST00000532057.1_Silent_p.R141R|FBXO3_ENST00000530401.1_3'UTR|FBXO3_ENST00000265651.3_Silent_p.R454R|FBXO3_ENST00000531080.1_Silent_p.R141R			Q9UK99	FBX3_HUMAN	F-box protein 3	454	ApaG.				proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		AGACTCTCCTCCGTCTCTCCT	0.478000													58	11					0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71020971	71020971	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:71020971C>G	ENST00000354624.5	+	16	2426	c.2293C>G	c.(2293-2295)Ctc>Gtc	p.L765V	HKDC1_ENST00000395086.2_Missense_Mutation_p.L765V	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	765					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CAAGCAGGGTCTCCTCTTCCG	0.517000													41	54					0	0	1	0	0
CXorf36	79742	broad.mit.edu	37	X	45010958	45010958	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chrX:45010958C>G	ENST00000398000.2	-	5	1315	c.1241G>C	c.(1240-1242)aGa>aCa	p.R414T	CXorf36_ENST00000477281.1_5'UTR	NM_176819.3	NP_789789.2	Q9H7Y0	CX036_HUMAN	chromosome X open reading frame 36	414						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						GTCACACGTTCTCAGGGGCCT	0.537000													96	11					0	0	1	0	0
BPI	671	broad.mit.edu	37	20	36948673	36948673	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr20:36948673G>T	ENST00000262865.4	+	7	854	c.765G>T	c.(763-765)atG>atT	p.M255I	BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	255					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	p.M255I(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				ATGTACAGATGAAGGTGAGGC	0.498000													30	37					3.86903e-22	4.04549e-22	1	1	0
ZNF236	7776	broad.mit.edu	37	18	74583695	74583695	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr18:74583695G>A	ENST00000253159.8	+	5	773	c.575G>A	c.(574-576)aGa>aAa	p.R192K	ZNF236_ENST00000583095.1_Intron|ZNF236_ENST00000320610.9_Missense_Mutation_p.R194K	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	192					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AATATCGACAGAAGTGGATTC	0.418000													70	86					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49724610	49724610	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:49724610C>G	ENST00000449682.2	-	5	940	c.579G>C	c.(577-579)caG>caC	p.Q193H	MST1_ENST00000494828.2_5'UTR|MST1_ENST00000383728.3_Missense_Mutation_p.Q118H|MST1_ENST00000545762.1_Missense_Mutation_p.R141T	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	179	Kringle 2.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGCCGCAGCTCTGGAAGCGCA	0.622000													36	67					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155365333	155365333	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:155365333C>T	ENST00000368346.3	-	7	6659	c.6020G>A	c.(6019-6021)cGa>cAa	p.R2007Q	ASH1L_ENST00000392403.3_Missense_Mutation_p.R2007Q			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2007					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTGGATCAATCGACTCTTTGG	0.413000													28	42					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157665209	157665209	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:157665209G>A	ENST00000368184.3	-	8	1612	c.1321C>T	c.(1321-1323)Ctg>Ttg	p.L441L	FCRL3_ENST00000368186.5_Silent_p.L441L|FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	441	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TCTGCAGTCAGAGAGAGGTTG	0.557000													90	131					0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21120457	21120457	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr18:21120457C>G	ENST00000269228.5	-	17	3113	c.2559G>C	c.(2557-2559)ctG>ctC	p.L853L	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Silent_p.L535L	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	853					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTACTTTGTTCAGGACTGCGA	0.358000													22	51					0	0	1	0	0
RNF208	727800	broad.mit.edu	37	9	140115581	140115581	+	Silent	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:140115581G>T	ENST00000392827.1	-	2	252	c.84C>A	c.(82-84)ctC>ctA	p.L28L	RNF208_ENST00000391553.1_Silent_p.L28L			Q9H0X6	RN208_HUMAN	ring finger protein 208	28							zinc ion binding			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCTCCATCTTGAGGATGACAT	0.662000													17	22					0.00152264	0.00153504	1	1	0
PON2	5445	broad.mit.edu	37	7	95039303	95039303	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:95039303G>A	ENST00000536183.1	-	6	851	c.668C>T	c.(667-669)gCa>gTa	p.A223V	PON2_ENST00000433091.2_Missense_Mutation_p.A190V|PON2_ENST00000222572.3_Missense_Mutation_p.A202V|PON2_ENST00000483292.1_5'UTR	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	paraoxonase 2	202					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			AACAACATTTGCCCAGTGTAA	0.388000													66	94					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63008574	63008574	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:63008574G>C	ENST00000561311.1	+	22	2909	c.2679G>C	c.(2677-2679)ctG>ctC	p.L893L	TLN2_ENST00000306829.6_Silent_p.L893L			Q9Y4G6	TLN2_HUMAN	talin 2	893	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGCAAAGGCTGAGAGAAGCTG	0.502000													35	48					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89350394	89350394	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:89350394G>C	ENST00000301030.4	-	9	3016	c.2556C>G	c.(2554-2556)ttC>ttG	p.F852L	ANKRD11_ENST00000378330.2_Missense_Mutation_p.F852L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	852	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCTCCCCTTTGAAATCAAAGG	0.488000													48	59					0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18968269	18968269	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:18968269G>C	ENST00000262803.5	+	15	2381	c.2109G>C	c.(2107-2109)cgG>cgC	p.R703R	UPF1_ENST00000599848.1_Silent_p.R714R	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	714					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TCCAGTACCGGATGCACCCTG	0.647000													22	16					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48741027	48741027	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:48741027C>T	ENST00000316623.5	-	46	6064	c.5609G>A	c.(5608-5610)gGa>gAa	p.G1870E		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1870	EGF-like 31; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATAAAAGCTTCCAACTGTGTC	0.353000													31	36					0	0	1	0	0
MSH3	4437	broad.mit.edu	37	5	80150118	80150118	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:80150118G>C	ENST00000265081.6	+	21	3063	c.2983G>C	c.(2983-2985)Gag>Cag	p.E995Q		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	995					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TGCTACACTTGAGTATTTCAT	0.328000								Mismatch excision repair (MMR)					35	106					0	0	1	0	0
STRIP1	85369	broad.mit.edu	37	1	110592108	110592108	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:110592108G>A	ENST00000369795.3	+	17	1837	c.1815G>A	c.(1813-1815)gtG>gtA	p.V605V	STRIP1_ENST00000369796.1_Silent_p.V510V	NM_033088.3	NP_149079.2			striatin interacting protein 1																		AGCACCTGGTGTTTGCCAACT	0.473000													57	72					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104227	168104227	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:168104227G>A	ENST00000409195.1	+	9	6414	c.6325G>A	c.(6325-6327)Gat>Aat	p.D2109N	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D2109N|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1887N|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1934					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAGAAGGATGATGTCTTTAA	0.368000													39	10					0	0	1	0	0
LEO1	123169	broad.mit.edu	37	15	52258162	52258162	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:52258162C>T	ENST00000299601.5	-	2	658	c.598G>A	c.(598-600)Gag>Aag	p.E200K	LEO1_ENST00000315141.5_Missense_Mutation_p.E200K	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	200	Asp-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		TGTTGTCTCTCATCATCGGAA	0.438000													150	193					0	0	1	0	0
UFD1L	7353	broad.mit.edu	37	22	19459219	19459219	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr22:19459219G>C	ENST00000263202.10	-	4	411	c.282C>G	c.(280-282)ctC>ctG	p.L94L	UFD1L_ENST00000484101.1_5'UTR|UFD1L_ENST00000360834.4_Silent_p.L83L|UFD1L_ENST00000399523.1_Silent_p.L94L	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)						skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					CCCAGTGTGGGAGGTAGCAGA	0.572000													26	46					0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128935411	128935411	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:128935411G>C	ENST00000375990.3	+	33	3961	c.3558G>C	c.(3556-3558)caG>caC	p.Q1186H	UGGT1_ENST00000259253.6_Missense_Mutation_p.Q1210H			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1210					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGCAGGTTCAGAAGAAGGCAG	0.418000													96	288					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52820325	52820325	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:52820325C>A	ENST00000273283.2	+	13	1632	c.1608C>A	c.(1606-1608)ttC>ttA	p.F536L	ITIH1_ENST00000542827.1_Missense_Mutation_p.F536L|ITIH1_ENST00000537050.1_Missense_Mutation_p.F248L|ITIH1_ENST00000540715.1_Missense_Mutation_p.F394L	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	536	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GACAAGAATTCAGTATAACCT	0.582000													6	3					0.0477658	0.0479206	1	1	0
MARCKS	4082	broad.mit.edu	37	6	114181750	114181750	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:114181750G>C	ENST00000368635.4	+	2	1375	c.994G>C	c.(994-996)Gag>Cag	p.E332Q		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	332					energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding			breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		GGAGGCGGCAGAGTAAAAGAG	0.597000													73	53					0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47958144	47958144	+	Silent	SNP	A	A	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:47958144A>G	ENST00000426837.2	-	8	1311	c.1224T>C	c.(1222-1224)gcT>gcC	p.A408A	MAP4_ENST00000360240.6_Silent_p.A391A|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Silent_p.A391A			P27816	MAP4_HUMAN	microtubule-associated protein 4	391	17 X 14 AA tandem repeats.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.A391A(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		CCTTGGAAGGAGCCAAGTCCA	0.443000													4	228					0	0	1	0	0
GPR152	390212	broad.mit.edu	37	11	67220174	67220174	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:67220174C>T	ENST00000312457.2	-	1	26	c.22G>A	c.(22-24)Gac>Aac	p.D8N	CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000438189.2_Intron	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	8						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GCACCCAGGTCAGCTTCCATG	0.602000													59	36					0	0	1	0	0
SERTAD1	29950	broad.mit.edu	37	19	40929372	40929372	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:40929372G>A	ENST00000357949.4	-	2	240	c.82C>T	c.(82-84)Cct>Tct	p.P28S		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	28					positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTGTGGCCAGGATCTAGCCAC	0.622000													48	29					0	0	1	0	0
NEIL1	79661	broad.mit.edu	37	15	75641328	75641328	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:75641328G>T	ENST00000564784.1	+	3	711	c.82G>T	c.(82-84)Gag>Tag	p.E28*	NEIL1_ENST00000355059.4_Nonsense_Mutation_p.E28*|NEIL1_ENST00000567959.1_Intron|NEIL1_ENST00000569035.1_Nonsense_Mutation_p.E28*			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	28					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						CGGCTGCGTGGAGAAGTCCTC	0.647000								Base excision repair (BER), DNA glycosylases					29	60					1.74807e-11	1.78557e-11	1	1	0
SUN1	23353	broad.mit.edu	37	7	872165	872165	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:872165G>C	ENST00000456758.2	+	4	178	c.178G>C	c.(178-180)Gat>Cat	p.D60H	SUN1_ENST00000401592.1_Missense_Mutation_p.D2H|SUN1_ENST00000457378.2_Missense_Mutation_p.D23H|SUN1_ENST00000403868.1_Missense_Mutation_p.D2H|SUN1_ENST00000389574.3_Intron|SUN1_ENST00000425407.2_5'UTR|SUN1_ENST00000452783.2_Missense_Mutation_p.D2H|SUN1_ENST00000405266.1_Missense_Mutation_p.D2H			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	2	LMNA-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTGAACATGGATTTTTCTCG	0.537000													12	17					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9066645	9066645	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:9066645G>C	ENST00000382496.5	-	17	2852	c.2187C>G	c.(2185-2187)ttC>ttG	p.F729L		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	729	TSP type-1 4.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ATGTGTATCGGAATCGTTGCT	0.557000													129	79					0	0	1	0	0
ZNF582	147948	broad.mit.edu	37	19	56895395	56895395	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:56895395G>C	ENST00000301310.4	-	5	1549	c.1391C>G	c.(1390-1392)tCa>tGa	p.S464*	ZNF582_ENST00000586929.1_Nonsense_Mutation_p.S464*	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	464					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		AACGGTAGTTGAATCATGACT	0.363000													23	108					0	0	1	0	0
SEC63	11231	broad.mit.edu	37	6	108214765	108214765	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:108214765A>T	ENST00000369002.4	-	16	1774	c.1595T>A	c.(1594-1596)tTa>tAa	p.L532*		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	532	SEC63 1.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	p.L532*(2)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTTTTTTTTTAAAGGTTTCTT	0.368000													4	91					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067806	9067806	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:9067806G>C	ENST00000397910.4	-	3	19843	c.19640C>G	c.(19639-19641)tCt>tGt	p.S6547C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6549	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S6547C(1)|p.S2180C(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACTAGGCCAGAGGTGGGGAG	0.488000													28	17					0	0	1	0	0
CHST9	83539	broad.mit.edu	37	18	24496276	24496276	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr18:24496276C>T	ENST00000284224.8	-	6	1556	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N	AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.D427N|AQP4-AS1_ENST00000578701.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	427					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TAATAAAAGTCATAGATTAAT	0.313000													30	54					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183518360	183518360	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:183518360G>T	ENST00000367537.3	+	20	3054	c.2859G>T	c.(2857-2859)aaG>aaT	p.K953N	SMG7_ENST00000507469.1_Missense_Mutation_p.K924N|SMG7_ENST00000515829.2_Missense_Mutation_p.K874N|SMG7_ENST00000508461.1_Missense_Mutation_p.K928N|SMG7_ENST00000347615.2_Missense_Mutation_p.K920N|SMG7_ENST00000456731.2_Missense_Mutation_p.K832N			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	920	Ser-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TATTGGAGAAGCCCTCAGAGC	0.388000													41	42					9.72345e-25	1.02187e-24	1	1	0
ZNF599	148103	broad.mit.edu	37	19	35251243	35251243	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:35251243C>T	ENST00000329285.8	-	4	836	c.463G>A	c.(463-465)Gat>Aat	p.D155N		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TCCAAATCATCATGTTTATAA	0.438000													34	127					0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114793425	114793425	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:114793425G>C	ENST00000310346.4	-	9	2135	c.1469C>G	c.(1468-1470)tCt>tGt	p.S490C	TBX5_ENST00000405440.2_Missense_Mutation_p.S490C|TBX5_ENST00000349716.5_Missense_Mutation_p.S440C	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	490					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CACGCCATGAGAGTAGAGGAA	0.612000													20	48					0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86485462	86485462	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:86485462C>G	ENST00000297814.2	-	12	2872	c.2729G>C	c.(2728-2730)gGt>gCt	p.G910A	KIF27_ENST00000334204.2_Intron|KIF27_ENST00000413982.1_Missense_Mutation_p.G844A	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	910					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TCCAAACGAACCTTTTCTCCT	0.363000													26	34					0	0	1	0	0
NKX2-5	1482	broad.mit.edu	37	5	172660109	172660109	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:172660109C>T	ENST00000329198.4	-	2	711	c.438G>A	c.(436-438)tcG>tcA	p.S146S	NKX2-5_ENST00000424406.2_3'UTR|NKX2-5_ENST00000521848.1_3'UTR	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	146					adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCTGCGCCTGCGAGAAGAGCA	0.692000													8	5					0	0	1	0	0
DLGAP5	9787	broad.mit.edu	37	14	55642131	55642131	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:55642131C>T	ENST00000247191.2	-	10	1450	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	DLGAP5_ENST00000395425.2_Missense_Mutation_p.E412K	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	412					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						GATGGGACTTCTTTTATTGGA	0.313000													21	16					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14824958	14824958	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:14824958G>A	ENST00000380881.4	-	12	2732	c.1917C>T	c.(1915-1917)gaC>gaT	p.D639D	FREM1_ENST00000380880.3_Silent_p.D638D|FREM1_ENST00000422223.2_Silent_p.D638D			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	638					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTGGAAGCTGGTCATCCACTG	0.383000													28	33					0	0	1	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156726374	156726374	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:156726374G>C	ENST00000264424.8	+	13	1911	c.1829G>C	c.(1828-1830)gGa>gCa	p.G610A	GUCY1B3_ENST00000513437.1_Missense_Mutation_p.G542A|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.G577A|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.G590A|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.G585A|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.G632A|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.G542A	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	610					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		AAAAATACAGGAACAGAGGTA	0.358000													11	2					0	0	1	0	0
FAM65A	79567	broad.mit.edu	37	16	67575861	67575861	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:67575861C>G	ENST00000540839.3	+	14	1452	c.1232C>G	c.(1231-1233)tCa>tGa	p.S411*	FAM65A_ENST00000428437.2_Nonsense_Mutation_p.S405*|FAM65A_ENST00000042381.4_Nonsense_Mutation_p.S391*|FAM65A_ENST00000422602.2_Nonsense_Mutation_p.S411*|FAM65A_ENST00000379312.3_Nonsense_Mutation_p.S395*			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	395						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCACAGCTCTCAGGCACTGCC	0.622000													44	71					0	0	1	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71360599	71360599	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:71360599G>C	ENST00000244230.2	+	2	1013	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.E221Q	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	221					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						AGAAAAAGAAGAGGAACGAAA	0.338000													40	33					0	0	1	0	0
CTBP2	1488	broad.mit.edu	37	10	126694375	126694375	+	Translation_Start_Site	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:126694375C>T	ENST00000334808.6	-	1	207	c.3G>A	c.(1-3)atG>atA	p.M1I	CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000309035.6_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000411419.2_Intron			P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GTCCTGGTCTCATGCCCCAGG	0.542000													125	83					0	0	1	0	0
CDT1	81620	broad.mit.edu	37	16	88870299	88870299	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:88870299C>T	ENST00000301019.4	+	1	679	c.60C>T	c.(58-60)atC>atT	p.I20I		NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor 1	20					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		ccccccgcATCGCGCCGCCCA	0.781000													13	23					0	0	1	0	0
CPSF3	51692	broad.mit.edu	37	2	9583767	9583767	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:9583767C>T	ENST00000460593.1	+	10	2246	c.1108C>T	c.(1108-1110)Cgt>Tgt	p.R370C	CPSF3_ENST00000238112.3_Missense_Mutation_p.R407C			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	407					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TGAATTTATTCGTGCTTTGAA	0.388000													59	113					0	0	1	0	0
PGM2L1	283209	broad.mit.edu	37	11	74109127	74109127	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:74109127G>A	ENST00000298198.4	-	1	391	c.80C>T	c.(79-81)aCg>aTg	p.T27M	RP11-702H23.4_ENST00000533008.1_RNA|RP11-702H23.4_ENST00000531906.1_RNA	NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	27					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					CCCGATGGCCGTGTCCAGCTG	0.652000													3	47					0	0	1	0	0
SLC7A6OS	84138	broad.mit.edu	37	16	68344264	68344264	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:68344264C>G	ENST00000263997.6	-	2	463	c.445G>C	c.(445-447)Gaa>Caa	p.E149Q		NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand	149					protein transport	cytoplasm|nucleus				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		GAGGCGGCTTCAGGTTCTCCC	0.612000													23	19					0	0	1	0	0
GNPTG	84572	broad.mit.edu	37	16	1412126	1412126	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:1412126G>A	ENST00000204679.4	+	6	448	c.405G>A	c.(403-405)caG>caA	p.Q135Q		NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit	135						extracellular region|Golgi apparatus	protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				GGAGCCGGCAGAGCAAGGTGG	0.667000													8	0					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130926567	130926567	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:130926567C>A	ENST00000261655.4	-	8	1442	c.1279G>T	c.(1279-1281)Gag>Tag	p.E427*	RIMBP2_ENST00000536002.1_Nonsense_Mutation_p.E335*|RIMBP2_ENST00000535703.1_Nonsense_Mutation_p.E335*	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	427	Fibronectin type-III 2.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCGAACTCCTCCTCGTTGAGG	0.572000													57	67					2.66076e-39	2.82991e-39	1	1	0
CTSG	1511	broad.mit.edu	37	14	25044531	25044531	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:25044531C>G	ENST00000216336.2	-	2	179	c.143G>C	c.(142-144)aGa>aCa	p.R48T		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	48	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CCCTCCACATCTGCTCTGACC	0.592000													114	136					0	0	1	0	0
AFF4	27125	broad.mit.edu	37	5	132270097	132270097	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:132270097C>A	ENST00000265343.5	-	3	1039	c.660G>T	c.(658-660)tgG>tgT	p.W220C	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Missense_Mutation_p.W220C	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	220	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGGAGAATCCCAGTTTGCAT	0.448000													33	49					9.17885e-22	9.54909e-22	1	1	0
MKI67	4288	broad.mit.edu	37	10	129906114	129906114	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:129906114C>G	ENST00000368654.3	-	13	4365	c.3990G>C	c.(3988-3990)aaG>aaC	p.K1330N	MKI67_ENST00000368653.3_Missense_Mutation_p.K970N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1330	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTGGCCGTCTCTTGCTGCCGG	0.502000													123	124					0	0	1	0	0
NT5DC2	64943	broad.mit.edu	37	3	52561907	52561907	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:52561907C>G	ENST00000307076.4	-	8	1162	c.762G>C	c.(760-762)ctG>ctC	p.L254L	NT5DC2_ENST00000307092.4_Silent_p.L195L|NT5DC2_ENST00000422318.2_Silent_p.L291L|NT5DC2_ENST00000459839.1_Silent_p.L266L	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	254							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		CCAGGCGGCTCAGGACAGCAA	0.602000													49	106					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144882814	144882814	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:144882814C>T	ENST00000369359.4	-	27	3654	c.3616G>A	c.(3616-3618)Gat>Aat	p.D1206N	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.D1206N|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.D1069N|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.D1069N|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.D1135N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1069					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCCATCCATCAGACATTGCT	0.512000			T	PDGFRB	MPD								116	494					0	0	1	0	0
MZF1	7593	broad.mit.edu	37	19	59073565	59073565	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:59073565C>T	ENST00000215057.2	-	6	2639	c.2079G>A	c.(2077-2079)cgG>cgA	p.R693R	AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000594234.1_3'UTR|MZF1_ENST00000599369.1_Silent_p.R693R	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	693					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		TGAGCGTGGGCCGCTGGCGGA	0.667000													7	26					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36486596	36486596	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:36486596C>T	ENST00000342292.4	-	11	2876	c.2856G>A	c.(2854-2856)agG>agA	p.R952R		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	952						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GAGATAGCATCCTTGGCTCTC	0.627000													19	2					0	0	1	0	0
CAMK1D	57118	broad.mit.edu	37	10	12811675	12811675	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:12811675G>A	ENST00000378847.3	+	5	779	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	CAMK1D_ENST00000378845.1_Missense_Mutation_p.E148K	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	148	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TTTCTAGCCCGAAAATCTCTT	0.388000													28	27					0	0	1	0	0
C7orf33	202865	broad.mit.edu	37	7	148288196	148288196	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:148288196T>A	ENST00000307003.2	+	1	540	c.179T>A	c.(178-180)tTg>tAg	p.L60*		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	60										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CAATTTAACTTGTCATATGCC	0.493000													61	87					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54859746	54859746	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:54859746G>C	ENST00000333896.5	+	16	3954	c.3569G>C	c.(3568-3570)gGa>gCa	p.G1190A	SPTBN1_ENST00000356805.4_Missense_Mutation_p.G1203A	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1203					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACCTTGGAAGGAGCTGAAGCA	0.458000													38	47					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19477120	19477120	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:19477120C>T	ENST00000375267.2	-	49	7384	c.7381G>A	c.(7381-7383)Gat>Aat	p.D2461N	UBR4_ENST00000375254.3_Missense_Mutation_p.D2461N|UBR4_ENST00000375226.2_Missense_Mutation_p.D2461N|UBR4_ENST00000375217.2_Missense_Mutation_p.D2461N			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2461					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GAGTCGCTATCTCCAGTGCCG	0.547000													203	205					0	0	1	0	0
MAPK14	1432	broad.mit.edu	37	6	36020527	36020527	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:36020527C>T	ENST00000229795.3	+	2	615	c.168C>T	c.(166-168)tcC>tcT	p.S56S	MAPK14_ENST00000229794.4_Silent_p.S56S|MAPK14_ENST00000468133.1_5'UTR|MAPK14_ENST00000310795.4_Silent_p.S56S	NM_001315.2	NP_001306.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	56	Protein kinase.				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|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|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|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|MAP kinase kinase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						AGAAGCTCTCCAGACCATTTC	0.383000													32	93					0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73615897	73615897	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:73615897G>A	ENST00000261917.3	-	8	3530	c.2537C>T	c.(2536-2538)cCg>cTg	p.P846L		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	846					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	p.P846L(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CACCTGGGACGGGCTGCTGGC	0.672000													54	84					0	0	1	0	0
POU2AF1	5450	broad.mit.edu	37	11	111225125	111225125	+	Missense_Mutation	SNP	G	G	C	rs149278202		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:111225125G>C	ENST00000393067.3	-	5	1146	c.632C>G	c.(631-633)tCt>tGt	p.S211C		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	211					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		CTCTGGGATAGAGATGGGGAG	0.622000			T	BCL6	NHL								35	12					0	0	1	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20222578	20222578	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr13:20222578G>C	ENST00000361479.5	+	4	1303	c.1235G>C	c.(1234-1236)aGa>aCa	p.R412T	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.R412T	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	412					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GAAACCAAAAGAAATGAATCC	0.318000													6	10					0	0	1	0	0
CD19	930	broad.mit.edu	37	16	28948444	28948444	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:28948444C>T	ENST00000538922.1	+	8	1247	c.1185C>T	c.(1183-1185)agC>agT	p.S395S	CD19_ENST00000567541.1_Silent_p.S395S|CD19_ENST00000324662.3_Silent_p.S395S	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	395					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GGTCCCGGAGCCCGCCGGGAG	0.692000													4	6					0	0	1	0	0
TGFB3	7043	broad.mit.edu	37	14	76427367	76427367	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:76427367C>G	ENST00000238682.3	-	6	1276	c.979G>C	c.(979-981)Gat>Cat	p.D327H		NM_003239.2	NP_003230.1	P10600	TGFB3_HUMAN	transforming growth factor, beta 3	327					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		CAGCCCAGATCCTGTCGGAAG	0.488000													54	85					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150934193	150934193	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:150934193G>A	ENST00000261800.5	-	4	3687	c.3675C>T	c.(3673-3675)acC>acT	p.T1225T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1225	Cadherin 10.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.T1225T(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCACCCTGGAGGTGGACTTCA	0.517000													37	99					0	0	1	0	0
UPK1B	7348	broad.mit.edu	37	3	118906732	118906732	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:118906732G>A	ENST00000264234.3	+	3	329	c.180G>A	c.(178-180)tgG>tgA	p.W60*	UPK1B_ENST00000497685.1_5'UTR|UPK1B_ENST00000460625.1_Nonsense_Mutation_p.W60*	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	60					epithelial cell differentiation	integral to membrane	structural molecule activity			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		GGGCTGCCTGGATCGGCATAT	0.517000													71	153					0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95680397	95680397	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:95680397G>C	ENST00000433389.2	+	10	1342	c.1152G>C	c.(1150-1152)caG>caC	p.Q384H	ESRP1_ENST00000423620.2_Missense_Mutation_p.Q384H|ESRP1_ENST00000454170.2_Missense_Mutation_p.Q384H|ESRP1_ENST00000358397.5_Missense_Mutation_p.Q384H	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	384	RRM 2.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AATATGCACAGAATGCGTTGA	0.458000													47	50					0	0	1	0	0
GOLGA1	2800	broad.mit.edu	37	9	127691531	127691531	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:127691531C>T	ENST00000373555.4	-	5	598	c.265G>A	c.(265-267)Gag>Aag	p.E89K		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	89						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TCAAGCTTCTCTTTTATCTTC	0.363000													5	42					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													3	96					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36487082	36487082	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:36487082C>T	ENST00000342292.4	-	11	2390	c.2370G>A	c.(2368-2370)ctG>ctA	p.L790L		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	790						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GCTTCCTCCTCAGCAGTGAGT	0.657000													17	2					0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154267890	154267890	+	Silent	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:154267890G>T	ENST00000285873.7	-	28	4482	c.4407C>A	c.(4405-4407)ctC>ctA	p.L1469L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1469					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGGACCTGATGAGAAGCAGGA	0.527000													16	59					9.16793e-09	9.30319e-09	1	1	0
PCNP	57092	broad.mit.edu	37	3	101304305	101304305	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:101304305C>G	ENST00000265260.3	+	3	425	c.304C>G	c.(304-306)Ctt>Gtt	p.L102V	PCNP_ENST00000296024.5_Missense_Mutation_p.L102V|PCNP_ENST00000469941.1_5'UTR|PCNP_ENST00000486406.1_Intron	NM_020357.1	NP_065090.1	Q8WW12	PCNP_HUMAN	PEST proteolytic signal containing nuclear protein	102					cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	nucleus	protein binding			large_intestine(1)|lung(1)	2						TGTTCCAACTCTTGCTCCAAA	0.284000													61	45					0	0	1	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35502453	35502453	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:35502453G>C	ENST00000599564.1	+	8	933	c.862G>C	c.(862-864)Gaa>Caa	p.E288Q	GRAMD1A_ENST00000317991.5_Missense_Mutation_p.E201Q|GRAMD1A_ENST00000504615.2_Missense_Mutation_p.L4F|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.E194Q			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	201						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGCACTGCTTGAAAAGGTGGG	0.627000													30	81					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299171	125299171	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chrX:125299171C>T	ENST00000538699.1	-	2	817	c.737G>A	c.(736-738)cGt>cAt	p.R246H	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R246H	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	246										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						ATCCCTCGGACGGATGTGGGC	0.647000													29	0					0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	56996518	56996518	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:56996518C>A	ENST00000179765.5	-	20	3512	c.3313G>T	c.(3313-3315)Gaa>Taa	p.E1105*	BAZ2A_ENST00000551812.1_Nonsense_Mutation_p.E1137*|BAZ2A_ENST00000549884.1_Nonsense_Mutation_p.E1135*|BAZ2A_ENST00000379441.3_Nonsense_Mutation_p.E1107*			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1137					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TCTGTTCCTTCTACAAAGATA	0.493000													20	33					3.6726e-16	3.7889e-16	1	1	0
AKAP3	10566	broad.mit.edu	37	12	4724985	4724985	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:4724985C>T	ENST00000545990.2	-	6	3006	c.2482G>A	c.(2482-2484)Gag>Aag	p.E828K	AKAP3_ENST00000228850.1_Missense_Mutation_p.E828K|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	828					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CGCTCCTTCTCATAGCGCAGC	0.562000													101	142					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7414837	7414837	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:7414837G>T	ENST00000338316.4	+	2	451	c.362G>T	c.(361-363)gGa>gTa	p.G121V		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	121					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GTTGCCATGGGATACCTGTTC	0.428000													33	31					8.16721e-17	8.4399e-17	1	1	0
SH3BP5	9467	broad.mit.edu	37	3	15300495	15300495	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:15300495C>G	ENST00000383791.3	-	7	952	c.732G>C	c.(730-732)aaG>aaC	p.K244N	SH3BP5_ENST00000426925.1_Missense_Mutation_p.K87N|SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5-AS1_ENST00000436602.1_RNA|SH3BP5_ENST00000408919.3_Missense_Mutation_p.K87N|SH3BP5_ENST00000253688.5_Missense_Mutation_p.K87N	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	244					intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						TCAGGGCCATCTTGTACTCGC	0.557000													46	62					0	0	1	0	0
FBXL8	55336	broad.mit.edu	37	16	67195736	67195736	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:67195736C>T	ENST00000258200.3	+	2	225	c.48C>T	c.(46-48)atC>atT	p.I16I	FBXL8_ENST00000521920.1_Silent_p.I16I|FBXL8_ENST00000519917.1_Silent_p.I16I|FBXL8_ENST00000518148.1_Silent_p.I16I			Q96CD0	FBXL8_HUMAN	F-box and leucine-rich repeat protein 8	16	F-box.						protein binding			endometrium(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)		TGGCACTCATCTTCCGCCACC	0.682000													13	17					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56575311	56575311	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:56575311G>C	ENST00000394023.3	-	10	1016	c.911C>G	c.(910-912)tCt>tGt	p.S304C	SMARCC2_ENST00000267064.4_Missense_Mutation_p.S304C|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.S304C|SMARCC2_ENST00000550164.1_Missense_Mutation_p.S304C	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	304					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGGTGAAGGAGAGGGGGAGCG	0.507000													29	45					0	0	1	0	0
PUS7	54517	broad.mit.edu	37	7	105111175	105111175	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:105111175G>C	ENST00000356362.2	-	11	1572	c.1358C>G	c.(1357-1359)tCa>tGa	p.S453*	PUS7_ENST00000469408.1_Nonsense_Mutation_p.S453*	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	453	TRUD.				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TCCATATTTTGAAAGTCCTCG	0.423000													92	109					0	0	1	0	0
PTCHD3P1	387647	broad.mit.edu	37	10	29710308	29710308	+	RNA	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:29710308C>G	ENST00000427063.2	+	0	1032				PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000537908.1_RNA|PTCHD3P1_ENST00000430295.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000445521.1_RNA	NR_003930.1																						AGGGCCCCATCAAGTAGTCAT	0.498000													23	23					0	0	1	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49965915	49965915	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:49965915G>A	ENST00000293350.4	+	8	1164	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q	ALDH16A1_ENST00000455361.2_Missense_Mutation_p.R283Q|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.R171Q|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.R169Q	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	334							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CGGAGTGGCCGAGGGCTGGAT	0.672000													31	65					0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151111130	151111130	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:151111130G>C	ENST00000341697.3	-	7	2123	c.432C>G	c.(430-432)ttC>ttG	p.F144L				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	144	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACACAGGGCTGAATGAGTTCG	0.527000													36	53					0	0	1	0	0
EOMES	8320	broad.mit.edu	37	3	27761760	27761760	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:27761760T>C	ENST00000295743.4	-	2	1141	c.938A>G	c.(937-939)tAc>tGc	p.Y313C	EOMES_ENST00000537516.1_Missense_Mutation_p.Y18C|EOMES_ENST00000449599.1_Missense_Mutation_p.Y313C|EOMES_ENST00000461503.1_5'UTR			O95936	EOMES_HUMAN	eomesodermin	313					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						GAACACATTGTAGTGGGCAGT	0.502000													194	234					0	0	1	0	0
LDHD	197257	broad.mit.edu	37	16	75150574	75150574	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:75150574C>G	ENST00000300051.4	-	1	91	c.45G>C	c.(43-45)tgG>tgC	p.W15C	LDHD_ENST00000450168.2_Missense_Mutation_p.W15C	NM_153486.3	NP_705690.2	Q86WU2	LDHD_HUMAN	lactate dehydrogenase D	15							D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding	p.W15C(1)		endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						AGTAGCCCCTCCAGGGGAACA	0.627000													70	112					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40399707	40399707	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:40399707G>C	ENST00000338305.6	-	2	1688	c.1146C>G	c.(1144-1146)ctC>ctG	p.L382L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	382						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGCTGTTGCTGAGGTGTGGCA	0.652000													23	50					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5745940	5745940	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:5745940C>G	ENST00000381624.3	+	9	735	c.674C>G	c.(673-675)tCa>tGa	p.S225*	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	225						integral to membrane											TTCAAGTACTCAGATCACCCC	0.542000													85	249					0	0	1	0	0
VPS18	57617	broad.mit.edu	37	15	41192994	41192994	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:41192994G>A	ENST00000220509.5	+	4	2317	c.1978G>A	c.(1978-1980)Gag>Aag	p.E660K	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	660					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGGGGAGACTGAGCAGGCCAT	0.637000													94	105					0	0	1	0	0
LDLRAD2	401944	broad.mit.edu	37	1	22141309	22141309	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:22141309C>T	ENST00000344642.2	+	2	691	c.504C>T	c.(502-504)ttC>ttT	p.F168F	LDLRAD2_ENST00000543870.1_Silent_p.F168F	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	168						integral to membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		TCACCTCTTTCCGTCTGGGTG	0.711000													8	9					0	0	1	0	0
IFI44L	10964	broad.mit.edu	37	1	79093672	79093672	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:79093672G>C	ENST00000370751.5	+	2	251	c.72G>C	c.(70-72)ttG>ttC	p.L24F	IFI44L_ENST00000476521.1_Intron|IFI44L_ENST00000342282.3_Intron	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like							cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ATGTTTCTTTGAGTCTTCTCT	0.363000													32	24					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328479	88328479	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr13:88328479C>G	ENST00000325089.6	+	2	1055	c.836C>G	c.(835-837)tCc>tGc	p.S279C	SLITRK5_ENST00000400028.3_Missense_Mutation_p.S38C	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	279	LRRCT 1.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GACGAGGTATCCAAGCAGGAA	0.542000													32	77					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20644840	20644840	+	RNA	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:20644840C>T	ENST00000428453.1	-	0	3107																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TGAGGCATTTCATGTCCCTCG	0.488000													24	59					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17701534	17701534	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:17701534G>A	ENST00000353383.1	+	3	5741	c.5272G>A	c.(5272-5274)Gac>Aac	p.D1758N	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1758						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCCCAGGCCTGACGGCCCAGC	0.697000													9	0					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12123624	12123624	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:12123624C>G	ENST00000379388.2	+	4	3928	c.3596C>G	c.(3595-3597)tCa>tGa	p.S1199*		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1199					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTTGCACTATCAGACGCTCTC	0.512000													4	31					0	0	1	0	0
DRC1	92749	broad.mit.edu	37	2	26624903	26624903	+	Nonsense_Mutation	SNP	G	G	T	rs149082901		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:26624903G>T	ENST00000288710.2	+	1	120	c.46G>T	c.(46-48)Gag>Tag	p.E16*		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		GAACGTGGACGAGCACTTGTC	0.677000													20	28					2.89027e-11	2.94256e-11	1	1	0
LRRC16A	55604	broad.mit.edu	37	6	25619782	25619782	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:25619782G>A	ENST00000329474.6	+	37	4455	c.4087G>A	c.(4087-4089)Gaa>Aaa	p.E1363K	LRRC16A_ENST00000476458.1_3'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1363					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CTCCGGGGAAGAAGCAGAAAA	0.498000													62	45					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108106537	108106537	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:108106537G>C	ENST00000278616.4	+	5	857	c.472G>C	c.(472-474)Gaa>Caa	p.E158Q	ATM_ENST00000452508.2_Missense_Mutation_p.E158Q	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	158					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ATACTGGTGTGAAATATCTCA	0.363000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			64	21					0	0	1	0	0
SMURF1	57154	broad.mit.edu	37	7	98634777	98634777	+	Silent	SNP	G	G	A	rs148999069	byFrequency	TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:98634777G>A	ENST00000361125.1	-	16	2119	c.1800C>T	c.(1798-1800)atC>atT	p.I600I	SMURF1_ENST00000361368.2_Silent_p.I574I|AC004893.11_ENST00000468960.2_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	600	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			ACTGGGCTTCGATTCCTCTCA	0.468000											OREG0018188	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	79					0	0	1	0	0
RNF40	9810	broad.mit.edu	37	16	30777495	30777495	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:30777495G>A	ENST00000324685.6	+	9	1440	c.1005G>A	c.(1003-1005)ctG>ctA	p.L335L	RNF40_ENST00000402121.3_Intron|RNF40_ENST00000357890.5_Intron|RNF40_ENST00000563683.1_Intron	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	335					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)			TTGAGATGCTGAATGCAGAGT	0.592000													53	88					0	0	1	0	0
SYNGR2	9144	broad.mit.edu	37	17	76167833	76167833	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:76167833C>T	ENST00000225777.3	+	4	550	c.491C>T	c.(490-492)tCc>tTc	p.S164F	SYNGR2_ENST00000585591.1_Missense_Mutation_p.S164F|SYNGR2_ENST00000589711.1_3'UTR|SYNGR2_ENST00000592456.1_3'UTR|SYNGR2_ENST00000590201.1_Missense_Mutation_p.S108F|SYNGR2_ENST00000588282.1_Missense_Mutation_p.P194S			O43760	SNG2_HUMAN	synaptogyrin 2	164	MARVEL.					integral to plasma membrane				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			GTGCTGGCCTCCCTGGCCTAC	0.652000													94	15					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110492333	110492333	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:110492333G>C	ENST00000378402.5	+	55	9396	c.9292G>C	c.(9292-9294)Gaa>Caa	p.E3098Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3098	G8 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTCTTACAGAGAAGTTGTTTT	0.353000										HNSCC(38;0.096)			5	3					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071775	9071775	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:9071775C>G	ENST00000397910.4	-	3	15874	c.15671G>C	c.(15670-15672)aGt>aCt	p.S5224T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5226	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACCCCTGTACTGGAGACCTC	0.507000													88	53					0	0	1	0	0
BCMO1	53630	broad.mit.edu	37	16	81303925	81303925	+	Missense_Mutation	SNP	C	C	G	rs141341532	byFrequency	TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:81303925C>G	ENST00000258168.2	+	7	1466	c.1005C>G	c.(1003-1005)ttC>ttG	p.F335L	BCMO1_ENST00000425577.2_Missense_Mutation_p.F266L	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	335					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						ACCAGCTCTTCTACCTGGCCA	0.577000													46	71					0	0	1	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142557645	142557645	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:142557645C>G	ENST00000295992.3	-	5	983	c.677G>C	c.(676-678)aGa>aCa	p.R226T	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.R226T	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	226	CUB 2.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CTTTCCAATTCTTCTAGCATC	0.383000													73	83					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103899460	103899460	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:103899460G>C	ENST00000278070.2	+	5	1234	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q	PPRC1_ENST00000413464.2_Missense_Mutation_p.E399Q	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GTCAGAGACAGAGGCTGCTGT	0.562000													137	152					0	0	1	0	0
CANX	821	broad.mit.edu	37	5	179143168	179143168	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:179143168C>T	ENST00000247461.4	+	8	984	c.784C>T	c.(784-786)Ctg>Ttg	p.L262L	CANX_ENST00000452673.2_Silent_p.L262L|CANX_ENST00000415618.2_Silent_p.L297L|CANX_ENST00000512607.2_Silent_p.L154L|CANX_ENST00000504734.1_Silent_p.L262L|CANX_ENST00000503126.1_3'UTR	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	262					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	TAGTGGAAATCTGCTCAATGA	0.388000													61	57					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77642919	77642919	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr13:77642919G>C	ENST00000407578.2	-	70	12218	c.11952C>G	c.(11950-11952)gtC>gtG	p.V3984V	MYCBP2_ENST00000357337.6_Silent_p.V3946V|MYCBP2_ENST00000544440.2_Silent_p.V3946V	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3946					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)		ATTCTTCACGGACTCTGGTAG	0.398000													59	56					0	0	1	0	0
ATXN2	6311	broad.mit.edu	37	12	111926344	111926344	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:111926344G>C	ENST00000377617.3	-	15	2817	c.2656C>G	c.(2656-2658)Cag>Gag	p.Q886E	ATXN2_ENST00000608853.1_Missense_Mutation_p.Q726E|ATXN2_ENST00000389153.4_Missense_Mutation_p.Q621E|ATXN2_ENST00000550104.1_Missense_Mutation_p.Q886E|ATXN2_ENST00000542287.2_Missense_Mutation_p.Q621E|ATXN2_ENST00000535949.1_Missense_Mutation_p.Q597E	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	886					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CTGGAAGTCTGAACCCCTTGG	0.498000													33	64					0	0	1	0	0
DERL3	91319	broad.mit.edu	37	22	24179997	24179997	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr22:24179997G>A	ENST00000406855.3	-	5	390	c.372C>T	c.(370-372)ctC>ctT	p.L124L	DERL3_ENST00000318109.7_Silent_p.L124L|DERL3_ENST00000476077.1_Silent_p.L124L|DERL3_ENST00000404056.1_Intron	NM_001002862.2|NM_001135751.1|NM_198440.3	NP_001002862.1|NP_001129223.1|NP_940842.2	Q96Q80	DERL3_HUMAN	derlin 3	124					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process	integral to endoplasmic reticulum membrane	protein binding			ovary(1)|prostate(1)|skin(1)	3						GCATGGCCATGAGGGCCTGGC	0.677000													33	51					0	0	1	0	0
C10orf90	118611	broad.mit.edu	37	10	128192934	128192934	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:128192934G>C	ENST00000284694.7	-	3	955	c.835C>G	c.(835-837)Caa>Gaa	p.Q279E	C10orf90_ENST00000544758.1_Missense_Mutation_p.Q376E|C10orf90_ENST00000356858.3_Missense_Mutation_p.Q232E|C10orf90_ENST00000392694.1_Missense_Mutation_p.Q232E|C10orf90_ENST00000454341.1_Missense_Mutation_p.Q279E|C10orf90_ENST00000368674.1_5'UTR	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	279										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTGGCAATTTGAGGTGGCTCA	0.502000											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	76	144					0	0	1	0	0
PLN	5350	broad.mit.edu	37	6	118880088	118880088	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:118880088G>C	ENST00000357525.5	+	2	196	c.4G>C	c.(4-6)Gag>Cag	p.E2Q	CEP85L_ENST00000368491.3_Intron|CEP85L_ENST00000360290.3_Intron|CEP85L_ENST00000368488.5_Intron|CEP85L_ENST00000392500.3_Intron|CEP85L_ENST00000419517.2_Intron	NM_002667.3	NP_002658.1	P26678	PPLA_HUMAN	phospholamban	2					blood circulation|regulation of calcium ion transport	integral to membrane|mitochondrial membrane|sarcoplasmic reticulum	calcium channel regulator activity|protein binding			large_intestine(1)|lung(3)	4		all_cancers(87;0.0916)|all_epithelial(87;0.131)		GBM - Glioblastoma multiforme(226;0.0325)|all cancers(137;0.154)|OV - Ovarian serous cystadenocarcinoma(136;0.176)		TGGTATCATGGAGAAAGTCCA	0.403000													17	17					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12122571	12122571	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:12122571C>T	ENST00000379388.2	+	4	2875	c.2543C>T	c.(2542-2544)tCa>tTa	p.S848L		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	848					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ACAGGTTATTCAGCAGTACCT	0.398000													39	107					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145075664	145075664	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:145075664C>A	ENST00000369359.4	-	1	237	c.199G>T	c.(199-201)Gaa>Taa	p.E67*	PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.E67*|PDE4DIP_ENST00000369345.4_Nonsense_Mutation_p.E67*|PDE4DIP_ENST00000369348.3_Nonsense_Mutation_p.E67*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.E67K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTGCTTCTTCCTCCTCGGCC	0.721000			T	PDGFRB	MPD								25	208					6.05902e-23	6.35683e-23	1	1	0
LAMB4	22798	broad.mit.edu	37	7	107689947	107689947	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:107689947G>A	ENST00000388781.3	-	27	4029	c.3946C>T	c.(3946-3948)Cac>Tac	p.H1316Y	LAMB4_ENST00000205386.4_Missense_Mutation_p.H1316Y|LAMB4_ENST00000388780.3_Missense_Mutation_p.H1316Y	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1316	Domain II.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GATGATATGTGATAATATTTC	0.284000													27	47					0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91341444	91341444	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:91341444G>A	ENST00000355112.3	+	17	3353	c.3235G>A	c.(3235-3237)Gac>Aac	p.D1079N	BLM_ENST00000560509.1_Missense_Mutation_p.D1079N|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1079					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AGATGTGACTGACGATGTGAA	0.294000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				32	32					0	0	1	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115607068	115607068	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:115607068G>A	ENST00000361384.2	-	3	3069	c.2152C>T	c.(2152-2154)Cag>Tag	p.Q718*	DCLRE1A_ENST00000369305.1_Nonsense_Mutation_p.Q718*	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	718					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		ACGCCATACTGAAAGGCATCA	0.378000								Other identified genes with known or suspected DNA repair function					47	53					0	0	1	0	0
C2orf53	339779	broad.mit.edu	37	2	27360541	27360541	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:27360541C>T	ENST00000335524.3	-	3	1182	c.657G>A	c.(655-657)ctG>ctA	p.L219L		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	219										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCGGTGCCCCAGCTGGACCA	0.662000													36	33					0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41628036	41628036	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:41628036G>C	ENST00000331105.2	+	6	892	c.820G>C	c.(820-822)Gag>Cag	p.E274Q		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	274					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CAAGATGGCAGAGGTAATCCC	0.602000													32	21					0	0	1	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87448115	87448115	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:87448115G>A	ENST00000268616.4	-	10	1314	c.1097C>T	c.(1096-1098)tCg>tTg	p.S366L		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	366					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CGGCGGGGCCGAGGGGTTCAG	0.637000													24	31					0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38860835	38860835	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:38860835C>G	ENST00000310301.4	-	6	406	c.352G>C	c.(352-354)Gaa>Caa	p.E118Q	VPS41_ENST00000395969.2_Missense_Mutation_p.E93Q	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	118					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TCGTGAAATTCTTCTCCAGAA	0.368000													75	102					0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23998926	23998926	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:23998926C>G	ENST00000546136.1	-	2	435	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	SOX5_ENST00000541536.1_Missense_Mutation_p.E145Q|SOX5_ENST00000451604.2_Missense_Mutation_p.E158Q|SOX5_ENST00000545921.1_Missense_Mutation_p.E148Q|SOX5_ENST00000381381.2_Missense_Mutation_p.E145Q|SOX5_ENST00000441133.2_Missense_Mutation_p.E123Q|SOX5_ENST00000541847.1_Missense_Mutation_p.E148Q|SOX5_ENST00000537393.1_Missense_Mutation_p.E123Q|SOX5_ENST00000309359.1_Missense_Mutation_p.E145Q			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	158					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CCTTCCGGCTCGTTTTTGATG	0.408000													32	62					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32046817	32046817	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:32046817G>A	ENST00000375244.3	-	11	4569	c.4368C>T	c.(4366-4368)ggC>ggT	p.G1456G	TNXB_ENST00000375247.2_Silent_p.G1456G			P22105	TENX_HUMAN	tenascin XB	1543					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CACCTGTCACGCCCACGGCGG	0.662000													47	27					0	0	1	0	0
UNC93B1	81622	broad.mit.edu	37	11	67759316	67759316	+	Missense_Mutation	SNP	C	C	T	rs4014596		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:67759316C>T	ENST00000227471.2	-	12	1571	c.1492G>A	c.(1492-1494)Gtg>Atg	p.V498M	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	499					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome		p.V498M(1)									ACCAGCAGCACCGCCAGCTTA	0.741000													3	28					0	0	1	0	0
SMPD4	55627	broad.mit.edu	37	2	130911411	130911411	+	Nonsense_Mutation	SNP	G	G	C	rs142449057		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:130911411G>C	ENST00000409031.1	-	17	3022	c.1874C>G	c.(1873-1875)tCa>tGa	p.S625*	SMPD4_ENST00000339679.7_Nonsense_Mutation_p.S483*|SMPD4_ENST00000431183.2_Nonsense_Mutation_p.S523*|SMPD4_ENST00000426662.2_Nonsense_Mutation_p.S261*|SMPD4_ENST00000351288.6_Nonsense_Mutation_p.S596*|SMPD4_ENST00000452225.2_Nonsense_Mutation_p.S366*|SMPD4_ENST00000453750.1_Nonsense_Mutation_p.S374*|SMPD4_ENST00000443958.2_Nonsense_Mutation_p.S289*	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	586					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GCCCAGCCATGAGAGGAAGGA	0.592000													138	76					0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170028027	170028027	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:170028027C>G	ENST00000284637.9	-	11	2810	c.2469G>C	c.(2467-2469)ttG>ttC	p.L823F		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	823						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TAGACTCATTCAAGACAGGAC	0.483000													61	54					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100569525	100569525	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:100569525C>G	ENST00000471714.1	-	16	1535	c.1426G>C	c.(1426-1428)Gaa>Caa	p.E476Q	ABI3BP_ENST00000495063.1_Missense_Mutation_p.E476Q|ABI3BP_ENST00000284322.5_Missense_Mutation_p.E427Q			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	427	Pro-rich.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CTTGGCTGTTCAAGAGTTCTA	0.358000													32	67					0	0	1	0	0
POLM	27434	broad.mit.edu	37	7	44119193	44119193	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:44119193C>G	ENST00000242248.5	-	4	720	c.619G>C	c.(619-621)Gaa>Caa	p.E207Q	POLM_ENST00000335195.6_Missense_Mutation_p.E207Q|POLM_ENST00000395831.3_Missense_Mutation_p.E207Q	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	207					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						GAGGAGTGTTCTCCAAAGTGG	0.637000								DNA polymerases (catalytic subunits)					42	67					0	0	1	0	0
SEC11A	23478	broad.mit.edu	37	15	85259297	85259297	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:85259297G>C	ENST00000268220.7	-	1	650	c.10C>G	c.(10-12)Cta>Gta	p.L4V	SEC11A_ENST00000560266.1_Missense_Mutation_p.L4V|SEC11A_ENST00000455959.3_5'UTR|SEC11A_ENST00000558134.1_Missense_Mutation_p.L4V	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	SEC11 homolog A (S. cerevisiae)	4					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	protein binding|serine-type peptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			AAAAAGTCTAGAGACAGCATG	0.622000													21	23					0	0	1	0	0
BCAT2	587	broad.mit.edu	37	19	49300454	49300454	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:49300454C>G	ENST00000402551.1	-	8	1332	c.712G>C	c.(712-714)Gat>Cat	p.D238H	BCAT2_ENST00000598162.1_Missense_Mutation_p.D278H|BCAT2_ENST00000597011.1_Missense_Mutation_p.D238H|BCAT2_ENST00000545387.2_Missense_Mutation_p.D186H|BCAT2_ENST00000599246.1_Missense_Mutation_p.D186H|BCAT2_ENST00000316273.6_Missense_Mutation_p.D278H	NM_001284325.1	NP_001271254.1	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	278						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	TTACCCCCATCTTCGTGGGTC	0.607000													16	17					0	0	1	0	0
DSCR10	259234	broad.mit.edu	37	21	39580597	39580597	+	RNA	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr21:39580597G>C	ENST00000432141.1	+	0	719					NR_027695.1																						GAAACATTTAGAGAACAAACA	0.338000													66	92					0	0	1	0	0
EMILIN1	11117	broad.mit.edu	37	2	27302012	27302012	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:27302012C>G	ENST00000380320.4	+	1	578	c.79C>G	c.(79-81)Cga>Gga	p.R27G		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	27					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTACCCTCCTCGAGGTTTCAG	0.716000													12	18					0	0	1	0	0
GPR101	83550	broad.mit.edu	37	X	136113144	136113144	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chrX:136113144C>G	ENST00000298110.1	-	1	689	c.690G>C	c.(688-690)aaG>aaC	p.K230N		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	230						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					AGCTGTGTCTCTTGACATTGT	0.522000													114	11					0	0	1	0	0
MRPL20	55052	broad.mit.edu	37	1	1341062	1341062	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:1341062C>G	ENST00000482352.1	-	3	475	c.403G>C	c.(403-405)Gac>Cac	p.D135H	MRPL20_ENST00000344843.7_Intron|RN7SL657P_ENST00000582431.1_RNA|MRPL20_ENST00000493287.1_Intron			Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20	0							protein binding|rRNA binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		gcccagaagtcagtctccagg	0.532000													6	14					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42609617	42609617	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr22:42609617C>T	ENST00000359486.3	-	1	1831	c.1695G>A	c.(1693-1695)caG>caA	p.Q565Q	TCF20_ENST00000335626.4_Silent_p.Q565Q	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGGGTTCATTCTGAGCACCTT	0.582000													41	54					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125555701	125555701	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:125555701G>A	ENST00000431078.1	+	19	3382	c.3018G>A	c.(3016-3018)acG>acA	p.T1006T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1006					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)		AGGCTGGCACGTCGGTTACTT	0.423000													8	6					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													6	93					0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75498861	75498861	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:75498861G>C	ENST00000360639.2	+	2	792	c.472G>C	c.(472-474)Gac>Cac	p.D158H	C15orf39_ENST00000567617.1_Missense_Mutation_p.D158H|C15orf39_ENST00000394987.4_Missense_Mutation_p.D158H			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	158										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						ACTGGATGTTGACTGGACTCT	0.612000													42	71					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41245834	41245834	+	Missense_Mutation	SNP	C	C	T	rs80357640		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:41245834C>T	ENST00000309486.4	-	9	1853	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.E572K|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.E572K|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.E572K|BRCA1_ENST00000493795.1_Missense_Mutation_p.E525K|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.E572K|BRCA1_ENST00000586385.1_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	572					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCGAGTGATTCTATTGGGTTA	0.338000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			90	4					0	0	1	0	0
FBXO21	23014	broad.mit.edu	37	12	117583954	117583954	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:117583954C>G	ENST00000427718.2	-	12	1878	c.1804G>C	c.(1804-1806)Gag>Cag	p.E602Q	FBXO21_ENST00000330622.5_Missense_Mutation_p.E609Q	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	609					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		TAGACAAACTCCAGATCTTCT	0.453000													48	86					0	0	1	0	0
DNAAF3	352909	broad.mit.edu	37	19	55672758	55672758	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:55672758C>A	ENST00000527223.2	-	7	897	c.896G>T	c.(895-897)cGa>cTa	p.R299L	DNAAF3_ENST00000391720.4_Missense_Mutation_p.R278L|DNAAF3_ENST00000455045.1_Missense_Mutation_p.R177L|DNAAF3_ENST00000524407.2_Missense_Mutation_p.R231L|CTD-2587H24.5_ENST00000591665.1_RNA	NM_001256714.1	NP_001243643	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	231																	CCGCCAGCGTCGGAACTCCTG	0.657000													6	16					0.00307968	0.00309971	1	1	0
LRRC66	339977	broad.mit.edu	37	4	52861441	52861441	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:52861441C>G	ENST00000343457.3	-	4	1753	c.1747G>C	c.(1747-1749)Gaa>Caa	p.E583Q		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	583						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GCTGTTATTTCTCCGGAGAGG	0.498000													41	93					0	0	1	0	0
LRRC41	10489	broad.mit.edu	37	1	46751935	46751935	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:46751935G>C	ENST00000343304.6	-	4	879	c.594C>G	c.(592-594)ctC>ctG	p.L198L	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	198										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGCGGAACTTGAGAGTGTGCA	0.592000													40	45					0	0	1	0	0
RUFY3	22902	broad.mit.edu	37	4	71634327	71634327	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:71634327G>C	ENST00000226328.4	+	5	1208	c.645G>C	c.(643-645)ctG>ctC	p.L215L	RUFY3_ENST00000381006.3_Silent_p.L215L|RUFY3_ENST00000536664.1_Silent_p.L199L|RUFY3_ENST00000417478.2_Silent_p.L275L|RUFY3_ENST00000502653.1_Silent_p.L162L	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	215	RUN.				negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			TGGTGGGTCTGAATGTCATTG	0.438000													70	69					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8244134	8244134	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr18:8244134G>C	ENST00000332175.8	+	15	3416	c.2379G>C	c.(2377-2379)aaG>aaC	p.K793N	PTPRM_ENST00000400053.4_Missense_Mutation_p.K731N|PTPRM_ENST00000444013.1_Missense_Mutation_p.K580N|PTPRM_ENST00000400060.4_Missense_Mutation_p.K793N|PTPRM_ENST00000580170.1_Missense_Mutation_p.K793N	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	793					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CAATGGACAAGAGCTATGCTG	0.463000													74	90					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151877000	151877000	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:151877000C>G	ENST00000355193.2	-	37	7579	c.7361G>C	c.(7360-7362)aGa>aCa	p.R2454T	KMT2C_ENST00000262189.6_Missense_Mutation_p.R2454T					lysine (K)-specific methyltransferase 2C																		AACAGCATATCTAGGTCCTAA	0.478000													86	99					0	0	1	0	0
CCM2	83605	broad.mit.edu	37	7	45115443	45115443	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:45115443G>A	ENST00000381112.3	+	10	1864	c.1185G>A	c.(1183-1185)gtG>gtA	p.V395V	CCM2_ENST00000541586.1_Silent_p.V316V|CCM2_ENST00000544363.1_Silent_p.V283V|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000258781.6_Silent_p.V374V|CCM2_ENST00000474617.1_Silent_p.V277V|CCM2_ENST00000475551.1_Silent_p.V368V	NM_001029835.2	NP_001025006.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	374					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CCATTGGCGTGAAGGATGGCC	0.612000													54	59					0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27772741	27772741	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:27772741G>A	ENST00000333743.6	+	8	1282	c.1028G>A	c.(1027-1029)tGt>tAt	p.C343Y	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	343					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		TATTCCAGCTGTAGAAAACCA	0.522000													11	15					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235929543	235929543	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:235929543C>T	ENST00000389794.3	-	21	6131	c.5957G>A	c.(5956-5958)cGa>cAa	p.R1986Q	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.R1986Q			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1986					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ACAAACCTCTCGGGGCATGGG	0.328000													121	123					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10342591	10342591	+	Splice_Site	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:10342591G>A	ENST00000377086.1	+	15	1636	c.1434G>A	c.(1432-1434)aaG>aaA	p.K478K	KIF1B_ENST00000377093.4_Splice_Site_p.K432K|KIF1B_ENST00000263934.6_Splice_Site_p.K432K|KIF1B_ENST00000377081.1_Splice_Site_p.K478K|KIF1B_ENST00000377083.1_Splice_Site_p.K432K			O60333	KIF1B_HUMAN	kinesin family member 1B	478					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AACGTTTAAAGGTAAGTAATA	0.423000													41	89					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55161411	55161411	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:55161411C>T	ENST00000257290.5	+	23	3573	c.3242C>T	c.(3241-3243)tCa>tTa	p.S1081L	FIP1L1_ENST00000507166.1_Missense_Mutation_p.S841L	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1081	Ser-rich.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ATAGACTCTTCAGACCTGGTG	0.517000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			33	100					0	0	1	0	0
RXRA	6256	broad.mit.edu	37	9	137328351	137328351	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:137328351C>T	ENST00000540193.1	+	9	1912	c.989C>T	c.(988-990)tCc>tTc	p.S330F	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000481739.1_Missense_Mutation_p.S427F			P19793	RXRA_HUMAN	retinoid X receptor, alpha	427	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GCTCTGCGCTCCATCGGGCTC	0.607000													71	105					0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160262955	160262955	+	Splice_Site	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:160262955C>T	ENST00000241704.7	-	27	3053		c.e27+1		COPA_ENST00000368069.3_Splice_Site	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha						COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGTTACTTACCCGCATGGCT	0.468000													51	226					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228467882	228467882	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:228467882C>T	ENST00000570156.2	+	34	9027	c.8953C>T	c.(8953-8955)Cgg>Tgg	p.R2985W	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.R2556W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2556W|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1403W|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1986	Ig-like 29.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCTTGCAGCGCGGGAGGTGAC	0.642000													55	73					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78796359	78796359	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:78796359G>C	ENST00000545128.1	+	16	2587	c.2049G>C	c.(2047-2049)aaG>aaC	p.K683N	PCSK5_ENST00000376752.4_Missense_Mutation_p.K683N	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	683	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ACGCCGACAAGAAGCGCTGCA	0.522000													26	52					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5155043	5155043	+	Missense_Mutation	SNP	G	G	A	rs139805781	byFrequency	TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:5155043G>A	ENST00000252321.3	+	1	1959	c.1730G>A	c.(1729-1731)cGa>cAa	p.R577Q		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	577						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GACAGTGCCCGAAGGGGCAGC	0.642000													25	33					0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107096817	107096817	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:107096817C>G	ENST00000261058.1	+	1	630	c.383C>G	c.(382-384)tCt>tGt	p.S128C		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	128										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GATATCCTCTCTATGAAAGAA	0.393000													29	30					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30673848	30673848	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:30673848G>C	ENST00000376406.3	-	10	3759	c.3112C>G	c.(3112-3114)Ctg>Gtg	p.L1038V	MDC1_ENST00000376405.2_Missense_Mutation_p.L774V|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1038	Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GTAGGAGGCAGACAAGCATCT	0.517000								Other conserved DNA damage response genes					41	35					0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3511904	3511904	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:3511904G>C	ENST00000356575.4	-	3	600	c.374C>G	c.(373-375)tCg>tGg	p.S125W		NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	125	EGF-like 1.|EMI.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCACTCACCCGAGAGGCAGCC	0.682000													40	39					0	0	1	0	0
SEC14L2	23541	broad.mit.edu	37	22	30803141	30803141	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr22:30803141G>C	ENST00000312932.9	+	4	492	c.232G>C	c.(232-234)Gag>Cag	p.E78Q	SEC14L2_ENST00000402592.3_Intron|SEC14L2_ENST00000405717.3_Missense_Mutation_p.E78Q|SEC14L2_ENST00000403484.1_Intron|SEC14L2_ENST00000459728.1_3'UTR	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	78	CRAL-TRIO.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	GCAGCCTCCAGAGGTGAGCAC	0.473000													30	29					0	0	1	0	0
PUS10	150962	broad.mit.edu	37	2	61175207	61175207	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:61175207G>A	ENST00000316752.6	-	16	1683	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	PUS10_ENST00000407787.1_Silent_p.F474F	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	474					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			AGTGGAGGCGGAAGTGGTGCT	0.547000													116	130					0	0	1	0	0
PIGG	54872	broad.mit.edu	37	4	517589	517589	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:517589G>A	ENST00000453061.2	+	9	2062	c.1956G>A	c.(1954-1956)tgG>tgA	p.W652*	PIGG_ENST00000383028.4_Nonsense_Mutation_p.W519*|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000504346.1_Nonsense_Mutation_p.W563*|PIGG_ENST00000310340.5_Nonsense_Mutation_p.W644*	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	652					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GCGAGAAGTGGATGGTGCTGG	0.657000													28	15					0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73727502	73727502	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:73727502G>A	ENST00000427855.1	+	17	2173	c.2071G>A	c.(2071-2073)Ggg>Agg	p.G691R	PAPLN_ENST00000555445.1_Missense_Mutation_p.G691R|PAPLN_ENST00000340738.5_Missense_Mutation_p.G664R|PAPLN_ENST00000554301.1_Missense_Mutation_p.G691R|PAPLN_ENST00000381166.3_Missense_Mutation_p.G691R			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	691						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TGACAGCACCGGGGGCATGCC	0.637000													26	19					0	0	1	0	0
PCIF1	63935	broad.mit.edu	37	20	44571881	44571881	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr20:44571881C>T	ENST00000372409.3	+	8	1183	c.819C>T	c.(817-819)atC>atT	p.I273I		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	273						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						ACATTCCTATCAGGTACAGCT	0.517000													57	85					0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66501996	66501996	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:66501996C>T	ENST00000383703.3	-	3	955	c.352G>A	c.(352-354)Gtc>Atc	p.V118I	LRIG1_ENST00000273261.3_Missense_Mutation_p.V118I			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	118						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		AAGAGAGAGACGACATGTGAT	0.483000													97	227					0	0	1	0	0
ZC3H18	124245	broad.mit.edu	37	16	88677720	88677720	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:88677720C>G	ENST00000301011.5	+	8	1451	c.1251C>G	c.(1249-1251)cgC>cgG	p.R417R	ZC3H18_ENST00000452588.2_Silent_p.R441R	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	417						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		agcgcgagcgcgagcgggagc	0.662000													2	5					0	0	1	0	0
EDNRB	1910	broad.mit.edu	37	13	78474013	78474013	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr13:78474013C>G	ENST00000377211.4	-	7	1597	c.1445G>C	c.(1444-1446)aGa>aCa	p.R482T	EDNRB_ENST00000334286.5_Missense_Mutation_p.R392T|EDNRB_ENST00000446573.1_Missense_Mutation_p.R392T	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	392					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GTTTTTGAATCTTTTGCTCAC	0.338000													39	36					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157256700	157256700	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:157256700C>G	ENST00000346085.5	+	5	2028	c.2027C>G	c.(2026-2028)tCa>tGa	p.S676*	ARID1B_ENST00000275248.4_Nonsense_Mutation_p.S605*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.S663*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.S663*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	663					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GAAAGACCATCAAGTTTACCA	0.373000													17	58					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27106492	27106492	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:27106492G>T	ENST00000324856.7	+	20	6474	c.6103G>T	c.(6103-6105)Gag>Tag	p.E2035*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.E1652*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.E1818*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.E363*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2035					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGAAAAGGAGGAGGAACAGGA	0.557000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								54	100					2.47907e-22	2.59652e-22	1	1	0
KMT2C	58508	broad.mit.edu	37	7	151945114	151945114	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:151945114G>A	ENST00000355193.2	-	14	2623	c.2405C>T	c.(2404-2406)tCa>tTa	p.S802L	KMT2C_ENST00000262189.6_Missense_Mutation_p.S802L					lysine (K)-specific methyltransferase 2C																		ACTAAGAGCTGAAGGGTAATT	0.423000													40	830					0	0	1	0	0
GOLGA1	2800	broad.mit.edu	37	9	127691529	127691529	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:127691529C>T	ENST00000373555.4	-	5	600	c.267G>A	c.(265-267)gaG>gaA	p.E89E		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	89						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TTTCAAGCTTCTCTTTTATCT	0.368000													5	41					0	0	1	0	0
E2F4	1874	broad.mit.edu	37	16	67228652	67228652	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:67228652C>G	ENST00000379378.3	+	6	636	c.577C>G	c.(577-579)Ctg>Gtg	p.L193V	E2F4_ENST00000564718.1_3'UTR	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	193					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		CATTGAGGTTCTGCTGGTGAA	0.542000													63	58					0	0	1	0	0
RFX3	5991	broad.mit.edu	37	9	3257090	3257090	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:3257090C>T	ENST00000382004.3	-	15	2026	c.1715G>A	c.(1714-1716)tGg>tAg	p.W572*	RFX3_ENST00000358730.2_Nonsense_Mutation_p.W572*|RFX3_ENST00000302303.1_Nonsense_Mutation_p.W572*	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	572					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		ATTGTCAAGCCACGCAGCCCA	0.498000													64	71					0	0	1	0	0
TTC7B	145567	broad.mit.edu	37	14	91123528	91123528	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:91123528G>C	ENST00000357056.2	-	11	1452	c.1331C>G	c.(1330-1332)tCc>tGc	p.S444C	TTC7B_ENST00000328459.6_Missense_Mutation_p.S444C			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	444							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CCAGTGCAGGGAGCCCATGCA	0.622000													44	76					0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57088680	57088680	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:57088680C>G	ENST00000330619.8	+	6	1569	c.883C>G	c.(883-885)Cag>Gag	p.Q295E	ZNF470_ENST00000391709.3_Missense_Mutation_p.Q295E|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AGCCTTCAGCCAGAATGCTCA	0.448000													58	50					0	0	1	0	0
TRAV40	28641	broad.mit.edu	37	14	22783306	22783306	+	RNA	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:22783306C>T	ENST00000390467.3	+	0	272																											GTGAAATATTCAGTCCAGGTA	0.438000													29	57					0	0	1	0	0
CD48	962	broad.mit.edu	37	1	160681499	160681499	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:160681499G>A	ENST00000368045.3	-	1	94	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	CD48_ENST00000368046.3_Silent_p.L19L			P09326	CD48_HUMAN	CD48 molecule	19					blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AGGAGTGACAGAGGCAGCAGT	0.532000													34	57					0	0	1	0	0
LRRC8C	84230	broad.mit.edu	37	1	90179371	90179371	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:90179371G>A	ENST00000370454.4	+	3	1497	c.1242G>A	c.(1240-1242)ctG>ctA	p.L414L	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	414						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CTGATAAACTGAGGCAGAAGC	0.413000													41	53					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52100287	52100287	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:52100287C>T	ENST00000354534.6	+	11	1601	c.1423C>T	c.(1423-1425)Cgg>Tgg	p.R475W	SCN8A_ENST00000545061.1_Missense_Mutation_p.R475W|SCN8A_ENST00000550891.1_Missense_Mutation_p.R475W	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GGGCTCCCCTCGGAGCTCTTC	0.502000													12	10					0	0	1	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71360641	71360641	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:71360641G>C	ENST00000244230.2	+	2	1055	c.703G>C	c.(703-705)Gat>Cat	p.D235H	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.D235H	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	235					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						GGAAGATATTGATTTTTTTGA	0.343000													49	52					0	0	1	0	0
TIPRL	261726	broad.mit.edu	37	1	168165852	168165852	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:168165852G>C	ENST00000367833.2	+	5	729	c.584G>C	c.(583-585)aGa>aCa	p.R195T		NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TIP41, TOR signaling pathway regulator-like (S. cerevisiae)	195	Interaction with PPP2CA.				DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					GTGCTTATCAGAATGAATGAC	0.328000													65	90					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219900268	219900268	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:219900268C>G	ENST00000341552.5	-	5	559	c.476G>C	c.(475-477)gGa>gCa	p.G159A	CCDC108_ENST00000295729.2_Missense_Mutation_p.G94A|CCDC108_ENST00000453220.1_Missense_Mutation_p.G159A|CCDC108_ENST00000410037.1_Missense_Mutation_p.G94A|CCDC108_ENST00000324264.6_Missense_Mutation_p.G94A|CCDC108_ENST00000441968.1_Missense_Mutation_p.G159A|CCDC108_ENST00000409865.3_Missense_Mutation_p.G148A	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	159						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCTCCTTTCCTAGCTCCCA	0.502000													77	26					0	0	1	0	0
ANP32B	10541	broad.mit.edu	37	9	100756947	100756947	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:100756947A>T	ENST00000339399.4	+	2	284	c.89A>T	c.(88-90)aAt>aTt	p.N30I	ANP32B_ENST00000473205.1_3'UTR	NM_006401.2	NP_006392.1	Q92688	AN32B_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member B	30						cytoplasm|nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6		Acute lymphoblastic leukemia(62;0.0559)				TGCAAATCAAATGATGGAAAA	0.363000													32	52					0	0	1	0	0
MFSD8	256471	broad.mit.edu	37	4	128878746	128878746	+	Splice_Site	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:128878746C>G	ENST00000296468.3	-	3	191	c.64G>C	c.(64-66)Gaa>Caa	p.E22Q	MFSD8_ENST00000541133.1_5'UTR|MFSD8_ENST00000513559.1_5'UTR|MFSD8_ENST00000515130.1_Splice_Site	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	22					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						ATGTCCCATTCTCTAGGTGTA	0.308000													59	55					0	0	1	0	0
NEK7	140609	broad.mit.edu	37	1	198262135	198262135	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:198262135C>T	ENST00000367385.4	+	8	992	c.650C>T	c.(649-651)tCt>tTt	p.S217F	NEK7_ENST00000538004.1_Missense_Mutation_p.S217F	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	217	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						AACTTCAAATCTGACATCTGG	0.323000													133	170					0	0	1	0	0
CLK1	1195	broad.mit.edu	37	2	201718103	201718103	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:201718103C>T	ENST00000434813.2	-	13	1841	c.1507G>A	c.(1507-1509)Gat>Aat	p.D503N	CLK1_ENST00000409769.2_Missense_Mutation_p.D284N|CLK1_ENST00000321356.4_Missense_Mutation_p.D461N	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	461					cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TTGGCTGGATCATACTCCAAC	0.368000													35	11					0	0	1	0	0
FBXW2	26190	broad.mit.edu	37	9	123550366	123550366	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:123550366G>C	ENST00000608872.1	-	3	358	c.171C>G	c.(169-171)ctC>ctG	p.L57L	FBXW2_ENST00000340778.5_Silent_p.L57L	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2		F-box.				proteolysis		protein binding|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						GAAGGAGTTTGAGGAAGTCCC	0.463000													45	64					0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106461446	106461446	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:106461446C>G	ENST00000261402.2	-	7	2499	c.1120G>C	c.(1120-1122)Gag>Cag	p.E374Q		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	374							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						AAGTCATTCTCTTTCTTGGAT	0.542000													42	58					0	0	1	0	0
PVR	5817	broad.mit.edu	37	19	45164564	45164564	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:45164564G>C	ENST00000425690.3	+	7	1455	c.1156G>C	c.(1156-1158)Gag>Cag	p.E386Q	CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000403059.4_Missense_Mutation_p.E341Q|PVR_ENST00000344956.4_Missense_Mutation_p.E333Q	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	386					adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CCCAGGTACAGAGCATGCCAG	0.547000													41	33					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50955190	50955190	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:50955190C>T	ENST00000374103.4	-	9	1137	c.1052G>A	c.(1051-1053)cGg>cAg	p.R351Q	OGDHL_ENST00000432695.1_Missense_Mutation_p.R142Q|OGDHL_ENST00000419399.1_Missense_Mutation_p.R294Q	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	351					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AGTGATGTTCCGGTTGGTGAC	0.587000													61	82					0	0	1	0	0
HMOX2	3163	broad.mit.edu	37	16	4556895	4556895	+	Splice_Site	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:4556895G>A	ENST00000570646.1	+	3	691		c.e3-1		HMOX2_ENST00000575120.1_Splice_Site|HMOX2_ENST00000406590.2_Splice_Site|HMOX2_ENST00000458134.3_Splice_Site|HMOX2_ENST00000398595.3_Splice_Site|HMOX2_ENST00000414777.1_Splice_Site|HMOX2_ENST00000219700.6_Splice_Site	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2						cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	TCTCTCCACAGAATGGCTGAC	0.517000											OREG0023582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	112	30					0	0	1	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32977305	32977305	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:32977305G>C	ENST00000229829.5	-	1	84	c.9C>G	c.(7-9)ctC>ctG	p.L3L	HLA-DOA_ENST00000450833.2_5'UTR	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	3					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GCCCTGCTCTGAGGGCCATTA	0.587000													5	12					0	0	1	0	0
PPIL1	51645	broad.mit.edu	37	6	36823787	36823787	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:36823787G>A	ENST00000373699.5	-	4	554	c.303C>T	c.(301-303)gcC>gcT	p.A101A	PPIL1_ENST00000483552.1_5'UTR	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 1	101	Cyclosporin A binding.|PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			lung(1)|ovary(1)	2						GCCCCGCATTGGCCATTGCGA	0.552000													23	23					0	0	1	0	0
SMC5	23137	broad.mit.edu	37	9	72962016	72962016	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:72962016T>C	ENST00000361138.5	+	20	2661	c.2603T>C	c.(2602-2604)aTt>aCt	p.I868T	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	868					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TTGGATGAAATTGATGCTTTA	0.368000													31	34					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135003134	135003134	+	Missense_Mutation	SNP	G	G	C	rs143362573		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:135003134G>C	ENST00000304613.3	+	8	1495	c.1474G>C	c.(1474-1476)Gag>Cag	p.E492Q	KNDC1_ENST00000368572.2_Missense_Mutation_p.E492Q|KNDC1_ENST00000368571.2_Missense_Mutation_p.E427Q			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	492	KIND 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GCTGGTTGCTGAGGACGGGGC	0.672000													31	25					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169502984	169502984	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:169502984G>A	ENST00000256935.8	+	47	4842	c.4762G>A	c.(4762-4764)Gag>Aag	p.E1588K	DOCK2_ENST00000520908.1_Missense_Mutation_p.E1080K|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.E649K	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1588	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAAGATCCATGAGAAAAGGGT	0.532000													40	118					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30672146	30672146	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:30672146G>C	ENST00000376406.3	-	10	5461	c.4814C>G	c.(4813-4815)tCt>tGt	p.S1605C	MDC1_ENST00000376405.2_Missense_Mutation_p.S1341C|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1605	Interaction with the PRKDC complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GGTCTTGACAGAGGACCTATT	0.602000								Other conserved DNA damage response genes					91	86					0	0	1	0	0
RALYL	138046	broad.mit.edu	37	8	85785626	85785626	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:85785626G>C	ENST00000521268.1	+	7	1784	c.679G>C	c.(679-681)Gag>Cag	p.E227Q	RALYL_ENST00000523850.1_Missense_Mutation_p.E154Q|RALYL_ENST00000518566.1_Missense_Mutation_p.E216Q|RALYL_ENST00000521376.1_Missense_Mutation_p.E138Q|RALYL_ENST00000521695.1_Missense_Mutation_p.E227Q|RALYL_ENST00000522455.1_Missense_Mutation_p.E227Q|RALYL_ENST00000517638.1_Missense_Mutation_p.E240Q	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	227							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GCAGAAGGCGGAGGCAGGTAA	0.463000													4	4					0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148596271	148596271	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:148596271G>C	ENST00000296046.3	+	4	365	c.313G>C	c.(313-315)Gat>Cat	p.D105H	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	105					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GAAACAGTTTGATGTTAAAGA	0.338000													86	66					0	0	1	0	0
SLK	9748	broad.mit.edu	37	10	105768064	105768064	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:105768064G>C	ENST00000369755.3	+	12	3279	c.2734G>C	c.(2734-2736)Gag>Cag	p.E912Q	SLK_ENST00000474260.1_3'UTR|SLK_ENST00000335753.4_Missense_Mutation_p.E912Q	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	912					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	p.E912*(1)		kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGGAGAACAAGAGAAAGAGTT	0.363000													29	85					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202695	140202695	+	Silent	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:140202695C>A	ENST00000529859.1	+	1	1335	c.1335C>A	c.(1333-1335)gcC>gcA	p.A445A	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.A445A|PCDHA5_ENST00000378126.3_Silent_p.A445A|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAAGTGGCCGACGTGAACG	0.657000													89	71					4.21487e-37	4.47514e-37	1	1	0
DOCK8	81704	broad.mit.edu	37	9	446486	446486	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:446486C>G	ENST00000432829.2	+	44	5809	c.5493C>G	c.(5491-5493)ttC>ttG	p.F1831L	DOCK8_ENST00000453981.1_Missense_Mutation_p.F1899L|DOCK8_ENST00000469391.1_Missense_Mutation_p.F1799L|DOCK8_ENST00000382329.1_Missense_Mutation_p.F1366L	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1899					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCACCCCGTTCACCCTGGAGG	0.522000													67	99					0	0	1	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49965030	49965030	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:49965030G>A	ENST00000293350.4	+	6	895	c.732G>A	c.(730-732)cgG>cgA	p.R244R	ALDH16A1_ENST00000455361.2_Silent_p.R244R|ALDH16A1_ENST00000540132.1_Silent_p.R81R|ALDH16A1_ENST00000433981.2_Silent_p.R79R	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	244							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CTGGAATCCGGAAGGTGGCCT	0.711000													6	17					0	0	1	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457778	45457778	+	RNA	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:45457778G>A	ENST00000548424.1	+	0	448																											GTACATGGCAGATATGCTGTT	0.453000													61	80					0	0	1	0	0
PRPF40B	25766	broad.mit.edu	37	12	50029643	50029643	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:50029643C>T	ENST00000261897.1	+	14	1760	c.1209C>T	c.(1207-1209)ctC>ctT	p.L403L	PRPF40B_ENST00000380281.1_Silent_p.L409L|PRPF40B_ENST00000548825.2_Silent_p.L431L			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	409					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCAAGCAGCTCCGGCGCCGCA	0.602000													43	44					0	0	1	0	0
METTL12	751071	broad.mit.edu	37	11	62434355	62434355	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:62434355G>T	ENST00000532971.1	+	3	812	c.555G>T	c.(553-555)ttG>ttT	p.L185F	C11orf48_ENST00000354588.3_Intron|C11orf48_ENST00000532208.1_Intron|METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000431002.2_Intron	NM_001043229.1	NP_001036694.1	A8MUP2	MTL12_HUMAN	methyltransferase like 12	185						mitochondrion	methyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						CAGAATGCTTGAGGGTTCTAA	0.547000													21	28					5.26018e-13	5.39975e-13	1	1	0
CD47	961	broad.mit.edu	37	3	107798974	107798974	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:107798974G>A	ENST00000355354.7	-	2	380	c.264C>T	c.(262-264)gtC>gtT	p.V88V	CD47_ENST00000361309.5_Silent_p.V88V	NM_198793.2	NP_942088.1	Q08722	CD47_HUMAN	CD47 molecule	88	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to plasma membrane	protein binding|thrombospondin receptor activity			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			GTAATTGTGAGACTTCAATTT	0.383000													62	104					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169204637	169204637	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:169204637G>C	ENST00000393743.3	-	13	1973	c.1682C>G	c.(1681-1683)tCa>tGa	p.S561*		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	561							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATCCTTCTTTGACTTAATAGT	0.333000													28	25					0	0	1	0	0
COLGALT2	23127	broad.mit.edu	37	1	183920230	183920230	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:183920230G>C	ENST00000361927.4	-	8	1418	c.1047C>G	c.(1045-1047)ctC>ctG	p.L349L	COLGALT2_ENST00000546159.1_Silent_p.L349L|COLGALT2_ENST00000367520.3_Silent_p.L86L	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		TTCTGCGTTTGAGGTTTATCA	0.413000													127	202					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52613209	52613209	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:52613209C>T	ENST00000356770.4	-	20	3300	c.3298G>A	c.(3298-3300)Gaa>Aaa	p.E1100K	SMIM4_ENST00000476842.1_3'UTR|PBRM1_ENST00000409114.3_Missense_Mutation_p.E1147K|PBRM1_ENST00000394830.3_Missense_Mutation_p.E1107K|PBRM1_ENST00000409057.1_Missense_Mutation_p.E1132K|PBRM1_ENST00000296302.7_Missense_Mutation_p.E1132K|PBRM1_ENST00000337303.4_Missense_Mutation_p.E1132K|PBRM1_ENST00000409767.1_Missense_Mutation_p.E1147K|PBRM1_ENST00000410007.1_Missense_Mutation_p.E1107K			Q86U86	PB1_HUMAN	polybromo 1	1132					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GGGACATCTTCTTTTTCCTGT	0.408000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								56	75					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21822642	21822642	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:21822642C>G	ENST00000216297.2	-	23	3056	c.2718G>C	c.(2716-2718)atG>atC	p.M906I		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	906					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CAATGGTCTTCATGATTTTAG	0.463000													46	58					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90425454	90425454	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:90425454C>G	ENST00000369393.3	-	45	6893	c.6778G>C	c.(6778-6780)Gaa>Caa	p.E2260Q	MDN1_ENST00000428876.1_Missense_Mutation_p.E2260Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2260					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCTCCGGGTTCAAGCAAAGCA	0.448000													28	107					0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150532597	150532597	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:150532597C>T	ENST00000271643.4	+	19	3386	c.3150C>T	c.(3148-3150)gtC>gtT	p.V1050V	ADAMTSL4_ENST00000369039.5_Silent_p.V1073V|ADAMTSL4_ENST00000369038.2_Silent_p.V1050V	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	1050	PLAC.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGCTCTGCGTCTACCCCTACT	0.622000											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	89	131					0	0	1	0	0
ZNF195	7748	broad.mit.edu	37	11	3380510	3380510	+	Silent	SNP	T	T	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:3380510T>C	ENST00000354599.6	-	4	1616	c.1512A>G	c.(1510-1512)aaA>aaG	p.K504K	ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000399602.4_Silent_p.K576K|ZNF195_ENST00000429541.2_Silent_p.K508K|ZNF195_ENST00000343338.7_Silent_p.K508K|ZNF195_ENST00000005082.9_Silent_p.K553K|ZNF195_ENST00000526601.1_Silent_p.K557K	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATTTGTAGGGTTTCTCTCCAG	0.393000													3	92					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156639156	156639156	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:156639156C>G	ENST00000368223.3	-	4	4956	c.4824G>C	c.(4822-4824)caG>caC	p.Q1608H		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1608	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCCTTCCCTCTGAGTGAACT	0.617000													33	59					0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224664	248224664	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:248224664G>A	ENST00000359959.3	+	1	681	c.681G>A	c.(679-681)atG>atA	p.M227I	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCTACCACATGAAATCTGCAG	0.468000													92	158					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12122781	12122781	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:12122781C>G	ENST00000379388.2	+	4	3085	c.2753C>G	c.(2752-2754)tCc>tGc	p.S918C		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	918					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ACTGGACAGTCCCTGGATGAG	0.517000													10	33					0	0	1	0	0
TRIM45	80263	broad.mit.edu	37	1	117656050	117656050	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:117656050G>A	ENST00000256649.4	-	5	2051	c.1525C>T	c.(1525-1527)Cac>Tac	p.H509Y	TRIM45_ENST00000369461.3_Missense_Mutation_p.H452Y|TRIM45_ENST00000369464.3_Missense_Mutation_p.H491Y	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	509						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		GTGCAGCAGTGAAACACGCCT	0.572000													48	39					0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150699303	150699303	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:150699303G>A	ENST00000297494.3	+	14	2020	c.1663G>A	c.(1663-1665)Gag>Aag	p.E555K	NOS3_ENST00000467517.1_Missense_Mutation_p.E555K|NOS3_ENST00000484524.1_Missense_Mutation_p.E555K|NOS3_ENST00000461406.1_Missense_Mutation_p.E349K	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	555	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GTGTATGGATGAGTATGACGT	0.602000													6	12					0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73790516	73790516	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:73790516G>A	ENST00000223398.6	+	10	2112	c.1785G>A	c.(1783-1785)ctG>ctA	p.L595L	CLIP2_ENST00000361545.5_Silent_p.L560L|CLIP2_ENST00000395060.1_Silent_p.L595L	NM_003388.4	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	595						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TGGCGGGCCTGAAGGACAAGG	0.612000													26	26					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80422972	80422972	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:80422972G>C	ENST00000265080.4	+	17	2743	c.2676G>C	c.(2674-2676)ggG>ggC	p.G892G		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	892					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CAGGACATGGGAGTCCACCAG	0.512000													17	53					0	0	1	0	0
PHLPP1	23239	broad.mit.edu	37	18	60645778	60645778	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr18:60645778G>T	ENST00000400316.4	+	17	4513	c.2732G>T	c.(2731-2733)aGt>aTt	p.S911I	PHLPP1_ENST00000262719.5_Missense_Mutation_p.S1423I	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1423					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						GTGCAGCTCAGTGTCACTGAG	0.632000													10	13					9.05144e-12	9.27623e-12	1	1	0
ERCC6	2074	broad.mit.edu	37	10	50682233	50682233	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:50682233G>A	ENST00000355832.5	-	13	2516	c.2438C>T	c.(2437-2439)tCt>tTt	p.S813F	ERCC6_ENST00000542458.1_Missense_Mutation_p.S183F	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	813					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GGGACCTCCAGAAAAGAGATC	0.413000								Direct reversal of damage;Nucleotide excision repair (NER)					54	62					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86807733	86807733	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:86807733C>G	ENST00000441037.2	+	10	1288	c.1193C>G	c.(1192-1194)tCc>tGc	p.S398C	AGBL1_ENST00000389298.3_Missense_Mutation_p.S129C|AGBL1_ENST00000421325.2_Missense_Mutation_p.S398C	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	398					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AATGTGCAATCCAATAGTCTC	0.488000													17	42					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34091303	34091303	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr20:34091303G>C	ENST00000397527.1	+	30	5826	c.5106G>C	c.(5104-5106)caG>caC	p.Q1702H	CEP250_ENST00000342580.4_Missense_Mutation_p.Q1646H	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1702	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TGACCACTCAGAGGCAGCTGA	0.587000													66	93					0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99467847	99467847	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:99467847C>T	ENST00000268035.6	+	13	3327	c.2716C>T	c.(2716-2718)Cag>Tag	p.Q906*	IGF1R_ENST00000558762.1_Nonsense_Mutation_p.Q906*	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	906	Fibronectin type-III 3.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	AGCCCGGATTCAGGCCACATC	0.527000													36	81					0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50682166	50682166	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr22:50682166G>C	ENST00000439308.2	-	1	1215	c.723C>G	c.(721-723)ctC>ctG	p.L241L	TUBGCP6_ENST00000248846.5_Silent_p.L241L	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	241					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CCAGCCCAGAGAGGTCCGCAT	0.537000													36	47					0	0	1	0	0
FA2H	79152	broad.mit.edu	37	16	74761154	74761154	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:74761154G>C	ENST00000219368.3	-	3	563	c.494C>G	c.(493-495)tCt>tGt	p.S165C	FA2H_ENST00000544337.1_Intron	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	165					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						GACAGTCTTAGAGAGGCCCTC	0.587000													25	38					0	0	1	0	0
PPM1J	333926	broad.mit.edu	37	1	113253221	113253221	+	Nonstop_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:113253221C>G	ENST00000606505.1	-	4	274	c.275G>C	c.(274-276)tGa>tCa	p.*92S	PPM1J_ENST00000359994.4_Missense_Mutation_p.D205H|RP11-426L16.10_ENST00000471038.2_5'UTR|PPM1J_ENST00000309276.6_Missense_Mutation_p.D411H|PPM1J_ENST00000464951.1_Missense_Mutation_p.D205H																							TGTGTCAGGTCATACACTCGT	0.532000													90	125					0	0	1	0	0
SEMA4F	10505	broad.mit.edu	37	2	74907021	74907021	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:74907021C>T	ENST00000357877.2	+	14	2147	c.1998C>T	c.(1996-1998)ttC>ttT	p.F666F	SEMA4F_ENST00000339773.5_Silent_p.F511F|SEMA4F_ENST00000473350.1_3'UTR	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	666					cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TGGCTGGCTTCTTCTTGGGGA	0.627000													33	45					0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46764544	46764544	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:46764544G>C	ENST00000394809.4	-	5	1644	c.1529C>G	c.(1528-1530)tCt>tGt	p.S510C	MYLK3_ENST00000536476.1_Missense_Mutation_p.S169C	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	510					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GTAACCCGCAGAGATGGAGGT	0.612000													72	126					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52643597	52643597	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:52643597C>G	ENST00000356770.4	-	15	2205	c.2203G>C	c.(2203-2205)Gag>Cag	p.E735Q	PBRM1_ENST00000409114.3_Missense_Mutation_p.E782Q|PBRM1_ENST00000394830.3_Missense_Mutation_p.E767Q|PBRM1_ENST00000409057.1_Missense_Mutation_p.E767Q|PBRM1_ENST00000296302.7_Missense_Mutation_p.E767Q|PBRM1_ENST00000337303.4_Missense_Mutation_p.E767Q|PBRM1_ENST00000409767.1_Missense_Mutation_p.E782Q|PBRM1_ENST00000410007.1_Missense_Mutation_p.E767Q			Q86U86	PB1_HUMAN	polybromo 1	767	Bromo 5.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.D766fs*22(2)|p.D734fs*22(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TGAGAGTCCTCATCTCCCTCC	0.438000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								43	25					0	0	1	0	0
MYO1C	4641	broad.mit.edu	37	17	1378124	1378124	+	Silent	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:1378124G>T	ENST00000359786.5	-	16	2022	c.1698C>A	c.(1696-1698)ctC>ctA	p.L566L	MYO1C_ENST00000361007.2_Silent_p.L531L|MYO1C_ENST00000545534.2_Silent_p.L542L|MYO1C_ENST00000575158.1_Silent_p.L531L|MYO1C_ENST00000438665.2_Silent_p.L547L	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	566	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGTTCCGGAAGAGAAGGTCAT	0.637000													42	7					2.17126e-26	2.28962e-26	1	1	0
ACMSD	130013	broad.mit.edu	37	2	135655919	135655919	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:135655919C>T	ENST00000356140.5	+	9	994	c.858C>T	c.(856-858)gtC>gtT	p.V286V	AC016725.4_ENST00000537615.1_RNA|AC016725.4_ENST00000428857.1_RNA|ACMSD_ENST00000283054.4_Silent_p.V228V|ACMSD_ENST00000392928.1_Silent_p.V228V|AC016725.4_ENST00000413962.1_RNA|AC016725.4_ENST00000392929.2_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	286					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		AGGATAAAGTCATTTTGGGAA	0.343000													277	37					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248309371	248309371	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:248309371G>T	ENST00000366476.1	+	1	922	c.922G>T	c.(922-924)Ggc>Tgc	p.G308C		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GTTAGGAAAGGGCAAGTGTGG	0.433000													27	43					2.44723e-14	2.51634e-14	1	1	0
KDM6A	7403	broad.mit.edu	37	X	44941858	44941858	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chrX:44941858C>G	ENST00000377967.4	+	21	3223	c.3182C>G	c.(3181-3183)tCa>tGa	p.S1061*	KDM6A_ENST00000382899.4_Nonsense_Mutation_p.S1068*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.S1016*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.S982*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1061					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AAAGACCACTCAGATAGTGAA	0.313000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								39	4					0	0	1	0	0
IKBKE	9641	broad.mit.edu	37	1	206649607	206649607	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:206649607G>T	ENST00000367120.3	+	6	815	c.442G>T	c.(442-444)Gag>Tag	p.E148*	IKBKE_ENST00000537984.1_Nonsense_Mutation_p.E63*	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	148	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CGTAGGGGAGGAGGGGCAGAG	0.607000													59	81					5.5144e-22	5.75618e-22	1	1	0
KMT2C	58508	broad.mit.edu	37	7	151878836	151878836	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:151878836C>G	ENST00000355193.2	-	36	6327	c.6109G>C	c.(6109-6111)Gat>Cat	p.D2037H	KMT2C_ENST00000262189.6_Missense_Mutation_p.D2037H					lysine (K)-specific methyltransferase 2C																		GGACCACTATCAAGAGGTGCA	0.468000													53	74					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103323975	103323975	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:103323975G>A	ENST00000520539.1	-	19	3012	c.2406C>T	c.(2404-2406)ttC>ttT	p.F802F	UBR5_ENST00000220959.4_Silent_p.F802F|UBR5_ENST00000521922.1_Silent_p.F796F	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	802					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GTCCAGCAGTGAAAATGGCTA	0.413000													105	90					0	0	1	0	0
EIF3M	10480	broad.mit.edu	37	11	32610646	32610646	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:32610646G>A	ENST00000531120.1	+	4	466	c.403G>A	c.(403-405)Ggg>Agg	p.G135R	EIF3M_ENST00000524896.1_Intron	NM_006360.4	NP_006351.2	Q7L2H7	EIF3M_HUMAN	eukaryotic translation initiation factor 3, subunit M	135						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					AGCATCTTGTGGGGCCATCCA	0.408000													33	80					0	0	1	0	0
RNF168	165918	broad.mit.edu	37	3	196199142	196199142	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:196199142C>T	ENST00000318037.3	-	6	1858	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	422					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	p.E422*(1)		NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		AAGTTTATTTCTGTTTCCTCT	0.378000													85	102					0	0	1	0	0
RUFY3	22902	broad.mit.edu	37	4	71588434	71588434	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:71588434C>G	ENST00000226328.4	+	1	707	c.144C>G	c.(142-144)atC>atG	p.I48M	RUFY3_ENST00000381006.3_Missense_Mutation_p.I48M|RUFY3_ENST00000536664.1_Missense_Mutation_p.I14M|RUFY3_ENST00000417478.2_Intron	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	48					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			TGGATGACATCTCACTTACAC	0.527000													67	59					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36485624	36485624	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:36485624C>T	ENST00000342292.4	-	11	3848	c.3828G>A	c.(3826-3828)tcG>tcA	p.S1276S		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1276						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTAGTGCCCTCGACTCTGGGG	0.562000													80	2					0	0	1	0	0
TXNIP	10628	broad.mit.edu	37	1	145439874	145439874	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:145439874G>C	ENST00000369317.4	+	3	754	c.420G>C	c.(418-420)aaG>aaC	p.K140N	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	140					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGAGACAAAGAAAAACTTTG	0.438000													62	68					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61654025	61654025	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:61654025G>A	ENST00000423902.2	+	2	513	c.34G>A	c.(34-36)Gag>Aag	p.E12K	CHD7_ENST00000524602.1_Missense_Mutation_p.E12K|CHD7_ENST00000525508.1_Missense_Mutation_p.E12K	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	12					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)			TCTTTTTGGCGAGGATGGGAA	0.488000													13	9					0	0	1	0	0
AP2M1	1173	broad.mit.edu	37	3	183898646	183898646	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:183898646G>A	ENST00000382456.3	+	5	747	c.433G>A	c.(433-435)Gag>Aag	p.E145K	AP2M1_ENST00000439647.1_Missense_Mutation_p.E145K|AP2M1_ENST00000461733.1_3'UTR|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000292807.5_Missense_Mutation_p.E147K|AP2M1_ENST00000411763.2_Missense_Mutation_p.E172K	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	147					axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GACAAAAGAAGAGCAGTCACA	0.522000													238	250					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52382979	52382979	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:52382979G>C	ENST00000420323.2	+	13	2443	c.2182G>C	c.(2182-2184)Gag>Cag	p.E728Q		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	728	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACTGGTGGAAGAGCTACGGGC	0.592000													96	123					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30554571	30554571	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr18:30554571C>T	ENST00000383096.3	-	22	2645	c.2463G>A	c.(2461-2463)atG>atA	p.M821I	CCDC178_ENST00000300227.8_Missense_Mutation_p.M783I|CCDC178_ENST00000579916.1_Missense_Mutation_p.M141I|CCDC178_ENST00000402325.1_Missense_Mutation_p.M771I|CCDC178_ENST00000581852.1_Missense_Mutation_p.M26I|CCDC178_ENST00000403303.1_Missense_Mutation_p.M821I|CCDC178_ENST00000583930.1_Missense_Mutation_p.M845I|CCDC178_ENST00000579947.1_Missense_Mutation_p.M821I|CCDC178_ENST00000406524.2_Missense_Mutation_p.M845I					coiled-coil domain containing 178																		TGGCCAGCCTCATCTGGCTGA	0.493000													51	45					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123798237	123798237	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:123798237C>G	ENST00000420886.2	-	23	3149	c.3150G>C	c.(3148-3150)atG>atC	p.M1050I	SBNO1_ENST00000602398.1_Missense_Mutation_p.M1050I|SBNO1_ENST00000267176.4_Missense_Mutation_p.M1049I|SBNO1_ENST00000602750.1_Missense_Mutation_p.M1049I	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1050							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CAATGGATTTCATGACAATTT	0.333000													17	19					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17771434	17771434	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:17771434G>C	ENST00000259711.6	-	38	4597	c.4492C>G	c.(4492-4494)Cag>Gag	p.Q1498E	KIF13A_ENST00000378826.2_Intron|KIF13A_ENST00000378843.2_Intron|KIF13A_ENST00000378814.5_Intron|KIF13A_ENST00000378816.5_Intron	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1498					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTATGTGCCTGAGGTGGAGGC	0.458000													8	17					0	0	1	0	0
OLFML3	56944	broad.mit.edu	37	1	114523069	114523069	+	Missense_Mutation	SNP	G	G	C	rs144544470	by1000genomes	TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:114523069G>C	ENST00000369551.1	+	3	458	c.170G>C	c.(169-171)aGa>aCa	p.R57T	OLFML3_ENST00000320334.4_Missense_Mutation_p.R77T|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Missense_Mutation_p.R57T			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	77					multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGCACTCAGAACTGAGGCC	0.587000													40	71					0	0	1	0	0
TMEM159	57146	broad.mit.edu	37	16	21172532	21172532	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:21172532C>G	ENST00000233047.4	+	2	497	c.29C>G	c.(28-30)tCa>tGa	p.S10*	TMEM159_ENST00000572258.1_Nonsense_Mutation_p.S10*|TMEM159_ENST00000451578.2_Nonsense_Mutation_p.S10*|TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000572599.1_Nonsense_Mutation_p.S10*|TMEM159_ENST00000261388.3_Nonsense_Mutation_p.S10*			Q96B96	TM159_HUMAN	transmembrane protein 159	10						integral to membrane				large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		CAGAGTATCTCAAGGGACTTG	0.448000													29	9					0	0	1	0	0
ASNSD1	54529	broad.mit.edu	37	2	190532598	190532598	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:190532598G>C	ENST00000260952.4	+	5	1986	c.1573G>C	c.(1573-1575)Gaa>Caa	p.E525Q	ASNSD1_ENST00000607062.1_Missense_Mutation_p.E44Q	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	525	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			AATAATGATGGAACTGGGTCG	0.413000													65	12					0	0	1	0	0
CLSPN	63967	broad.mit.edu	37	1	36211080	36211080	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:36211080G>C	ENST00000251195.5	-	16	3034	c.2938C>G	c.(2938-2940)Ctt>Gtt	p.L980V	CLSPN_ENST00000373220.3_Missense_Mutation_p.L916V|CLSPN_ENST00000318121.3_Missense_Mutation_p.L980V|CLSPN_ENST00000520551.1_Missense_Mutation_p.L927V			Q9HAW4	CLSPN_HUMAN	claspin	980					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCTGAGCAAAGAGCAAGTGCT	0.438000													30	42					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39226133	39226133	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:39226133C>G	ENST00000340369.3	-	2	5032	c.4804G>C	c.(4804-4806)Gag>Cag	p.E1602Q	XIRP1_ENST00000421646.1_Missense_Mutation_p.E285Q|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1602							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCTCCGACCTCCTGGCCTGAG	0.562000													190	177					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													4	51					0	0	1	0	0
EIF4B	1975	broad.mit.edu	37	12	53412671	53412671	+	Silent	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:53412671C>A	ENST00000262056.9	+	3	567	c.241C>A	c.(241-243)Cgg>Agg	p.R81R	EIF4B_ENST00000551527.1_3'UTR|RP11-983P16.4_ENST00000552905.1_RNA|RP11-983P16.4_ENST00000549388.1_RNA|EIF4B_ENST00000416762.3_Silent_p.R81R|EIF4B_ENST00000420463.3_Silent_p.R81R	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	81					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						ACGGGCTGCTCGGGAACCCAA	0.512000													52	113					6.09941e-20	6.33478e-20	1	1	0
MYO10	4651	broad.mit.edu	37	5	16668556	16668556	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:16668556G>A	ENST00000513610.1	-	40	6359	c.5905C>T	c.(5905-5907)Cag>Tag	p.Q1969*	MYO10_ENST00000274203.9_Nonsense_Mutation_p.Q1326*|MYO10_ENST00000515803.1_Nonsense_Mutation_p.Q1308*|MYO10_ENST00000505695.1_Nonsense_Mutation_p.Q1308*|MYO10_ENST00000427430.2_Nonsense_Mutation_p.Q1326*	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1969	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CAGAGTTCCTGAGGGAAGCCA	0.512000													15	9					0	0	1	0	0
SLC43A1	8501	broad.mit.edu	37	11	57256845	57256845	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:57256845G>C	ENST00000278426.3	-	12	1569	c.1214C>G	c.(1213-1215)tCc>tGc	p.S405C	SLC43A1_ENST00000528450.1_Missense_Mutation_p.S405C	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	405					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						TGGTCTGATGGATTTGGTAGC	0.577000													44	130					0	0	1	0	0
TXNRD1	7296	broad.mit.edu	37	12	104609593	104609593	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:104609593G>A	ENST00000525566.1	+	1	37	c.13G>A	c.(13-15)Gag>Aag	p.E5K	TXNRD1_ENST00000429002.2_Missense_Mutation_p.E5K	NM_001093771.2	NP_001087240.1	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	5					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						GGGCTGCGCCGAGGGCAAGGC	0.721000											OREG0022069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	2					0	0	1	0	0
AGO1	26523	broad.mit.edu	37	1	36381126	36381126	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:36381126G>A	ENST00000373204.4	+	15	2224	c.2011G>A	c.(2011-2013)Gaa>Aaa	p.E671K	AGO1_ENST00000373206.1_Missense_Mutation_p.E596K	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		TGGGGTGCCTGAAGGCCAGCT	0.517000													22	25					0	0	1	0	0
KDM3A	55818	broad.mit.edu	37	2	86707394	86707394	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:86707394C>T	ENST00000409556.1	+	17	2786	c.2421C>T	c.(2419-2421)gcC>gcT	p.A807A	KDM3A_ENST00000542128.1_Silent_p.A755A|KDM3A_ENST00000312912.5_Silent_p.A807A|KDM3A_ENST00000409064.1_Silent_p.A807A			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	807					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CCAAGCCAGCCGGCAGCATGA	0.567000													25	22					0	0	1	0	0
SUZ12	23512	broad.mit.edu	37	17	30323823	30323823	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:30323823G>C	ENST00000322652.5	+	15	2030	c.1801G>C	c.(1801-1803)Gaa>Caa	p.E601Q	SUZ12_ENST00000580398.1_Missense_Mutation_p.E578Q	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	601	VEFS-box.				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				CCAGCAAATTGAAGAGTTTTC	0.299000			T	JAZF1	endometrial stromal tumours								7	62					0	0	1	0	0
TXNIP	10628	broad.mit.edu	37	1	145440123	145440123	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:145440123G>A	ENST00000369317.4	+	4	891	c.557G>A	c.(556-558)aGa>aAa	p.R186K	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	186					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGAATTGACAGAAAAGGATTC	0.458000													101	142					0	0	1	0	0
MANEAL	149175	broad.mit.edu	37	1	38265658	38265658	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:38265658C>T	ENST00000373045.6	+	4	1538	c.1157C>T	c.(1156-1158)aCg>aTg	p.T386M	MANEAL_ENST00000397631.3_3'UTR|MANEAL_ENST00000525897.1_Missense_Mutation_p.T192M|RP11-109P14.9_ENST00000433474.1_RNA|MANEAL_ENST00000329006.5_Missense_Mutation_p.T164M	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	386						Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TACTATGAGACGGCCCTGCAG	0.567000													47	60					0	0	1	0	0
BAZ1A	11177	broad.mit.edu	37	14	35227966	35227966	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:35227966C>G	ENST00000360310.1	-	25	4897	c.4330G>C	c.(4330-4332)Gaa>Caa	p.E1444Q	BAZ1A_ENST00000358716.4_Missense_Mutation_p.E1412Q|BAZ1A_ENST00000382422.2_Missense_Mutation_p.E1444Q	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1444					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CGTACCAATTCTACAACAAGT	0.393000													41	74					0	0	1	0	0
NDUFA7	4701	broad.mit.edu	37	19	8386222	8386222	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:8386222G>A	ENST00000301457.2	-	1	58	c.21C>T	c.(19-21)ctC>ctT	p.L7L	NDUFA7_ENST00000598884.1_Silent_p.L7L	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	7					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5					NADH(DB00157)	GCCGCTGGATGAGACGGGTGG	0.716000													4	4					0	0	1	0	0
RFX5	5993	broad.mit.edu	37	1	151316209	151316209	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:151316209G>A	ENST00000290524.4	-	9	883	c.705C>T	c.(703-705)ctC>ctT	p.L235L	RFX5_ENST00000368870.2_Silent_p.L235L|RFX5_ENST00000452671.2_Silent_p.L235L|RFX5_ENST00000452513.2_Silent_p.L195L	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	235						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGGCAGAGATGAGATGCTGCT	0.582000													40	66					0	0	1	0	0
PCM1	5108	broad.mit.edu	37	8	17813081	17813081	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:17813081C>G	ENST00000325083.8	+	10	1830	c.1391C>G	c.(1390-1392)tCt>tGt	p.S464C	PCM1_ENST00000519253.1_Missense_Mutation_p.S464C|PCM1_ENST00000518537.1_Missense_Mutation_p.S503C|PCM1_ENST00000524226.1_Missense_Mutation_p.S464C	NM_006197.3	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	464					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		CTCACATCATCTGTTCCTTAT	0.433000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								23	33					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20807417	20807417	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:20807417C>G	ENST00000601440.1	-	4	1412	c.1266G>C	c.(1264-1266)gaG>gaC	p.E422D	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TGTAGGGTCTCTCTCCAGTAT	0.378000													46	35					0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134183857	134183857	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:134183857C>T	ENST00000431683.2	+	17	1602	c.1602C>T	c.(1600-1602)atC>atT	p.I534I		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	534					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CTGTCAGCATCAATAACTCTT	0.483000													27	6					0	0	1	0	0
CDKN1B	1027	broad.mit.edu	37	12	12871765	12871765	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:12871765C>G	ENST00000228872.4	+	2	1198	c.482C>G	c.(481-483)tCt>tGt	p.S161C	CDKN1B_ENST00000477087.1_3'UTR|CDKN1B_ENST00000396340.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	161					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		TTAGATTCTTCTACTCAAAAC	0.438000													77	95					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89943435	89943435	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:89943435G>A	ENST00000405460.2	+	17	3239	c.3143G>A	c.(3142-3144)aGa>aAa	p.R1048K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1048					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCTACTGCAAGAGAGAGAGAT	0.423000													36	92					0	0	1	0	0
FBXL8	55336	broad.mit.edu	37	16	67196840	67196840	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:67196840C>T	ENST00000258200.3	+	3	419	c.242C>T	c.(241-243)tCg>tTg	p.S81L	FBXL8_ENST00000521920.1_3'UTR|FBXL8_ENST00000519917.1_Missense_Mutation_p.S81L			Q96CD0	FBXL8_HUMAN	F-box and leucine-rich repeat protein 8	81							protein binding			endometrium(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)		TTTGAGCCATCGAGGAAGCCG	0.632000													3	2					0	0	1	0	0
KIAA1045	23349	broad.mit.edu	37	9	34976667	34976667	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:34976667G>A	ENST00000242315.3	+	5	861	c.779G>A	c.(778-780)cGa>cAa	p.R260Q	KIAA1045_ENST00000544237.1_Missense_Mutation_p.R260Q|KIAA1045_ENST00000476115.2_3'UTR	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	260							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCTGAACATCGAGGCCACATA	0.632000													51	77					0	0	1	0	0
SNHG19	100507303	broad.mit.edu	37	16	2205072	2205072	+	RNA	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:2205072G>C	ENST00000563192.1	-	0	216				SNORD60_ENST00000383903.1_RNA																							GTTTTCATACGAGGTGTCAGA	0.537000													47	11					0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148876575	148876575	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:148876575G>A	ENST00000296051.2	+	10	1954	c.1814G>A	c.(1813-1815)gGa>gAa	p.G605E	HPS3_ENST00000460120.1_Missense_Mutation_p.G440E	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	605						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TACGAGAGAGGATTAATCTTT	0.348000									Hermansky-Pudlak syndrome				45	84					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	145051568	145051568	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:145051568G>A	ENST00000367545.3	+	53	7885	c.7885G>A	c.(7885-7887)Gat>Aat	p.D2629N	UTRN_ENST00000367526.4_Missense_Mutation_p.D184N	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2629					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.D2629N(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTTCTTGGCTGATCAGCCAAT	0.448000													19	39					0	0	1	0	0
CCSER1	401145	broad.mit.edu	37	4	91230191	91230191	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:91230191C>G	ENST00000509176.1	+	2	1044	c.756C>G	c.(754-756)acC>acG	p.T252T	CCSER1_ENST00000432775.2_Silent_p.T252T|CCSER1_ENST00000333691.8_Silent_p.T252T	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		CTGATCTTACCACAGCTCAGA	0.438000													32	57					0	0	1	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18123337	18123337	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr20:18123337C>G	ENST00000435364.3	+	1	374	c.33C>G	c.(31-33)atC>atG	p.I11M	CSRP2BP_ENST00000377681.3_Missense_Mutation_p.I11M|PET117_ENST00000432901.3_3'UTR	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein						histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GTAGTCTGATCAGTCGGCATG	0.527000													22	25					0	0	1	0	0
PRKD2	25865	broad.mit.edu	37	19	47181774	47181774	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:47181774C>T	ENST00000433867.1	-	17	2694	c.2217G>A	c.(2215-2217)gtG>gtA	p.V739V	PRKD2_ENST00000595515.1_Silent_p.V739V|PRKD2_ENST00000601806.1_Silent_p.V582V|PRKD2_ENST00000291281.4_Silent_p.V739V|PRKD2_ENST00000600194.1_Silent_p.V582V	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	Q9BZL6	KPCD2_HUMAN	protein kinase D2	739	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CGTACATGATCACGCCCACTG	0.627000													57	56					0	0	1	0	0
RPL24	6152	broad.mit.edu	37	3	101399989	101399989	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:101399989C>T	ENST00000394077.3	-	6	569	c.464G>A	c.(463-465)gGa>gAa	p.G155E	RPL24_ENST00000495401.1_3'UTR	NM_000986.3	NP_000977.1	P83731	RL24_HUMAN	ribosomal protein L24	155					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			large_intestine(1)|lung(2)|urinary_tract(1)	4						TTAGCGTTTTCCACCAACTCG	0.378000													151	132					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128318060	128318060	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:128318060C>A	ENST00000368227.3	-	18	3155	c.2789G>T	c.(2788-2790)gGa>gTa	p.G930V	PTPRK_ENST00000368207.3_Missense_Mutation_p.G944V|PTPRK_ENST00000532331.1_Missense_Mutation_p.G934V|PTPRK_ENST00000368226.4_Missense_Mutation_p.G918V|PTPRK_ENST00000368215.3_Missense_Mutation_p.G917V|PTPRK_ENST00000368213.5_Missense_Mutation_p.G918V|PTPRK_ENST00000368210.3_Missense_Mutation_p.G930V			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	917	Tyrosine-protein phosphatase 1.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TATAATGTTTCCATATCGGTT	0.333000													9	19					0.0135373	0.0136032	1	1	0
AMDHD1	144193	broad.mit.edu	37	12	96354209	96354209	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:96354209C>T	ENST00000266736.2	+	5	727	c.621C>T	c.(619-621)atC>atT	p.I207I		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	207					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						CTGATGACATCATCAATAACC	0.403000													17	38					0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64054470	64054470	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:64054470G>C	ENST00000539851.1	+	3	858	c.391G>C	c.(391-393)Gag>Cag	p.E131Q	GPR137_ENST00000313074.3_Missense_Mutation_p.E131Q|GPR137_ENST00000377702.4_Missense_Mutation_p.E131Q|GPR137_ENST00000438980.2_Missense_Mutation_p.E131Q|GPR137_ENST00000411458.1_Missense_Mutation_p.E189Q	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	131						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						GCGTCGGCCGGAGATGAGCCG	0.632000													10	22					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144931419	144931419	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:144931419T>C	ENST00000529945.1	-	1	729	c.290A>G	c.(289-291)tAt>tGt	p.Y97C	PDE4DIP_ENST00000313431.9_Missense_Mutation_p.Y97C|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369359.4_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATTCTTCCGATACATACTGGC	0.517000			T	PDGFRB	MPD								111	327					0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50682726	50682726	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr22:50682726G>A	ENST00000439308.2	-	1	655	c.163C>T	c.(163-165)Caa>Taa	p.Q55*	TUBGCP6_ENST00000248846.5_Nonsense_Mutation_p.Q55*	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	55					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCAGCTGTTGAGTCTCATCT	0.532000													61	97					0	0	1	0	0
PRMT7	54496	broad.mit.edu	37	16	68380131	68380131	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:68380131G>C	ENST00000339507.5	+	11	1969	c.1139G>C	c.(1138-1140)gGa>gCa	p.G380A	PRMT7_ENST00000348497.4_Missense_Mutation_p.G306A|PRMT7_ENST00000449359.3_Missense_Mutation_p.G330A|PRMT7_ENST00000441236.1_Missense_Mutation_p.G330A			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	380					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CCTCGGTTTGGAGAGATCAAT	0.562000													49	63					0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97983819	97983819	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:97983819C>G	ENST00000383696.2	+	1	732	c.691C>G	c.(691-693)Ctt>Gtt	p.L231V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGGAACTATTCTTATATCTTA	0.338000													21	31					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18767220	18767220	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:18767220G>A	ENST00000406451.4	+	13	1890	c.1740G>A	c.(1738-1740)acG>acA	p.T580T	HDAC9_ENST00000432645.2_Silent_p.T580T|HDAC9_ENST00000401921.1_Silent_p.T539T|HDAC9_ENST00000441542.2_Silent_p.T583T	NM_178423.1	NP_848510.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9						B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGGAACCCACGCACACACGTG	0.527000													4	14					0	0	1	0	0
KRBA1	84626	broad.mit.edu	37	7	149419541	149419541	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:149419541G>A	ENST00000255992.10	+	6	894	c.495G>A	c.(493-495)agG>agA	p.R165R	KRBA1_ENST00000485033.2_Silent_p.R165R|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Silent_p.R165R	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	165										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCCTACAAGGAAGGAAGGCC	0.607000													3	9					0	0	1	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77239552	77239552	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:77239552C>T	ENST00000426126.2	+	13	2042	c.1393C>T	c.(1393-1395)Cat>Tat	p.H465Y	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.H465Y|ZDHHC17_ENST00000550789.1_3'UTR	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	465					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						AAAATTTGATCATCATTGCCC	0.348000													102	113					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138604031	138604031	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:138604031G>C	ENST00000440172.1	-	2	389	c.341C>G	c.(340-342)tCt>tGt	p.S114C	KIAA1549_ENST00000422774.1_Missense_Mutation_p.S114C|KIAA1549_ENST00000242365.4_Missense_Mutation_p.S64C	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	114						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGTAGTGGCAGACGGCGGGGC	0.517000			O	BRAF	pilocytic astrocytoma								58	55					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120575576	120575576	+	Missense_Mutation	SNP	C	C	T	rs146550123	by1000genomes	TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:120575576C>T	ENST00000300648.6	-	49	6448	c.6436G>A	c.(6436-6438)Gac>Aac	p.D2146N		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2146					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCCCTGTGTCATCCTCTACG	0.582000													23	21					0	0	1	0	0
ABHD16A	7920	broad.mit.edu	37	6	31669889	31669889	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:31669889G>A	ENST00000395952.3	-	2	313	c.151C>T	c.(151-153)Cgt>Tgt	p.R51C	ABHD16A_ENST00000538874.1_5'UTR|ABHD16A_ENST00000440843.2_Intron|ABHD16A_ENST00000375842.4_5'UTR|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	51						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						TCCAGGGCACGGGGCTGATAG	0.547000													19	54					0	0	1	0	0
FNDC3B	64778	broad.mit.edu	37	3	172061902	172061902	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:172061902G>A	ENST00000336824.4	+	19	2203	c.2104G>A	c.(2104-2106)Gag>Aag	p.E702K	FNDC3B_ENST00000415807.2_Missense_Mutation_p.E702K|FNDC3B_ENST00000416957.1_Missense_Mutation_p.E702K	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	702	Fibronectin type-III 5.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AAGTGGCTGTGAGGTCTCAGA	0.517000													148	132					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12123634	12123634	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:12123634C>T	ENST00000379388.2	+	4	3938	c.3606C>T	c.(3604-3606)ctC>ctT	p.L1202L		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1202					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAGACGCTCTCAGAGGAGAAC	0.517000													3	34					0	0	1	0	0
SPP1	6696	broad.mit.edu	37	4	88902684	88902684	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:88902684G>T	ENST00000237623.7	+	5	380	c.232G>T	c.(232-234)Gat>Tat	p.D78Y	SPP1_ENST00000395080.3_Missense_Mutation_p.D92Y|SPP1_ENST00000360804.4_Missense_Mutation_p.D65Y|SPP1_ENST00000509659.1_3'UTR	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	92					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		GGATGATGAAGATGATGATGA	0.428000													128	91					3.41882e-60	3.65501e-60	1	1	0
ZNF816	125893	broad.mit.edu	37	19	53432634	53432634	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:53432634G>A	ENST00000549216.1	-	2	87	c.17C>T	c.(16-18)tCa>tTa	p.S6L	ZNF321P_ENST00000391777.3_Missense_Mutation_p.S75L|ZNF816_ENST00000434371.2_Missense_Mutation_p.S75L|ZNF816-ZNF321P_ENST00000313956.4_RNA	NM_001202473.1	NP_001189402.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						CGCTGTGGATGAGAACTCCTT	0.353000													104	88					0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145661307	145661307	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:145661307C>T	ENST00000409379.3	-	17	2538	c.2509G>A	c.(2509-2511)Gag>Aag	p.E837K	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	837					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						ATGTCCAGCTCCAGCCAGTCC	0.736000													9	17					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131767776	131767776	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:131767776C>T	ENST00000372577.2	+	40	4725	c.4704C>T	c.(4702-4704)ttC>ttT	p.F1568F		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1568					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGCGCCACTTCACCCCAGATG	0.577000													40	61					0	0	1	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21914240	21914240	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr18:21914240C>T	ENST00000319481.3	-	6	655	c.449G>A	c.(448-450)aGa>aAa	p.R150K		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	150					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTTGCCTTCTCTTGCTGCTGC	0.363000													30	51					0	0	1	0	0
SYNGR2	9144	broad.mit.edu	37	17	76168061	76168061	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:76168061C>G	ENST00000588282.1	+	3	814	c.808C>G	c.(808-810)Ctg>Gtg	p.L270V	SYNGR2_ENST00000225777.3_3'UTR|SYNGR2_ENST00000585591.1_Intron|SYNGR2_ENST00000589711.1_3'UTR|SYNGR2_ENST00000592456.1_3'UTR|SYNGR2_ENST00000590201.1_3'UTR	NM_004710.3	NP_004701.1	O43760	SNG2_HUMAN	synaptogyrin 2	0						integral to plasma membrane				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			GCCCTCCCCTCTGCCCTGGAC	0.632000													47	7					0	0	1	0	0
PREP	5550	broad.mit.edu	37	6	105825294	105825294	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:105825294G>A	ENST00000369110.3	-	3	413	c.221C>T	c.(220-222)cCc>cTc	p.P74L		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	74					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	ACTATACTTGGGATAATCATA	0.358000													29	106					0	0	1	0	0
GPR161	23432	broad.mit.edu	37	1	168056841	168056841	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:168056841C>A	ENST00000367838.1	-	7	1619	c.1306G>T	c.(1306-1308)Gaa>Taa	p.E436*	GPR161_ENST00000361697.2_Nonsense_Mutation_p.E436*|GPR161_ENST00000271357.5_Nonsense_Mutation_p.E436*|GPR161_ENST00000367836.1_Nonsense_Mutation_p.E304*|GPR161_ENST00000546300.1_Nonsense_Mutation_p.E322*|GPR161_ENST00000539777.1_Nonsense_Mutation_p.E358*|GPR161_ENST00000537209.1_Nonsense_Mutation_p.E456*|GPR161_ENST00000367835.1_Nonsense_Mutation_p.E436*	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	436					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					TGTTCCACTTCATCCTCAAAT	0.483000													95	143					1.15365e-47	1.23122e-47	1	1	0
HTT	3064	broad.mit.edu	37	4	3208581	3208581	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:3208581C>G	ENST00000355072.5	+	44	6091	c.5946C>G	c.(5944-5946)ctC>ctG	p.L1982L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1982					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GGATCCATCTCAGCCAGTCGG	0.507000													49	45					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121187223	121187223	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:121187223G>C	ENST00000264233.5	-	23	6902	c.6774C>G	c.(6772-6774)atC>atG	p.I2258M		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2258					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTGGCATTTTGATTTCAAAAT	0.383000								DNA polymerases (catalytic subunits)					81	140					0	0	1	0	0
INTS5	80789	broad.mit.edu	37	11	62416485	62416485	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:62416485G>C	ENST00000330574.2	-	2	1119	c.1067C>G	c.(1066-1068)tCt>tGt	p.S356C		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	356					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AAGCTCTCCAGAGACAGTGCC	0.607000													43	96					0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92838029	92838029	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:92838029G>A	ENST00000394468.2	-	4	953	c.876C>T	c.(874-876)atC>atT	p.I292I	HEPACAM2_ENST00000453812.2_Silent_p.I315I|HEPACAM2_ENST00000341723.4_Silent_p.I280I|HEPACAM2_ENST00000440868.1_Silent_p.I280I	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	292	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CATGCTTAATGATATATGTAG	0.463000													37	59					0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595757	140595757	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:140595757G>A	ENST00000341948.4	+	1	2249	c.2062G>A	c.(2062-2064)Gtc>Atc	p.V688I		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		688					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTGCTCACCGTCTACCTGGT	0.687000													89	168					0	0	1	0	0
NAA25	80018	broad.mit.edu	37	12	112530905	112530905	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:112530905G>A	ENST00000261745.4	-	2	342	c.94C>T	c.(94-96)Cag>Tag	p.Q32*		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	32						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TCTGCTTGCTGAATTGCCATT	0.308000													54	70					0	0	1	0	0
SLC26A6	65010	broad.mit.edu	37	3	48664109	48664109	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:48664109C>T	ENST00000358747.6	-	18	2270	c.2020G>A	c.(2020-2022)Gac>Aac	p.D674N	SLC26A6_ENST00000383733.3_Missense_Mutation_p.D676N|SLC26A6_ENST00000455886.2_Missense_Mutation_p.D659N|SLC26A6_ENST00000337000.8_Missense_Mutation_p.D587N|SLC26A6_ENST00000420764.2_Missense_Mutation_p.D694N|SLC26A6_ENST00000395550.2_Missense_Mutation_p.D695N	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		TCCCGGAAGTCATGGAAAATC	0.602000													166	307					0	0	1	0	0
RAB38	23682	broad.mit.edu	37	11	87908415	87908415	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:87908415G>C	ENST00000243662.6	-	1	220	c.138C>G	c.(136-138)ttC>ttG	p.F46L		NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	46					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CCTTGAGCGCGAAGTCCACGC	0.637000													32	9					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33987087	33987087	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:33987087C>G	ENST00000373381.4	-	68	10749	c.10573G>C	c.(10573-10575)Ggg>Cgg	p.G3525R		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3381						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCGAACTGCCCAAAGCCTTGG	0.602000													37	69					0	0	1	0	0
ACOX1	51	broad.mit.edu	37	17	73949633	73949633	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:73949633G>C	ENST00000537812.1	-	7	1377	c.729C>G	c.(727-729)gtC>gtG	p.V243V	ACOX1_ENST00000293217.5_Silent_p.V281V|ACOX1_ENST00000301608.4_Silent_p.V281V	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	281					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						GGAAGGACCTGACAAACACCA	0.527000													94	14					0	0	1	0	0
CD247	919	broad.mit.edu	37	1	167408587	167408587	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:167408587G>C	ENST00000392122.3	-	3	357	c.213C>G	c.(211-213)ctC>ctG	p.L71L	CD247_ENST00000362089.5_Silent_p.L71L|CD247_ENST00000483825.1_5'UTR	NM_000734.3|NM_198053.2	NP_000725.1|NP_932170.1	P20963	CD3Z_HUMAN	CD247 molecule	71	ITAM 1.				interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)			TTACGTTATAGAGCTGGTTCT	0.627000													53	103					0	0	1	0	0
ZBTB6	10773	broad.mit.edu	37	9	125673781	125673781	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:125673781C>G	ENST00000373659.3	-	2	659	c.571G>C	c.(571-573)Gag>Cag	p.E191Q		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						GTCAGACTCTCTACTGTAGAC	0.353000													35	36					0	0	1	0	0
TNPO1	3842	broad.mit.edu	37	5	72188999	72188999	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:72188999G>A	ENST00000337273.5	+	16	2248	c.1822G>A	c.(1822-1824)Gga>Aga	p.G608R	TNPO1_ENST00000523768.1_Missense_Mutation_p.G558R|TNPO1_ENST00000506351.2_Missense_Mutation_p.G600R|TNPO1_ENST00000454282.1_Missense_Mutation_p.G558R	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	608					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		ACTGCAGTCTGGATTCCTTCC	0.398000													46	140					0	0	1	0	0
SLC9B1	150159	broad.mit.edu	37	4	103832596	103832596	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:103832596C>T	ENST00000296422.7	-	8	1069	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	SLC9B1_ENST00000512651.2_Intron|SLC9B1_ENST00000394789.3_Missense_Mutation_p.E310K	NM_139173.3	NP_631912	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	310						integral to membrane	solute:hydrogen antiporter activity										ACCTGGTCTTCACTTGGAAAA	0.299000													17	34					0	0	1	0	0
RGAG4	340526	broad.mit.edu	37	X	71350506	71350506	+	Silent	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chrX:71350506G>T	ENST00000545866.1	-	1	1252	c.885C>A	c.(883-885)gcC>gcA	p.A295A	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Silent_p.A295A	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	295										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CATCCAGGTCGGCCATTTCTG	0.493000													127	7					6.60522e-78	7.08602e-78	1	1	0
OSMR	9180	broad.mit.edu	37	5	38884065	38884065	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:38884065G>A	ENST00000274276.3	+	5	957	c.555G>A	c.(553-555)caG>caA	p.Q185Q	OSMR_ENST00000502536.1_Silent_p.Q185Q	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	185					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AAGGGAAACAGATTCATGGAG	0.373000													62	27					0	0	1	0	0
PRKD2	25865	broad.mit.edu	37	19	47204090	47204090	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:47204090C>T	ENST00000433867.1	-	8	1564	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	PRKD2_ENST00000595515.1_Missense_Mutation_p.E363K|PRKD2_ENST00000601806.1_Missense_Mutation_p.E206K|PRKD2_ENST00000291281.4_Missense_Mutation_p.E363K|PRKD2_ENST00000600194.1_Missense_Mutation_p.E206K	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	Q9BZL6	KPCD2_HUMAN	protein kinase D2	363					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TCCTCCTCCTCACTGGCGTGG	0.587000													35	34					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44918318	44918318	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chrX:44918318G>C	ENST00000377967.4	+	11	984	c.943G>C	c.(943-945)Gaa>Caa	p.E315Q	KDM6A_ENST00000382899.4_Missense_Mutation_p.E315Q|KDM6A_ENST00000536777.1_Missense_Mutation_p.E315Q|KDM6A_ENST00000543216.1_Missense_Mutation_p.E315Q	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	315					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TGATAAATCAGAAGCAAGTGC	0.328000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								42	7					0	0	1	0	0
SERINC3	10955	broad.mit.edu	37	20	43129838	43129838	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr20:43129838C>G	ENST00000342374.4	-	9	1316	c.1159G>C	c.(1159-1161)Gat>Cat	p.D387H	SERINC3_ENST00000255175.1_Missense_Mutation_p.D387H|SERINC3_ENST00000541235.1_Missense_Mutation_p.D332H	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	387						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GGCTGTCCATCTTCTTCATCA	0.517000													70	101					0	0	1	0	0
IFIT2	3433	broad.mit.edu	37	10	91066854	91066854	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:91066854C>T	ENST00000371826.3	+	2	1310	c.1141C>T	c.(1141-1143)Cag>Tag	p.Q381*	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	381					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				TGGCAACTTTCAGCTGTACCA	0.403000													74	41					0	0	1	0	0
KLRG2	346689	broad.mit.edu	37	7	139168067	139168067	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:139168067C>G	ENST00000340940.4	-	1	391	c.322G>C	c.(322-324)Gag>Cag	p.E108Q	KLRG2_ENST00000393039.2_Missense_Mutation_p.E108Q	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G, member 2	108	Pro-rich.					integral to membrane	sugar binding			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					CCGGGCGCCTCGCCATTCCGG	0.771000													6	6					0	0	1	0	0
CDK11A	728642	broad.mit.edu	37	1	1635767	1635767	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:1635767C>G	ENST00000356200.3	-	14	1713	c.1479G>C	c.(1477-1479)ctG>ctC	p.L493L	CDK11A_ENST00000358779.5_Silent_p.L517L|CDK11A_ENST00000495016.1_5'UTR|CDK11A_ENST00000404249.3_Silent_p.L527L|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000357760.2_Silent_p.L526L|CDK11A_ENST00000378638.2_Silent_p.L493L|CDK11A_ENST00000378633.1_Silent_p.L530L					cyclin-dependent kinase 11A											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						GCTGGATCATCAGGGTCTTCA	0.672000													10	36					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3432571	3432571	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:3432571G>C	ENST00000336727.3	+	17	4907	c.4003G>C	c.(4003-4005)Gag>Cag	p.E1335Q	RGS12_ENST00000338806.4_Missense_Mutation_p.E687Q|RGS12_ENST00000382788.3_Missense_Mutation_p.E1335Q|RGS12_ENST00000538395.1_3'UTR|RGS12_ENST00000344733.5_Missense_Mutation_p.E1335Q	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1335						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGTGGAGGATGAGCACGTGGC	0.692000													34	44					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20807249	20807249	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:20807249C>G	ENST00000601440.1	-	4	1580	c.1434G>C	c.(1432-1434)gaG>gaC	p.E478D	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TGTAGGGTCTCTCTCCAGTAT	0.378000													3	11					0	0	1	0	0
TERF2IP	54386	broad.mit.edu	37	16	75690294	75690294	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:75690294C>A	ENST00000300086.4	+	3	1082	c.985C>A	c.(985-987)Cta>Ata	p.L329I		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	329					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						TAACTTGGATCTATCAACAGT	0.443000													93	168					1.4958e-60	1.6019e-60	1	1	0
WHSC1	7468	broad.mit.edu	37	4	1918624	1918624	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:1918624C>T	ENST00000503128.1	+	4	994	c.787C>T	c.(787-789)Cac>Tac	p.H263Y	WHSC1_ENST00000514045.1_Missense_Mutation_p.H263Y|WHSC1_ENST00000398261.1_Missense_Mutation_p.H263Y|WHSC1_ENST00000382895.3_Missense_Mutation_p.H263Y|WHSC1_ENST00000382892.2_Missense_Mutation_p.H263Y|WHSC1_ENST00000382891.5_Missense_Mutation_p.H263Y|WHSC1_ENST00000420906.2_Missense_Mutation_p.H263Y|WHSC1_ENST00000508803.1_Missense_Mutation_p.H263Y			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	263	PWWP 1.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		ACGCCAGTATCACGTACAGTT	0.383000			T	IGH@	MM								22	27					0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67957499	67957499	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:67957499C>G	ENST00000304363.4	-	2	398	c.45G>C	c.(43-45)agG>agC	p.R15S	SUV420H1_ENST00000405515.1_Missense_Mutation_p.R15S|SUV420H1_ENST00000402185.2_Missense_Mutation_p.R15S|SUV420H1_ENST00000401547.2_Missense_Mutation_p.R15S|SUV420H1_ENST00000402789.1_Missense_Mutation_p.R15S	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CTCCATTTCTCCTGCCATTCA	0.473000													302	550					0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107845202	107845202	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:107845202C>T	ENST00000285311.3	-	4	1394	c.689G>A	c.(688-690)cGt>cAt	p.R230H	DKK2_ENST00000510463.1_Missense_Mutation_p.R184H|DKK2_ENST00000513208.1_Missense_Mutation_p.R130H	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	230	DKK-type Cys-2.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		p.R230H(3)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		ACAGTCGCAACGCTGGAAAAT	0.488000													47	100					0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35251274	35251274	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:35251274C>G	ENST00000329285.8	-	4	805	c.432G>C	c.(430-432)gaG>gaC	p.E144D		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CAGGGCATATCTCTTTGTGGG	0.448000													44	161					0	0	1	0	0
ZBTB6	10773	broad.mit.edu	37	9	125673538	125673538	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:125673538C>G	ENST00000373659.3	-	2	902	c.814G>C	c.(814-816)Gat>Cat	p.D272H		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						AAGCCCTGATCTTGATTCCCA	0.428000													23	39					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135203113	135203113	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:135203113T>C	ENST00000372169.2	-	10	4054	c.3872A>G	c.(3871-3873)aAg>aGg	p.K1291R	SETX_ENST00000393220.1_Missense_Mutation_p.K1291R|SETX_ENST00000224140.5_Missense_Mutation_p.K1291R			Q7Z333	SETX_HUMAN	senataxin	1291					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACGAGGACCCTTTTTCAGGCC	0.438000													3	149					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117045884	117045884	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:117045884G>A	ENST00000355044.3	+	15	2518	c.2392G>A	c.(2392-2394)Gaa>Aaa	p.E798K		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	798	C-type lectin.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGTTCTGGATGAAATACAGAA	0.269000													35	71					0	0	1	0	0
ZNF800	168850	broad.mit.edu	37	7	127014125	127014125	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:127014125G>C	ENST00000393313.1	-	5	1856	c.1265C>G	c.(1264-1266)tCc>tGc	p.S422C	ZNF800_ENST00000265827.3_Missense_Mutation_p.S422C|ZNF800_ENST00000393312.1_Missense_Mutation_p.S422C			Q2TB10	ZN800_HUMAN	zinc finger protein 800	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						ATGGGTAATGGAAGGGGGTGA	0.353000													55	84					0	0	1	0	0
EDEM2	55741	broad.mit.edu	37	20	33703305	33703305	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr20:33703305G>A	ENST00000374492.3	-	11	1773	c.1668C>T	c.(1666-1668)ctC>ctT	p.L556L	EDEM2_ENST00000374491.3_Silent_p.L519L|EDEM2_ENST00000541621.1_Silent_p.L335L|EDEM2_ENST00000542871.1_Silent_p.L280L	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	556			L -> F (in dbSNP:rs1052056).		post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TGGGGCAGCTGAGAAGTGGGA	0.488000													131	193					0	0	1	0	0
TMBIM6	7009	broad.mit.edu	37	12	50135944	50135944	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:50135944G>A	ENST00000423828.1	+	1	353	c.25G>A	c.(25-27)Gag>Aag	p.E9K	TMBIM6_ENST00000549385.1_Intron|TMBIM6_ENST00000267115.5_Intron|TMBIM6_ENST00000552699.1_Missense_Mutation_p.E9K	NM_001098576.1	NP_001092046.1	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	0					apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus		p.E9Q(1)		lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						TGTGACACGCGAGGCTCCTCA	0.682000													8	15					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32716581	32716581	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:32716581C>G	ENST00000421745.2	+	44	8430	c.8296C>G	c.(8296-8298)Ctt>Gtt	p.L2766V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2766					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGTGAAATTTCTTTCTGGCAC	0.398000													72	101					0	0	1	0	0
CHCHD1	118487	broad.mit.edu	37	10	75542839	75542839	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:75542839G>A	ENST00000372833.5	+	3	264	c.251G>A	c.(250-252)cGa>cAa	p.R84Q	CHCHD1_ENST00000372837.3_3'UTR	NM_203298.2	NP_976043.1	Q96BP2	CHCH1_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 1	84						nucleus				breast(1)	1	Prostate(51;0.0112)					CAGGAAGCCCGAAAGATGAGA	0.378000													58	71					0	0	1	0	0
CRLF2	64109	broad.mit.edu	37	X	1327784	1327784	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chrX:1327784G>A	ENST00000381567.3	-	2	96	c.97C>T	c.(97-99)Cag>Tag	p.Q33*	CRLF2_ENST00000381566.1_Nonsense_Mutation_p.Q33*|CRLF2_ENST00000467626.1_5'UTR	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	33						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TAGATGATCTGAATCTGTACT	0.408000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""								76	18					0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189690804	189690804	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:189690804C>T	ENST00000319332.5	-	11	1755	c.1558G>A	c.(1558-1560)Gaa>Aaa	p.E520K	LEPREL1_ENST00000427335.2_Missense_Mutation_p.E339K	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	520					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ACTCGACCTTCATAACCAGAC	0.398000													40	38					0	0	1	0	0
FBXO2	26232	broad.mit.edu	37	1	11708844	11708844	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:11708844G>A	ENST00000354287.4	-	6	1139	c.798C>T	c.(796-798)ttC>ttT	p.F266F		NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN	F-box protein 2	266	FBA.				glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex	sugar binding|ubiquitin-protein ligase activity			kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		CGAAGCGGACGAAGCGGACGC	0.677000													137	103					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123737147	123737147	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:123737147C>G	ENST00000223642.1	-	30	3956	c.3927G>C	c.(3925-3927)ttG>ttC	p.L1309F		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1309					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TGTCCATACTCAAGCGGAGTT	0.403000													101	131					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130287162	130287162	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:130287162G>C	ENST00000358511.6	+	5	2146	c.2115G>C	c.(2113-2115)ctG>ctC	p.L705L	COL6A6_ENST00000453409.2_Silent_p.L705L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	705	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTAGTGCCCTGAGCTTTGTGT	0.488000													124	102					0	0	1	0	0
ZNF513	130557	broad.mit.edu	37	2	27600419	27600419	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:27600419G>T	ENST00000323703.6	-	4	1817	c.1619C>A	c.(1618-1620)tCa>tAa	p.S540*	ZNF513_ENST00000407879.1_Nonsense_Mutation_p.S478*	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	540					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTCAGGATGAGTCTGTGTG	0.607000													32	56					8.16277e-20	8.46358e-20	1	1	0
SIRPB2	284759	broad.mit.edu	37	20	1457856	1457856	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr20:1457856C>T	ENST00000537284.1	-	5	908	c.572G>A	c.(571-573)gGa>gAa	p.G191E	SIRPB2_ENST00000359801.3_Intron|SIRPB2_ENST00000444444.2_Intron			Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	0	Ig-like V-type 2.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GAGATGAAGTCCTGGGAGCAT	0.522000													11	7					0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149153043	149153043	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:149153043G>A	ENST00000247930.4	-	2	394	c.71C>T	c.(70-72)cCt>cTt	p.P24L		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GAGTCCAGCAGGGGCCTGACG	0.547000													39	54					0	0	1	0	0
OR52I1	390037	broad.mit.edu	37	11	4615695	4615695	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:4615695C>G	ENST00000450052.2	+	2	499	c.499C>G	c.(499-501)Caa>Gaa	p.Q167E	OR52I1_ENST00000530443.2_Missense_Mutation_p.Q143E			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTCACGCCTCAAGTGATGCT	0.507000													53	10					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72176165	72176165	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:72176165C>G	ENST00000555818.1	+	15	4403	c.4055C>G	c.(4054-4056)tCa>tGa	p.S1352*	SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.S1331*|SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.S1331*|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Nonsense_Mutation_p.S806*	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1352	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCACCTCGCTCAGGGCCAGGC	0.612000													32	50					0	0	1	0	0
NME7	29922	broad.mit.edu	37	1	169292506	169292506	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:169292506G>A	ENST00000367811.3	-	3	383	c.127C>T	c.(127-129)Cat>Tat	p.H43Y	NME7_ENST00000469474.1_5'UTR|NME7_ENST00000472647.1_Missense_Mutation_p.H7Y	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	43	DM10.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					AAGGTGCGATGATTCTTTACA	0.308000													68	106					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64522742	64522742	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:64522742C>T	ENST00000358025.3	+	49	10055	c.9825C>T	c.(9823-9825)ctC>ctT	p.L3275L	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.L3275L|SYNE2_ENST00000554584.1_Silent_p.L3308L	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3275					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCACTTCCCTCGAAGCCATCA	0.408000													44	53					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39432167	39432167	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr13:39432167C>G	ENST00000280481.7	+	13	7428	c.7212C>G	c.(7210-7212)atC>atG	p.I2404M		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2404					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCATCTGTATCACAGTGAGTA	0.353000													43	88					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82455344	82455344	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:82455344C>T	ENST00000370715.1	+	21	3730	c.3514C>T	c.(3514-3516)Ctc>Ttc	p.L1172F	LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000271029.4_Intron|LPHN2_ENST00000394879.1_Intron|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000370725.1_Intron|LPHN2_ENST00000370728.1_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Intron|LPHN2_ENST00000370721.1_Intron|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000370717.2_Intron|LPHN2_ENST00000370730.1_Intron|LPHN2_ENST00000335786.5_Intron			O95490	LPHN2_HUMAN	latrophilin 2	0					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATATCAGCTACTCTTAGGCCA	0.403000													78	105					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103898696	103898696	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:103898696G>A	ENST00000278070.2	+	4	589	c.550G>A	c.(550-552)Gac>Aac	p.D184N	PPRC1_ENST00000413464.2_Missense_Mutation_p.D184N	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CACCCCAGTTGACCCACTGGG	0.562000													67	55					0	0	1	0	0
CDH3	1001	broad.mit.edu	37	16	68721629	68721629	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:68721629C>T	ENST00000264012.4	+	12	2329	c.1785C>T	c.(1783-1785)gtC>gtT	p.V595V	CDH3_ENST00000429102.2_Silent_p.V595V|CDH3_ENST00000581171.1_Silent_p.V540V	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	595	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CGGCAGAGGTCAACGAGGAAG	0.602000													29	42					0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79366148	79366148	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:79366148G>C	ENST00000350881.2	+	11	1557	c.1367G>C	c.(1366-1368)gGa>gCa	p.G456A	CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.G365A	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	456	EGF-like 4.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GGTTGGGCTGGAGATGGCTAT	0.562000													15	76					0	0	1	0	0
ASRGL1	80150	broad.mit.edu	37	11	62159721	62159721	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:62159721G>C	ENST00000415229.2	+	7	1107	c.892G>C	c.(892-894)Gat>Cat	p.D298H	CTD-2531D15.5_ENST00000526045.1_RNA|ASRGL1_ENST00000301776.5_Missense_Mutation_p.D298H	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	298					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	CTTCGGAATTGATCCTGACGA	0.527000											OREG0021023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	60					0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107289386	107289386	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:107289386G>A	ENST00000277216.3	-	1	104	c.105C>T	c.(103-105)taC>taT	p.Y35Y		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GAATCACTACGTACATAACTA	0.413000													68	81					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129902126	129902126	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:129902126C>G	ENST00000368654.3	-	13	8353	c.7978G>C	c.(7978-7980)Gaa>Caa	p.E2660Q	MKI67_ENST00000368653.3_Missense_Mutation_p.E2300Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2660	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTGCTGGGTTCCTCTTCTACT	0.517000													83	70					0	0	1	0	0
GOLGA1	2800	broad.mit.edu	37	9	127689002	127689002	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:127689002C>G	ENST00000373555.4	-	7	751	c.418G>C	c.(418-420)Gat>Cat	p.D140H		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	140						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TCAAGCTGATCCATCTTTTCT	0.343000													53	113					0	0	1	0	0
CDK11B	984	broad.mit.edu	37	1	1572548	1572548	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:1572548C>G	ENST00000407249.3	-	16	1595	c.1596G>C	c.(1594-1596)ctG>ctC	p.L532L	CDK11B_ENST00000317673.7_Silent_p.L530L|CDK11B_ENST00000341832.6_Silent_p.L485L|CDK11B_ENST00000340677.5_Silent_p.L519L			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	542	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						GCTGGATCATCAGGGTCTTCA	0.652000													6	88					0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35251122	35251122	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:35251122C>G	ENST00000329285.8	-	4	957	c.584G>C	c.(583-585)aGg>aCg	p.R195T		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AGGGTTATTCCTTGCATCAGT	0.493000													37	83					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123019119	123019119	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:123019119G>A	ENST00000462833.1	-	15	3960	c.2748C>T	c.(2746-2748)ctC>ctT	p.L916L	ADCY5_ENST00000309879.5_Silent_p.L566L|ADCY5_ENST00000491190.1_Silent_p.L549L	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	916					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CCAGCAGGCTGAGCAGCACGC	0.652000													44	40					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70855922	70855922	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:70855922C>T	ENST00000358731.4	+	37	7617	c.7354C>T	c.(7354-7356)Cct>Tct	p.P2452S	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2452					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATCTAGATCTCCTGATGCATG	0.438000													49	34					0	0	1	0	0
CD86	942	broad.mit.edu	37	3	121822489	121822489	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:121822489G>C	ENST00000330540.2	+	3	311	c.195G>C	c.(193-195)ctG>ctC	p.L65L	CD86_ENST00000264468.5_Intron|CD86_ENST00000493101.1_Intron|CD86_ENST00000393627.2_Silent_p.L59L|CD86_ENST00000483949.1_3'UTR|CD86_ENST00000469710.1_5'UTR	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	65	Ig-like V-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	ACTTGGTTCTGAATGAGGTAT	0.438000													110	108					0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127824155	127824155	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:127824155G>A	ENST00000368679.4	-	5	732	c.423C>T	c.(421-423)ctC>ctT	p.L141L	ADAM12_ENST00000368676.4_Silent_p.L141L	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	141					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCACTTACCTGAGACCAGAAC	0.512000													32	67					0	0	1	0	0
PHC1	1911	broad.mit.edu	37	12	9074235	9074235	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:9074235C>G	ENST00000433083.2	+	4	379	c.234C>G	c.(232-234)agC>agG	p.S78R	PHC1_ENST00000536844.1_5'UTR|PHC1_ENST00000543824.1_Missense_Mutation_p.S115R|PHC1_ENST00000544916.1_Missense_Mutation_p.S115R|PHC1_ENST00000433847.2_3'UTR			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	115					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						AGCTCATCAGCCGATCCCAGA	0.557000													28	29					0	0	1	0	0
SETD9	133383	broad.mit.edu	37	5	56207012	56207012	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:56207012C>G	ENST00000285947.2	+	2	501	c.115C>G	c.(115-117)Cca>Gca	p.P39A	SETD9_ENST00000475908.1_Intron|SETD9_ENST00000541720.1_Missense_Mutation_p.P39A	NM_153706.3	NP_714917.2	Q8NE22	CE035_HUMAN	SET domain containing 9	39																	CCGATATGTTCCAGAGGAATC	0.383000													41	23					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12122603	12122603	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:12122603C>T	ENST00000379388.2	+	4	2907	c.2575C>T	c.(2575-2577)Cat>Tat	p.H859Y		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	859					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ACCTCCTCCTCATCCACTAAG	0.443000													36	91					0	0	1	0	0
SERTM1	400120	broad.mit.edu	37	13	37269507	37269507	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr13:37269507C>T	ENST00000315190.3	+	2	738	c.292C>T	c.(292-294)Cag>Tag	p.Q98*		NM_203451.2	NP_982276.2	A2A2V5	CM036_HUMAN	serine-rich and transmembrane domain containing 1	98						integral to membrane											CATTTCCTCTCAGAGGTCCAC	0.483000													35	37					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12337497	12337497	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:12337497C>G	ENST00000358136.3	+	19	3982	c.3852C>G	c.(3850-3852)ctC>ctG	p.L1284L	VPS13D_ENST00000356315.4_Silent_p.L1284L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1284					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGTGTTTTCTCAACCTGAAGA	0.398000													125	134					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577127	7577127	+	Missense_Mutation	SNP	C	C	T	rs67389650		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:7577127C>T	ENST00000420246.2	-	8	943	c.811G>A	c.(811-813)Gag>Aag	p.E271K	TP53_ENST00000359597.4_Missense_Mutation_p.E271K|TP53_ENST00000269305.4_Missense_Mutation_p.E271K|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.E271K|TP53_ENST00000455263.2_Missense_Mutation_p.E271K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	271	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and 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.E271K(28)|p.E271*(18)|p.0?(8)|p.E271Q(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271fs*35(1)|p.E271_R273delEVR(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)		ACACGCACCTCAAAGCTGTTC	0.537000		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)			18	2					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179701672	179701672	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:179701672G>A	ENST00000420890.2	-	23	4391	c.4274C>T	c.(4273-4275)cCa>cTa	p.P1425L	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.P850L	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	850							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CAAAGTCACTGGAGAACCTTC	0.443000													28	8					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6961983	6961983	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr18:6961983G>C	ENST00000389658.3	-	52	7506	c.7413C>G	c.(7411-7413)ctC>ctG	p.L2471L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2471	Laminin G-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGAATTTCTGAGTAAGTCAA	0.403000													83	103					0	0	1	0	0
MOGS	7841	broad.mit.edu	37	2	74689845	74689845	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:74689845C>T	ENST00000233616.4	-	4	1233	c.1071G>A	c.(1069-1071)ctG>ctA	p.L357L	MOGS_ENST00000452063.2_Silent_p.L251L|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	357					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GGGCCTGGGTCAGTAGACTGC	0.542000													55	62					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56646611	56646611	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:56646611G>C	ENST00000389934.3	-	27	4065	c.3948C>G	c.(3946-3948)ttC>ttG	p.F1316L	TEX14_ENST00000349033.5_Missense_Mutation_p.F1276L|TEX14_ENST00000240361.8_Missense_Mutation_p.F1322L	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1322						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GATGCTGTGAGAAGGCTTCTA	0.418000													65	13					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21136611	21136611	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:21136611G>C	ENST00000261383.3	-	9	1288	c.1289C>G	c.(1288-1290)tCa>tGa	p.S430*	DNAH3_ENST00000415178.1_Nonsense_Mutation_p.S430*|CTC-508F8.1_ENST00000575612.1_RNA	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	430	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.S430*(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTTTCGACTTGAGTCATAGTT	0.483000													63	21					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91709233	91709233	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:91709233G>A	ENST00000359028.2	+	32	8047	c.7822G>A	c.(7822-7824)Gag>Aag	p.E2608K	AKAP9_ENST00000356239.3_Missense_Mutation_p.E2596K|AKAP9_ENST00000358100.2_Missense_Mutation_p.E2608K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2608	Glu-rich.				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)			AAGAGAAGATGAGTTGGGGTC	0.318000			T	BRAF	papillary thyroid								50	39					0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182430845	182430845	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:182430845A>G	ENST00000410087.3	-	4	717	c.617T>C	c.(616-618)aTg>aCg	p.M206T	CERKL_ENST00000374969.2_Intron|CERKL_ENST00000339098.5_Missense_Mutation_p.M206T|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.M162T|CERKL_ENST00000374970.2_Intron	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	206	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTCATATTCCATTACTATTAA	0.308000													46	9					0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92921129	92921129	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:92921129G>A	ENST00000544910.1	+	14	1187	c.967G>A	c.(967-969)Gat>Aat	p.D323N	CCDC132_ENST00000305866.5_Missense_Mutation_p.D353N|CCDC132_ENST00000535481.1_Missense_Mutation_p.D73N|CCDC132_ENST00000541136.1_Missense_Mutation_p.D164N|CCDC132_ENST00000317751.6_Missense_Mutation_p.D84N	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	353										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TGACAATGAGGATACTGCTTC	0.368000													33	40					0	0	1	0	0
HTRA2	27429	broad.mit.edu	37	2	74757145	74757145	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:74757145G>A	ENST00000258080.3	+	1	642	c.12G>A	c.(10-12)ccG>ccA	p.P4P	HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Silent_p.P4P	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	4					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	p.P4P(2)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TGGCTGCGCCGAGGGCGGGGC	0.741000													57	67					0	0	1	0	0
YIPF2	78992	broad.mit.edu	37	19	11034009	11034009	+	Silent	SNP	G	G	A	rs151256467	byFrequency	TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:11034009G>A	ENST00000586748.1	-	9	1081	c.909C>T	c.(907-909)atC>atT	p.I303I	YIPF2_ENST00000253031.2_Silent_p.I303I|YIPF2_ENST00000590329.1_Silent_p.I264I			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	303						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						GGGACAGCGCGATGTTTGAGG	0.627000													47	140					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108412274	108412274	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:108412274C>T	ENST00000263054.6	-	18	2348	c.2341G>A	c.(2341-2343)Gta>Ata	p.V781I	SORCS1_ENST00000344440.6_Missense_Mutation_p.V781I|SORCS1_ENST00000369698.1_Missense_Mutation_p.V316I	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	781						integral to membrane	neuropeptide receptor activity|protein binding	p.V781L(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGTTCCCTTACGCCATCAGTG	0.493000													32	95					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179406276	179406276	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:179406276C>G	ENST00000589042.1	-	350	97752	c.97528G>C	c.(97528-97530)Gat>Cat	p.D32510H	TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D23637H|TTN_ENST00000591111.1_Missense_Mutation_p.D30869H|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D29942H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D23570H|TTN_ENST00000460472.2_Missense_Mutation_p.D23445H|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30869	Ig-like 143.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGGGAAACATCAAATATCTGT	0.443000													11	3					0	0	1	0	0
SPECC1L	23384	broad.mit.edu	37	22	24717865	24717865	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr22:24717865G>C	ENST00000314328.9	+	5	1202	c.917G>C	c.(916-918)gGa>gCa	p.G306A	SPECC1L_ENST00000416735.1_Intron|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.G306A|SPECC1L_ENST00000437398.1_Missense_Mutation_p.G306A|SPECC1L_ENST00000541492.1_Missense_Mutation_p.G306A	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	306					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						CAGAGCGATGGAGGAGGAACT	0.493000													65	123					0	0	1	0	0
PRPH2	5961	broad.mit.edu	37	6	42689881	42689881	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:42689881C>G	ENST00000230381.5	-	1	431	c.192G>C	c.(190-192)ttG>ttC	p.L64F		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	64					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			CCATCCCTATCAATGAGTTGG	0.517000													78	70					0	0	1	0	0
SDCCAG3	10807	broad.mit.edu	37	9	139303520	139303520	+	Splice_Site	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:139303520C>G	ENST00000357365.3	-	3	350		c.e3-1		SDCCAG3_ENST00000371725.3_Intron|SDCCAG3_ENST00000298537.7_Intron	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3							cytoplasm				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		TAGCCAAAATCTGCAAAGAAA	0.458000													47	96					0	0	1	0	0
LRRC31	79782	broad.mit.edu	37	3	169574560	169574560	+	Silent	SNP	T	T	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:169574560T>C	ENST00000316428.5	-	4	645	c.588A>G	c.(586-588)aaA>aaG	p.K196K	LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000264676.5_Silent_p.K140K|LRRC31_ENST00000523069.1_Silent_p.K196K	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	196										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TCTTGCTCCCTTTTTGGAACT	0.398000													3	128					0	0	1	0	0
LMNB1	4001	broad.mit.edu	37	5	126147468	126147468	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:126147468G>C	ENST00000261366.5	+	5	1178	c.817G>C	c.(817-819)Gag>Cag	p.E273Q	LMNB1_ENST00000460265.1_3'UTR|LMNB1_ENST00000395354.1_Missense_Mutation_p.E273Q	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	273	Coil 2.|Rod.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		CTTTTAGCTTGAGAATGCCAG	0.423000													30	28					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2814872	2814872	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:2814872G>C	ENST00000301740.8	+	11	4892	c.4343G>C	c.(4342-4344)aGa>aCa	p.R1448T		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1448	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCAGGACTTAGAGATGGGTCT	0.493000													86	22					0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52618746	52618746	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:52618746G>A	ENST00000600228.1	-	4	1932	c.1671C>T	c.(1669-1671)gtC>gtT	p.V557V	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ATTGACTGAAGACCTTGCCAC	0.438000													58	34					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121179028	121179028	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:121179028G>A	ENST00000264233.5	-	25	7149	c.7021C>T	c.(7021-7023)Cat>Tat	p.H2341Y		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2341					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGGGATAAATGAGCCAAGATC	0.428000								DNA polymerases (catalytic subunits)					72	63					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9455272	9455272	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:9455272C>G	ENST00000379719.3	+	18	2095	c.1953C>G	c.(1951-1953)ttC>ttG	p.F651L		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	651					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TTTTAGAATTCTATGAGGAGA	0.383000													59	6					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36486316	36486316	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:36486316C>T	ENST00000342292.4	-	11	3156	c.3136G>A	c.(3136-3138)Gag>Aag	p.E1046K		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1046						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GCGTCCATCTCATTCTCCCCA	0.597000													87	7					0	0	1	0	0
OFD1	8481	broad.mit.edu	37	X	13757019	13757019	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chrX:13757019C>G	ENST00000340096.6	+	4	694	c.367C>G	c.(367-369)Ctc>Gtc	p.L123V	OFD1_ENST00000380567.1_5'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.L123V|OFD1_ENST00000398395.3_Missense_Mutation_p.L123V|OFD1_ENST00000490265.1_3'UTR	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	123					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TACTTCCAGTCTCTACAAATC	0.284000													63	5					0	0	1	0	0
PTPLAD2	401494	broad.mit.edu	37	9	21007098	21007098	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:21007098G>T	ENST00000495827.2	-	7	682	c.637C>A	c.(637-639)Cat>Aat	p.H213N	PTPLAD2_ENST00000513293.2_Missense_Mutation_p.H213N	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2						fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		GAGTATAGATGACTGTAGGTA	0.348000													27	50					2.80507e-11	2.86053e-11	1	1	0
DEPTOR	64798	broad.mit.edu	37	8	120977541	120977541	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:120977541C>T	ENST00000286234.5	+	4	625	c.495C>T	c.(493-495)ttC>ttT	p.F165F	DEPTOR_ENST00000523492.1_Silent_p.F64F	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	165	DEP 2.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						AGCGCACCTTCATGGCATCTG	0.532000													41	61					0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49000753	49000753	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:49000753G>A	ENST00000600059.1	-	11	3800	c.3573C>T	c.(3571-3573)ctC>ctT	p.L1191L	LMTK3_ENST00000270238.3_Silent_p.L1220L					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CGTCTCCGCTGAGTGCCGTGT	0.716000													8	42					0	0	1	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057969	46057969	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr21:46057969C>T	ENST00000380095.1	+	1	697	c.635C>T	c.(634-636)tCt>tTt	p.S212F	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	212	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TGCGGTGCCTCTGCCTCCTCC	0.697000													78	85					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32269279	32269279	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr22:32269279C>G	ENST00000400246.1	+	35	3666	c.3524C>G	c.(3523-3525)tCt>tGt	p.S1175C	DEPDC5_ENST00000400249.2_Missense_Mutation_p.S1144C|DEPDC5_ENST00000400248.2_Missense_Mutation_p.S1144C|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S1175C|DEPDC5_ENST00000266091.3_Missense_Mutation_p.S1153C|DEPDC5_ENST00000382105.2_Missense_Mutation_p.S1097C|DEPDC5_ENST00000539165.1_5'UTR|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000382112.3_Missense_Mutation_p.S1166C|DEPDC5_ENST00000535622.1_Missense_Mutation_p.S1075C			O75140	DEPD5_HUMAN	DEP domain containing 5	1144	DEP.				intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACCTCATCCTCTACCCTGACA	0.547000													67	117					0	0	1	0	0
TTC36	143941	broad.mit.edu	37	11	118399332	118399332	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:118399332C>G	ENST00000302783.4	+	2	156	c.133C>G	c.(133-135)Caa>Gaa	p.Q45E	RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000556583.1_RNA|TTC36_ENST00000539546.1_5'UTR|RP11-770J1.3_ENST00000528578.1_RNA	NM_001080441.1	NP_001073910.1	A6NLP5	TTC36_HUMAN	tetratricopeptide repeat domain 36	45							binding			lung(2)	2						AGTTTTCCCTCAAGCACAGCT	0.572000													56	10					0	0	1	0	0
EXOSC9	5393	broad.mit.edu	37	4	122737544	122737544	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:122737544G>C	ENST00000512454.1	+	10	1345	c.1129G>C	c.(1129-1131)Gat>Cat	p.D377H	EXOSC9_ENST00000379663.3_Missense_Mutation_p.D410H|EXOSC9_ENST00000243498.5_Missense_Mutation_p.D393H			Q06265	EXOS9_HUMAN	exosome component 9	393					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						AATACTCTCAGATAGTGAAGA	0.244000													14	36					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179701673	179701673	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:179701673G>A	ENST00000420890.2	-	23	4390	c.4273C>T	c.(4273-4275)Cca>Tca	p.P1425S	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.P850S	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	850							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AAAGTCACTGGAGAACCTTCC	0.448000													27	7					0	0	1	0	0
FAM72D	728833	broad.mit.edu	37	1	143912363	143912363	+	Translation_Start_Site	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:143912363G>C	ENST00000400889.1	-	0	780					NM_207418.2	NP_997301.2	Q6L9T8	FA72D_HUMAN	family with sequence similarity 72, member D											lung(1)	1						CTACTATTTTGATTCCCCTAG	0.418000													41	80					0	0	1	0	0
GRPEL1	80273	broad.mit.edu	37	4	7065824	7065824	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:7065824C>A	ENST00000264954.4	-	2	353	c.189G>T	c.(187-189)gaG>gaT	p.E63D	GRPEL1_ENST00000514056.1_5'UTR	NM_025196.2	NP_079472.1	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial (E. coli)	63					protein folding|protein import into mitochondrial matrix	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						ACTTGACCTTCTCTTCCAGGA	0.552000													57	35					4.09171e-25	4.30743e-25	1	1	0
CADM3	57863	broad.mit.edu	37	1	159169587	159169587	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:159169587C>T	ENST00000368125.4	+	8	1156	c.999C>T	c.(997-999)atC>atT	p.I333I	CADM3_ENST00000368124.4_Silent_p.I367I|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000497636.1_3'UTR	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	333					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					ACGCCATCATCGGTGGGATCG	0.542000													73	75					0	0	1	0	0
ANKRD36B	57730	broad.mit.edu	37	2	98206122	98206122	+	RNA	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:98206122G>A	ENST00000443455.1	-	0	205							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		GGGGAAATGCGAAGCCATCCG	0.512000													30	47					0	0	1	0	0
USP4	7375	broad.mit.edu	37	3	49339954	49339954	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:49339954G>A	ENST00000351842.4	-	9	1017	c.1009C>T	c.(1009-1011)Cct>Tct	p.P337S	USP4_ENST00000488520.1_5'UTR|USP4_ENST00000265560.4_Missense_Mutation_p.P384S	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	384					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GAAAATTGAGGAGCAAAACGT	0.388000													49	34					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37388779	37388779	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:37388779G>C	ENST00000361924.2	+	21	6942	c.6568G>C	c.(6568-6570)Gag>Cag	p.E2190Q	GOLGA4_ENST00000356847.4_Missense_Mutation_p.E2205Q|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2190	GRIP.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GATGGGTCGTGAGACTAAGGT	0.373000													70	91					0	0	1	0	0
OPTC	26254	broad.mit.edu	37	1	203467966	203467966	+	Splice_Site	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:203467966G>C	ENST00000367222.2	+	4	644	c.528G>C	c.(526-528)ctG>ctC	p.L176L		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	176						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			TCAAAGGGCTGAGTATGTAAT	0.557000													45	55					0	0	1	0	0
POU3F3	5455	broad.mit.edu	37	2	105472929	105472929	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:105472929G>A	ENST00000361360.2	+	1	961	c.961G>A	c.(961-963)Gac>Aac	p.D321N	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	321	POU-specific.				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						GACGTCGGACGACCTGGAGCA	0.716000													34	34					0	0	1	0	0
SLA2	84174	broad.mit.edu	37	20	35243657	35243657	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr20:35243657G>C	ENST00000262866.4	-	6	925	c.503C>G	c.(502-504)tCa>tGa	p.S168*	SLA2_ENST00000360672.2_Nonsense_Mutation_p.S168*	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	168	SH2.				antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GGCCTGGAGTGAGGGGAAGGT	0.617000													32	71					0	0	1	0	0
GPA33	10223	broad.mit.edu	37	1	167038281	167038281	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:167038281G>C	ENST00000367868.3	-	3	636	c.293C>G	c.(292-294)tCc>tGc	p.S98C	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	98	Ig-like V-type.					integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GGAGGCATCGGACTGCTCAGC	0.502000													34	46					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848265	73848265	+	Silent	SNP	A	A	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:73848265A>G	ENST00000523207.1	+	3	1263	c.675A>G	c.(673-675)ggA>ggG	p.G225G		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	225					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACGAATTTGGACAACTCAATG	0.468000													60	73					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9303317	9303317	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:9303317G>A	ENST00000261336.2	-	34	4335	c.4307C>T	c.(4306-4308)tCc>tTc	p.S1436F	PZP_ENST00000381997.2_Missense_Mutation_p.S1222F	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AACCATGAAGGAAAAACTTAG	0.383000													34	41					0	0	1	0	0
RNF208	727800	broad.mit.edu	37	9	140115104	140115104	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:140115104G>C	ENST00000392827.1	-	2	729	c.561C>G	c.(559-561)ccC>ccG	p.P187P	RNF208_ENST00000391553.1_Silent_p.P187P			Q9H0X6	RN208_HUMAN	ring finger protein 208	187							zinc ion binding			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GGCGGCAGGTGGGGCAGGAGA	0.652000													14	42					0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43222884	43222884	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr21:43222884C>G	ENST00000422911.1	-	24	3203	c.3102G>C	c.(3100-3102)caG>caC	p.Q1034H	PRDM15_ENST00000447207.2_Missense_Mutation_p.Q977H|PRDM15_ENST00000398548.1_Missense_Mutation_p.Q1014H|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000538201.1_Missense_Mutation_p.Q997H|PRDM15_ENST00000269844.3_Missense_Mutation_p.Q1343H	NM_001282934.1	NP_001269863.1	P57071	PRD15_HUMAN	PR domain containing 15	1343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GCTGAATGCTCTGTACTGCGG	0.527000													116	145					0	0	1	0	0
CDKN1B	1027	broad.mit.edu	37	12	12870793	12870793	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:12870793C>G	ENST00000228872.4	+	1	736	c.20C>G	c.(19-21)tCt>tGt	p.S7C	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Missense_Mutation_p.S7C	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	7					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		GTGCGAGTGTCTAACGGGAGC	0.612000													61	85					0	0	1	0	0
CPEB4	80315	broad.mit.edu	37	5	173316947	173316947	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:173316947C>G	ENST00000265085.5	+	1	1665	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	CPEB4_ENST00000519835.1_Missense_Mutation_p.Q71E|CPEB4_ENST00000334035.5_Missense_Mutation_p.Q71E|CPEB4_ENST00000520867.1_Missense_Mutation_p.Q71E	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	71							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCATAACATTCAGGATGAGAT	0.498000													111	83					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65141996	65141996	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:65141996C>G	ENST00000358691.5	-	21	2798	c.2632G>C	c.(2632-2634)Gag>Cag	p.E878Q	HELZ_ENST00000580168.1_Missense_Mutation_p.E879Q	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TAGAAAAGCTCAGAGGTATAA	0.373000													20	35					0	0	1	0	0
RAD51	5888	broad.mit.edu	37	15	41023291	41023291	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:41023291G>A	ENST00000267868.3	+	10	1203	c.935G>A	c.(934-936)tGc>tAc	p.C312Y	RAD51_ENST00000557850.1_Missense_Mutation_p.C215Y|RAD51_ENST00000532743.1_Missense_Mutation_p.C313Y|RAD51_ENST00000530766.1_3'UTR|RAD51_ENST00000382643.3_Missense_Mutation_p.C313Y|RAD51_ENST00000423169.2_Silent_p.L271L	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	312					DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		ACCAGAATCTGCAAAATCTAC	0.423000								Homologous recombination					50	66					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656481	40656481	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:40656481C>A	ENST00000406785.2	-	2	1129	c.940G>T	c.(940-942)Gag>Tag	p.E314*	SLC8A1_ENST00000332839.4_Nonsense_Mutation_p.E314*|SLC8A1_ENST00000405269.1_Nonsense_Mutation_p.E314*|SLC8A1_ENST00000406391.2_Nonsense_Mutation_p.E314*|SLC8A1_ENST00000402441.1_Nonsense_Mutation_p.E314*|SLC8A1_ENST00000408028.2_Nonsense_Mutation_p.E314*|SLC8A1_ENST00000542024.1_Nonsense_Mutation_p.E314*|SLC8A1_ENST00000542756.1_Nonsense_Mutation_p.E314*|SLC8A1_ENST00000403092.1_Nonsense_Mutation_p.E314*|SLC8A1_ENST00000405901.3_Nonsense_Mutation_p.E314*			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1						cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGGTCCCTCTCATCCACCTCC	0.413000													83	129					1.46924e-35	1.5573e-35	1	1	0
C14orf105	55195	broad.mit.edu	37	14	57947337	57947337	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:57947337C>T	ENST00000216445.3	-	5	767	c.631G>A	c.(631-633)Gat>Aat	p.D211N	C14orf105_ENST00000422976.2_Missense_Mutation_p.D210N|C14orf105_ENST00000534126.1_Missense_Mutation_p.D210N	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	211										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						AAGATTTCATCAGGCAACATG	0.393000													59	89					0	0	1	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145281491	145281491	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:145281491G>A	ENST00000369340.3	+	5	865	c.421G>A	c.(421-423)Gag>Aag	p.E141K	NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.E141K|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.E141K|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.E141K			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	141	EGF-like 4.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GCAGAAGTGTGAGACTGATGT	0.552000													64	553					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143095470	143095470	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:143095470C>T	ENST00000367603.2	-	5	1148	c.406G>A	c.(406-408)Gag>Aag	p.E136K	HIVEP2_ENST00000367604.1_Missense_Mutation_p.E136K|HIVEP2_ENST00000012134.2_Missense_Mutation_p.E136K	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AATAAGTCCTCAGAGGCAACG	0.502000													77	71					0	0	1	0	0
CETN3	1070	broad.mit.edu	37	5	89701566	89701566	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:89701566C>G	ENST00000283122.3	-	3	328	c.204G>C	c.(202-204)aaG>aaC	p.K68N	CETN3_ENST00000522842.1_Missense_Mutation_p.K68N|CETN3_ENST00000522565.1_Missense_Mutation_p.K68N|CETN3_ENST00000522864.1_Missense_Mutation_p.K68N|CETN3_ENST00000522083.1_Missense_Mutation_p.K68N	NM_004365.2	NP_004356.2	O15182	CETN3_HUMAN	centrin, EF-hand protein, 3	68	EF-hand 2.				cell division|centrosome cycle|mitosis	centriole	calcium ion binding			lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		CTTTAAGAATCTTCAGTACAT	0.338000													38	35					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29554250	29554250	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:29554250C>T	ENST00000358273.4	+	19	2649	c.2266C>T	c.(2266-2268)Cag>Tag	p.Q756*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q756*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	756					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.Q756*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGCAGCACTTCAGAAAAGAGT	0.517000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			172	18					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64472798	64472798	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:64472798G>C	ENST00000355086.3	+	9	1749	c.1225G>C	c.(1225-1227)Gaa>Caa	p.E409Q	SRGAP1_ENST00000543397.1_Missense_Mutation_p.E369Q|SRGAP1_ENST00000357825.3_Missense_Mutation_p.E409Q|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	409					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TCGTTCCACAGAATCAGTGAA	0.468000													37	44					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23821065	23821065	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:23821065G>C	ENST00000354639.3	+	16	2388	c.1924G>C	c.(1924-1926)Gag>Cag	p.E642Q	STK31_ENST00000428484.1_Missense_Mutation_p.E642Q|STK31_ENST00000355870.3_Missense_Mutation_p.E665Q|STK31_ENST00000433467.2_Missense_Mutation_p.E665Q|STK31_ENST00000405627.3_3'UTR	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	665							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTCTCAAATTGAGAAAATAAA	0.299000													20	43					0	0	1	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819248	50819248	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:50819248G>A	ENST00000374115.3	+	1	902	c.462G>A	c.(460-462)ccG>ccA	p.P154P	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	154					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						ACGACGTGCCGCTGCTGATCG	0.637000													45	150					0	0	1	0	0
SGMS2	166929	broad.mit.edu	37	4	108824404	108824404	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:108824404C>T	ENST00000394684.4	+	5	1146	c.589C>T	c.(589-591)Cag>Tag	p.Q197*	SGMS2_ENST00000394686.3_Nonsense_Mutation_p.Q197*|RP11-286E11.1_ENST00000499098.1_RNA|SGMS2_ENST00000359079.4_Nonsense_Mutation_p.Q197*|RP11-286E11.1_ENST00000513071.1_RNA	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	197					sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	TGGAGACTCTCAGGCAAAAGT	0.408000													49	133					0	0	1	0	0
CMTM5	116173	broad.mit.edu	37	14	23847933	23847933	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:23847933C>T	ENST00000339180.4	+	3	551	c.335C>T	c.(334-336)tCa>tTa	p.S112L	CMTM5_ENST00000382809.2_Intron|CMTM5_ENST00000555731.1_Intron|CMTM5_ENST00000359320.3_Intron|CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000397227.3_Intron			Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	112	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		CTCTCCCACTCAGCAAAGGTC	0.632000													33	59					0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121426650	121426650	+	Missense_Mutation	SNP	G	G	A	rs139016696	byFrequency	TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:121426650G>A	ENST00000257555.6	+	2	567	c.341G>A	c.(340-342)cGt>cAt	p.R114H	HNF1A_ENST00000543427.1_5'UTR|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Missense_Mutation_p.R114H|HNF1A_ENST00000402929.1_Missense_Mutation_p.R114H|HNF1A_ENST00000400024.2_Missense_Mutation_p.R114H|HNF1A_ENST00000541395.1_Missense_Mutation_p.R114H			P20823	HNF1A_HUMAN	HNF1 homeobox A	114					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.R114fs*40(3)|p.R114H(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GACCCGTGGCGTGTGGCGAAG	0.627000									Hepatic Adenoma, Familial Clustering of				29	42					0	0	1	0	0
PRR4	11272	broad.mit.edu	37	12	10999683	10999683	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:10999683G>A	ENST00000540107.1	-	3	248	c.211C>T	c.(211-213)Cca>Tca	p.P71S	PRR4_ENST00000536668.1_5'UTR|PRR4_ENST00000544994.1_Missense_Mutation_p.P51L|PRR4_ENST00000228811.4_Silent_p.P128P			Q16378	PROL4_HUMAN	proline rich 4 (lacrimal)	0	Pro-rich.				visual perception	extracellular space				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						GTTGCTCCTGGGGATGTCTTG	0.493000													70	82					0	0	1	0	0
LMNA	4000	broad.mit.edu	37	1	156100507	156100507	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:156100507C>G	ENST00000368300.4	+	2	668	c.456C>G	c.(454-456)ctC>ctG	p.L152L	LMNA_ENST00000347559.2_Silent_p.L152L|LMNA_ENST00000448611.2_Silent_p.L40L|LMNA_ENST00000368297.1_Silent_p.L71L|LMNA_ENST00000368301.2_Silent_p.L152L|LMNA_ENST00000368299.3_Silent_p.L152L|LMNA_ENST00000361308.4_Silent_p.L152L|LMNA_ENST00000473598.2_Silent_p.L53L|LMNA_ENST00000392353.3_Silent_p.L71L	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	152	Coil 1B.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GCACTGCTCTCAGTGAGAAGC	0.637000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome		OREG0013866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	19					0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	84108173	84108173	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:84108173G>C	ENST00000369705.3	-	3	391	c.275C>G	c.(274-276)tCt>tGt	p.S92C	ME1_ENST00000543031.1_Missense_Mutation_p.S17C|ME1_ENST00000541327.1_Intron	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	92					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	CTCAATGTCAGATGTCAGCAC	0.363000													14	54					0	0	1	0	0
CEL	1056	broad.mit.edu	37	9	135947083	135947083	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:135947083G>A	ENST00000372080.4	+	11	2219	c.2203G>A	c.(2203-2205)Gag>Aag	p.E735K	CEL_ENST00000351304.7_Missense_Mutation_p.E666K	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	732	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GGGTGACTCTGAGGCTGCCCC	0.682000													27	30					0	0	1	0	0
ZNF436-AS1	148898	broad.mit.edu	37	1	23695890	23695890	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:23695890C>T	ENST00000335648.3	+	1	162	c.100C>T	c.(100-102)Cgt>Tgt	p.R34C	C1orf213_ENST00000454117.1_Missense_Mutation_p.R34C|C1orf213_ENST00000518821.1_Intron|C1orf213_ENST00000437367.2_Missense_Mutation_p.R34C|ZNF436_ENST00000314011.4_5'UTR|C1orf213_ENST00000458053.1_Intron																kidney(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		ACTAGATCGTCGTCTCCAAAA	0.572000													34	47					0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9987351	9987351	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:9987351G>A	ENST00000506583.1	-	6	607	c.390C>T	c.(388-390)ctC>ctT	p.L130L	SLC2A9_ENST00000264784.3_Silent_p.L159L|SLC2A9_ENST00000309065.3_Silent_p.L130L			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	159					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CTCCTGCCTGGAGCGAGCAGG	0.493000													20	67					0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12060829	12060829	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:12060829C>G	ENST00000482090.1	+	3	2354	c.1936C>G	c.(1936-1938)Caa>Gaa	p.Q646E	ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.Q664E|ZNF763_ENST00000591944.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CTCTTCTTTTCAAATACATGA	0.398000													26	27					0	0	1	0	0
KLHDC4	54758	broad.mit.edu	37	16	87741967	87741967	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:87741967G>A	ENST00000270583.5	-	11	1611	c.1553C>T	c.(1552-1554)gCg>gTg	p.A518V	KLHDC4_ENST00000353170.5_Missense_Mutation_p.A461V|KLHDC4_ENST00000347925.5_Missense_Mutation_p.A487V|KLHDC4_ENST00000566349.1_5'UTR	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	518										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TCAGTCCTCCGCACCGCTCTC	0.622000													59	90					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179435914	179435914	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:179435914C>G	ENST00000589042.1	-	326	75169	c.74945G>C	c.(74944-74946)aGa>aCa	p.R24982T	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16109T|TTN_ENST00000591111.1_Missense_Mutation_p.R23341T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22414T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16042T|TTN_ENST00000460472.2_Missense_Mutation_p.R15917T|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23341	Ig-like 123.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCAGAGACTCTAAATTCATA	0.443000													61	18					0	0	1	0	0
EXOSC4	54512	broad.mit.edu	37	8	145134907	145134907	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:145134907C>T	ENST00000316052.5	+	2	336	c.233C>T	c.(232-234)tCa>tTa	p.S78L	EXOSC4_ENST00000525936.1_Missense_Mutation_p.S78L	NM_019037.2	NP_061910.1	Q9NPD3	EXOS4_HUMAN	exosome component 4	78					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAATATAGTTCAGCGACCTTC	0.617000													104	145					0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140258011	140258011	+	Splice_Site	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:140258011C>T	ENST00000275884.6	-	10	2308	c.1891G>A	c.(1891-1893)Gaa>Aaa	p.E631K	DENND2A_ENST00000537639.1_Splice_Site_p.E631K|DENND2A_ENST00000492720.1_Splice_Site_p.E631K|DENND2A_ENST00000496613.1_Splice_Site_p.E631K			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	631	UDENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GAGAATGTTTCACTGTGGTTG	0.473000													29	32					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	30956842	30956842	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr20:30956842C>G	ENST00000375687.4	+	4	592	c.168C>G	c.(166-168)ctC>ctG	p.L56L	ASXL1_ENST00000375689.1_Silent_p.L52L|ASXL1_ENST00000470145.1_3'UTR|ASXL1_ENST00000542461.1_Silent_p.L55L|ASXL1_ENST00000306058.5_Silent_p.L51L	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	56					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TCGCATGCCTCAATGCTATGC	0.443000			"""F, N, Mis"""		"""MDS, CMML"""								59	73					0	0	1	0	0
LHX6	26468	broad.mit.edu	37	9	124991004	124991004	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:124991004C>T	ENST00000394319.4	-	1	120	c.16G>A	c.(16-18)Gag>Aag	p.E6K	LHX6_ENST00000340587.3_Missense_Mutation_p.E6K|LHX6_ENST00000559529.1_5'UTR	NM_014368.4	NP_055183.2	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	278					cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						GCGGCGTTCTCATGCTTCCAG	0.761000													8	4					0	0	1	0	0
TMEM54	113452	broad.mit.edu	37	1	33363913	33363913	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:33363913C>G	ENST00000373463.3	-	2	143	c.24G>C	c.(22-24)ctG>ctC	p.L8L	TMEM54_ENST00000475208.1_5'UTR|TMEM54_ENST00000329151.5_Silent_p.L8L	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	8						integral to membrane		p.L8L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CGCCCACACTCAGGCCTCCTG	0.617000													44	55					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587708	43587708	+	RNA	SNP	A	A	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:43587708A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							AACAACCACCATCTCCAAATC	0.348000													4	98					0	0	1	0	0
PAIP1	10605	broad.mit.edu	37	5	43543211	43543211	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:43543211G>C	ENST00000306846.3	-	4	861	c.629C>G	c.(628-630)tCt>tGt	p.S210C	PAIP1_ENST00000338972.4_Missense_Mutation_p.S98C|PAIP1_ENST00000514514.1_Missense_Mutation_p.S131C|PAIP1_ENST00000436644.2_Missense_Mutation_p.S131C	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	210	MIF4G.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					ATTTGGGATAGATGTGGCCTT	0.358000													22	17					0	0	1	0	0
ALG9	79796	broad.mit.edu	37	11	111747287	111747287	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:111747287G>C	ENST00000524880.1	-	4	902	c.610C>G	c.(610-612)Caa>Gaa	p.Q204E	ALG9_ENST00000527377.1_5'UTR|FDXACB1_ENST00000260257.4_Missense_Mutation_p.Q204E|FDXACB1_ENST00000542429.1_Missense_Mutation_p.Q55E			Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	0					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		ATTCTGGGTTGAGAACCTTCA	0.413000													52	19					0	0	1	0	0
COG1	9382	broad.mit.edu	37	17	71197805	71197805	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:71197805C>G	ENST00000299886.4	+	7	1919	c.1839C>G	c.(1837-1839)ttC>ttG	p.F613L		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	613					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			CAGTTCTTTTCATGGCCAGAC	0.547000													57	6					0	0	1	0	0
PSAT1	29968	broad.mit.edu	37	9	80912185	80912185	+	Splice_Site	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:80912185C>G	ENST00000376588.3	+	1	127	c.59C>G	c.(58-60)tCa>tGa	p.S20*	PSAT1_ENST00000347159.2_Splice_Site_p.S20*	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	20					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	CTGCCGCACTCAGTAAGTCCC	0.697000													14	14					0	0	1	0	0
HOOK1	51361	broad.mit.edu	37	1	60297859	60297859	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:60297859C>T	ENST00000371208.3	+	4	504	c.247C>T	c.(247-249)Caa>Taa	p.Q83*	HOOK1_ENST00000395561.2_Nonsense_Mutation_p.Q41*|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	83	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GAAGGTCCTTCAAGGAATTAT	0.289000													56	85					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108163567	108163567	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:108163567C>G	ENST00000273353.3	-	23	2691	c.2635G>C	c.(2635-2637)Gag>Cag	p.E879Q		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	879						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTCTGAAACTCTGATTTCTCC	0.438000													97	78					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12123600	12123600	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:12123600C>T	ENST00000379388.2	+	4	3904	c.3572C>T	c.(3571-3573)tCt>tTt	p.S1191F		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1191					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CGGGACGGGTCTCATCCTCAC	0.512000													3	30					0	0	1	0	0
UBAP2	55833	broad.mit.edu	37	9	33927842	33927842	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:33927842G>A	ENST00000379238.1	-	20	2441	c.2324C>T	c.(2323-2325)gCg>gTg	p.A775V	UBAP2_ENST00000379239.4_Missense_Mutation_p.A508V|UBAP2_ENST00000539807.1_Missense_Mutation_p.A530V|UBAP2_ENST00000379235.1_Missense_Mutation_p.A14V|UBAP2_ENST00000449054.1_Missense_Mutation_p.A775V|UBAP2_ENST00000360802.1_Missense_Mutation_p.A775V			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	775										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GGATGCACTCGCGGGGGTCCC	0.642000													84	106					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124398990	124398990	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:124398990C>T	ENST00000409039.3	+	60	10138	c.10113C>T	c.(10111-10113)gaC>gaT	p.D3371D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3371					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGTTCCGTGACGAGATGGTCA	0.597000													48	55					0	0	1	0	0
WISP1	8840	broad.mit.edu	37	8	134239872	134239872	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:134239872C>T	ENST00000250160.6	+	5	1129	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	WISP1_ENST00000377863.2_Silent_p.F169F|WISP1_ENST00000517423.1_3'UTR|WISP1_ENST00000220856.6_Silent_p.F254F|WISP1_ENST00000519433.1_Silent_p.F96F	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	341	CTCK.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			ATGCCTGCTTCTGTAACCTGA	0.502000													61	59					0	0	1	0	0
CENPN	55839	broad.mit.edu	37	16	81053723	81053723	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:81053723G>C	ENST00000305850.5	+	6	1163	c.373G>C	c.(373-375)Gaa>Caa	p.E125Q	RP11-303E16.3_ENST00000562315.1_RNA|CENPN_ENST00000428963.2_Missense_Mutation_p.E125Q|CENPN_ENST00000393335.3_Missense_Mutation_p.E125Q|CMC2_ENST00000565914.1_Intron|CENPN_ENST00000299572.5_Missense_Mutation_p.E125Q|CENPN_ENST00000569461.1_3'UTR|CENPN_ENST00000439957.3_Missense_Mutation_p.E105Q	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	125					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|large_intestine(5)|lung(4)	10						CAGCTTCAGAGAAACTGAGGA	0.423000													30	33					0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4016668	4016668	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:4016668C>G	ENST00000294016.3	-	11	3708	c.3170G>C	c.(3169-3171)gGa>gCa	p.G1057A		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1057					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GATCACCCCTCCGCTGTCATG	0.592000													156	35					0	0	1	0	0
IPP	3652	broad.mit.edu	37	1	46212053	46212053	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:46212053C>T	ENST00000396478.3	-	2	133	c.31G>A	c.(31-33)Gat>Aat	p.D11N		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	11						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					AAAGGACTATCAGCAGCCTTG	0.408000													48	118					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25981266	25981266	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:25981266G>A	ENST00000356865.6	-	3	788	c.677C>T	c.(676-678)aCg>aTg	p.T226M		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	226					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCTGGTGAACGTCAAAGGATT	0.507000													24	43					0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116045895	116045895	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:116045895G>C	ENST00000603594.1	+	11	1516	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q	VWA2_ENST00000392982.3_Missense_Mutation_p.E399Q	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	399	VWFA 2.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GCCTGTGGGGGAGTACCAGGA	0.682000													67	136					0	0	1	0	0
GNL1	2794	broad.mit.edu	37	6	30514513	30514513	+	Silent	SNP	G	G	A	rs5875262		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:30514513G>A	ENST00000376621.3	-	11	2512	c.1542C>T	c.(1540-1542)ctC>ctT	p.L514L		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	514				L -> V (in Ref. 1; AAA66492).	response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AACACAGGCTGAGGCGGCCGT	0.572000													28	83					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115750948	115750948	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:115750948C>G	ENST00000264363.2	-	13	3175	c.2497G>C	c.(2497-2499)Gag>Cag	p.E833Q		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	833	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATTATTACCTCTGGATCCATA	0.343000													32	13					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17953847	17953847	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:17953847C>T	ENST00000458235.1	-	5	654	c.555G>A	c.(553-555)ctG>ctA	p.L185L	JAK3_ENST00000534444.1_Silent_p.L185L|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000527670.1_Silent_p.L185L	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	185	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TGACAGTCTTCAGCAGCTCTC	0.672000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								42	28					0	0	1	0	0
RNF182	221687	broad.mit.edu	37	6	13977385	13977385	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:13977385C>G	ENST00000488300.1	+	3	558	c.35C>G	c.(34-36)tCt>tGt	p.S12C	RNF182_ENST00000537388.1_Missense_Mutation_p.S12C|RNF182_ENST00000537663.1_Missense_Mutation_p.S12C|RNF182_ENST00000544682.1_Missense_Mutation_p.S12C	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	12						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			ACTGCGGAGTCTCAGGCCTCT	0.468000													45	100					0	0	1	0	0
TESK2	10420	broad.mit.edu	37	1	45811074	45811074	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:45811074G>C	ENST00000372086.3	-	11	1554	c.1154C>G	c.(1153-1155)cCa>cGa	p.P385R	TESK2_ENST00000538496.1_Missense_Mutation_p.P302R|TESK2_ENST00000341771.6_Missense_Mutation_p.P356R|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Missense_Mutation_p.P356R	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	385					actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					CCGGTAGTATGGGTCCAAGAC	0.557000													55	48					0	0	1	0	0
SNX7	51375	broad.mit.edu	37	1	99150470	99150470	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:99150470C>G	ENST00000370189.5	+	3	382	c.18C>G	c.(16-18)ttC>ttG	p.F6L	SNX7_ENST00000529992.1_Missense_Mutation_p.F70L|SNX7_ENST00000306121.3_Missense_Mutation_p.F70L			Q9UNH6	SNX7_HUMAN	sorting nexin 7	6					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		TGAACTCCTTCAGCCCTATGA	0.338000													50	85					0	0	1	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28734064	28734064	+	RNA	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:28734064G>A	ENST00000550043.1	+	0	469																											GATATTGAGAGAAGGAAGGAA	0.438000													54	88					0	0	1	0	0
TNNT1	7138	broad.mit.edu	37	19	55645272	55645272	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:55645272G>A	ENST00000588981.1	-	13	978	c.774C>T	c.(772-774)atC>atT	p.I258I	TNNT1_ENST00000585321.2_Silent_p.I172I|TNNT1_ENST00000587465.2_Silent_p.I172I|TNNT1_ENST00000291901.8_Silent_p.I242I|TNNT1_ENST00000536926.1_Silent_p.I231I|TNNT1_ENST00000356783.5_Silent_p.I231I|TNNT1_ENST00000588426.1_Silent_p.I139I|TNNT1_ENST00000587758.1_Silent_p.I231I	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	258					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		GGGCGTGGCTGATGCGGTTGT	0.627000													50	30					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	49050910	49050910	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr13:49050910G>T	ENST00000267163.4	+	25	2732	c.2594G>T	c.(2593-2595)gGa>gTa	p.G865V	RB1_ENST00000484879.1_3'UTR	NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	865	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGTGCTGAAGGAAGCAACCCT	0.383000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			46	78					6.81593e-30	7.19976e-30	1	1	0
LPIN2	9663	broad.mit.edu	37	18	2937747	2937747	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr18:2937747C>G	ENST00000261596.4	-	7	1349	c.1111G>C	c.(1111-1113)Gag>Cag	p.E371Q		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	371					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GAGGGCGCCTCCGCTAAGGCT	0.483000													45	74					0	0	1	0	0
PLAUR	5329	broad.mit.edu	37	19	44156432	44156432	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:44156432G>C	ENST00000221264.4	-	5	990	c.564C>G	c.(562-564)ttC>ttG	p.F188L	PLAUR_ENST00000339082.3_Missense_Mutation_p.F233L|PLAUR_ENST00000340093.3_Missense_Mutation_p.F233L|PLAUR_ENST00000601723.1_Intron	NM_001005377.2	NP_001005377.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	233	UPAR/Ly6 2.				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	AGTCAATGAGGAAAGTCTCTT	0.572000											OREG0025532	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	62					0	0	1	0	0
SLC9A7P1	121456	broad.mit.edu	37	12	98849663	98849663	+	RNA	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:98849663C>G	ENST00000554295.1	-	0	1260					NR_033801.1																						TTCTCTGCCTCAAAGAGCTGC	0.458000													42	63					0	0	1	0	0
HPSE	10855	broad.mit.edu	37	4	84223345	84223345	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:84223345C>T	ENST00000405413.2	-	11	1419	c.1283G>A	c.(1282-1284)aGa>aAa	p.R428K	HPSE_ENST00000311412.5_Missense_Mutation_p.R428K|HPSE_ENST00000512196.1_Missense_Mutation_p.R354K|HPSE_ENST00000513463.1_Missense_Mutation_p.R370K	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	428					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	AAGCTTCCTTCTCTTTGAACC	0.423000													31	61					0	0	1	0	0
DHTKD1	55526	broad.mit.edu	37	10	12139993	12139993	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:12139993C>G	ENST00000263035.4	+	8	1731	c.1669C>G	c.(1669-1671)Cag>Gag	p.Q557E		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	557					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GACACATGTTCAGGTGGGCAG	0.517000													42	58					0	0	1	0	0
NDRG1	10397	broad.mit.edu	37	8	134266798	134266798	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:134266798G>C	ENST00000414097.2	-	9	1445	c.578C>G	c.(577-579)tCc>tGc	p.S193C	NDRG1_ENST00000522476.1_Missense_Mutation_p.S127C|NDRG1_ENST00000537882.1_Missense_Mutation_p.S112C|NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000323851.7_Missense_Mutation_p.S193C|NDRG1_ENST00000354944.5_Missense_Mutation_p.S123C|NDRG1_ENST00000518066.1_Intron	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	193					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			AAAAAGGTGGGACACCACCAT	0.537000			T	ERG	prostate								24	35					0	0	1	0	0
PDLIM5	10611	broad.mit.edu	37	4	95583676	95583676	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:95583676C>T	ENST00000317968.4	+	12	1825	c.1689C>T	c.(1687-1689)tgC>tgT	p.C563C	PDLIM5_ENST00000437932.1_Silent_p.C454C|PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000542407.1_Silent_p.C441C|PDLIM5_ENST00000514743.1_Silent_p.C592C	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	563	LIM zinc-binding 3.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		ATGACACTTGCTTTGTATGCT	0.408000													57	27					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32740370	32740370	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:32740370G>C	ENST00000421745.2	+	55	11016	c.10882G>C	c.(10882-10884)Gac>Cac	p.D3628H		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3628					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACAATTACTAGACTCAGGTTT	0.418000													38	47					0	0	1	0	0
CYTH2	9266	broad.mit.edu	37	19	48973714	48973714	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:48973714G>A	ENST00000427476.1	+	2	424	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	CYTH2_ENST00000452733.2_Missense_Mutation_p.E42K|CTC-273B12.7_ENST00000595676.1_Missense_Mutation_p.E26K	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN	cytohesin 2	42					actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GGAGCTCAGTGAAGCCATGAG	0.677000													18	80					0	0	1	0	0
ZNF623	9831	broad.mit.edu	37	8	144732634	144732634	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:144732634C>G	ENST00000501748.2	+	1	681	c.592C>G	c.(592-594)Cag>Gag	p.Q198E	ZNF623_ENST00000526926.1_Missense_Mutation_p.Q158E|ZNF623_ENST00000458270.2_Missense_Mutation_p.Q158E	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CATTGAGCATCAGCGCGTTCA	0.473000													57	62					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14273746	14273746	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:14273746C>G	ENST00000340736.6	-	6	1179	c.882G>C	c.(880-882)caG>caC	p.Q294H	CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.Q289H	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	294	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGGGGTTCAGCTGGCTCACCA	0.632000													11	36					0	0	1	0	0
CYBB	1536	broad.mit.edu	37	X	37664367	37664367	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chrX:37664367C>T	ENST00000378588.4	+	10	1327	c.1260C>T	c.(1258-1260)ctC>ctT	p.L420L	TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Silent_p.L153L|CYBB_ENST00000545017.1_Silent_p.L388L	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	420			L -> P (in XCGD).		electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						CATCCATTCTCAAGTCAGTCT	0.473000													39	6					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466732	56466732	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:56466732C>T	ENST00000291971.3	+	3	1379	c.1308C>T	c.(1306-1308)ccC>ccT	p.P436P	NLRP8_ENST00000590542.1_Silent_p.P436P	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	436	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GCTTGTTTCCCACCAGAGCTG	0.488000													65	42					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23544674	23544674	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:23544674C>G	ENST00000300619.7	-	4	1312	c.1107G>C	c.(1105-1107)aaG>aaC	p.K369N	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.K337N	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	369						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TATGAGTTATCTTATGATTAG	0.358000													15	45					0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23728769	23728769	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:23728769C>T	ENST00000546136.1	-	9	1131	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	SOX5_ENST00000541536.1_Intron|SOX5_ENST00000451604.2_Missense_Mutation_p.E390K|SOX5_ENST00000545921.1_Missense_Mutation_p.E380K|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000396007.2_Missense_Mutation_p.E4K|SOX5_ENST00000537393.1_Missense_Mutation_p.E355K|SOX5_ENST00000309359.1_Missense_Mutation_p.E377K			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	390					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TGTGCCACTTCATCCTGCAAT	0.443000													40	52					0	0	1	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356882	37356882	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr20:37356882C>A	ENST00000217420.1	+	2	1441	c.1178C>A	c.(1177-1179)tCc>tAc	p.S393Y		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	393					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	p.S393C(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCGCTGTTGTCCTATCCTCTG	0.627000													21	49					2.44723e-14	2.51634e-14	1	1	0
TAS2R50	259296	broad.mit.edu	37	12	11138715	11138715	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:11138715C>T	ENST00000506868.1	-	1	796	c.745G>A	c.(745-747)Gtt>Att	p.V249I	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	249					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						GGACTCCAAACCGAAACGATT	0.438000													40	58					0	0	1	0	0
MIF4GD	57409	broad.mit.edu	37	17	73262901	73262901	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:73262901C>G	ENST00000577542.1	-	7	974	c.712G>C	c.(712-714)Gag>Cag	p.E238Q	MIF4GD_ENST00000579119.1_Missense_Mutation_p.E226Q|MIF4GD_ENST00000245551.5_Missense_Mutation_p.E231Q|MIF4GD_ENST00000580571.1_Missense_Mutation_p.E145Q|MIF4GD_ENST00000325102.8_Missense_Mutation_p.E197Q|MIF4GD_ENST00000579297.1_Missense_Mutation_p.E238Q|MIF4GD_ENST00000578305.1_3'UTR			A9UHW6	MI4GD_HUMAN	MIF4G domain containing	197					regulation of translation|RNA metabolic process	cytoplasm|nucleus	protein C-terminus binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			TCAATGATCTCCAGCAGCAGC	0.592000													106	7					0	0	1	0	0
ANKS1A	23294	broad.mit.edu	37	6	34985275	34985275	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:34985275G>C	ENST00000360359.3	+	11	1587	c.1449G>C	c.(1447-1449)cgG>cgC	p.R483R	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	483						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCAGCAGCCGGAGCCAGGACT	0.592000													70	54					0	0	1	0	0
BARHL1	56751	broad.mit.edu	37	9	135464731	135464731	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:135464731C>G	ENST00000263610.2	+	3	1419	c.806C>G	c.(805-807)tCc>tGc	p.S269C	BARHL1_ENST00000542090.1_Missense_Mutation_p.S269C	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	269						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		AGTCTGGTTTCCAACCTGGAC	0.672000													90	99					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885464	24885464	+	Silent	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:24885464C>A	ENST00000382554.3	+	9	4827	c.4509C>A	c.(4507-4509)ggC>ggA	p.G1503G		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1503					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AACTGTCTGGCTCCTCACCGT	0.552000													3	46					1	1	1	1	0
EFCAB5	374786	broad.mit.edu	37	17	28296332	28296332	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:28296332G>A	ENST00000394835.3	+	4	906	c.714G>A	c.(712-714)atG>atA	p.M238I	EFCAB5_ENST00000394832.2_Missense_Mutation_p.M238I|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000378738.3_Missense_Mutation_p.M238I|EFCAB5_ENST00000534836.2_Intron|EFCAB5_ENST00000536908.2_Missense_Mutation_p.M182I|EFCAB5_ENST00000320856.5_Missense_Mutation_p.M238I	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	238							calcium ion binding	p.M238I(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AGAGGTTGATGAAAGAAGTCA	0.358000													44	3					0	0	1	0	0
SLC7A1	6541	broad.mit.edu	37	13	30091761	30091761	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr13:30091761C>G	ENST00000380752.5	-	10	1845	c.1459G>C	c.(1459-1461)Gag>Cag	p.E487Q	SLC7A1_ENST00000473577.1_5'UTR	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	487					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TTGGAAGGCTCCATGTTTTTG	0.463000													82	79					0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35485180	35485180	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:35485180G>A	ENST00000357182.4	-	4	429	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	ZMYM6_ENST00000487874.1_Nonsense_Mutation_p.Q68*|ZMYM6_ENST00000373340.2_Nonsense_Mutation_p.Q68*|ZMYM6_ENST00000317538.5_Nonsense_Mutation_p.Q68*|ZMYM6_ENST00000373333.1_Nonsense_Mutation_p.Q68*|ZMYM6_ENST00000493328.1_Intron	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	68					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AAAGAAAGCTGAAAGCCTGGG	0.368000													22	39					0	0	1	0	0
ALPI	248	broad.mit.edu	37	2	233321358	233321358	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:233321358G>C	ENST00000295463.3	+	3	330	c.253G>C	c.(253-255)Gag>Cag	p.E85Q		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	85					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ACTGGGGCCTGAGACGCCCCT	0.607000													13	1					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167631499	167631499	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:167631499G>A	ENST00000519204.1	+	18	3452	c.3334G>A	c.(3334-3336)Gaa>Aaa	p.E1112K	TENM2_ENST00000518659.1_Missense_Mutation_p.E1233K|TENM2_ENST00000520394.1_Missense_Mutation_p.E1001K|TENM2_ENST00000403607.2_Missense_Mutation_p.E1057K|TENM2_ENST00000545108.1_Missense_Mutation_p.E1233K					teneurin transmembrane protein 2																		CGGCCTTGCTGAAGGCAACAA	0.577000													18	42					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46916251	46916251	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:46916251G>A	ENST00000378623.1	-	12	1671	c.1429C>T	c.(1429-1431)Cac>Tac	p.H477Y		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	477					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TCGCGGCGGTGGTGGAAATCA	0.582000													81	9					0	0	1	0	0
KPNA4	3840	broad.mit.edu	37	3	160253311	160253311	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:160253311G>A	ENST00000334256.4	-	5	582	c.277C>T	c.(277-279)Caa>Taa	p.Q93*		NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	karyopherin alpha 4 (importin alpha 3)	93					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			CTAGCAGCTTGAACTGCACTT	0.303000													31	22					0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142229062	142229062	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:142229062C>T	ENST00000519067.1	-	4	827	c.524G>A	c.(523-525)tGg>tAg	p.W175*	SLC45A4_ENST00000024061.3_Nonsense_Mutation_p.W175*|SLC45A4_ENST00000517878.1_Nonsense_Mutation_p.W226*|SLC45A4_ENST00000433583.2_Nonsense_Mutation_p.W168*			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	226					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGTCCGGAACCAGCTGCCCAG	0.647000													89	89					0	0	1	0	0
DDX18	8886	broad.mit.edu	37	2	118577326	118577326	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:118577326G>A	ENST00000263239.2	+	3	600	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	158							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGATAATGATGAAGATGAGAG	0.413000											OREG0003814	type=REGULATORY REGION|Gene=DDX18|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	17	45					0	0	1	0	0
NTSR2	23620	broad.mit.edu	37	2	11802148	11802148	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:11802148C>T	ENST00000306928.5	-	2	877	c.843G>A	c.(841-843)gtG>gtA	p.V281V		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	281					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)	CTTTATGTCTCACCAGGCTGA	0.582000													68	81					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153907347	153907347	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:153907347G>A	ENST00000361217.4	-	18	3080	c.2662C>T	c.(2662-2664)Cgc>Tgc	p.R888C		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	888	Gln-rich.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAGGGCTGGCGGAACTGAGCA	0.622000													4	175					0	0	1	0	0
RAET1E	135250	broad.mit.edu	37	6	150210659	150210659	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:150210659G>C	ENST00000532335.1	-	4	793	c.447C>G	c.(445-447)ctC>ctG	p.L149L	RAET1E_ENST00000529948.1_Silent_p.L149L|RAET1E_ENST00000367363.3_Silent_p.L113L|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000357183.4_Silent_p.L149L|RAET1E-AS1_ENST00000605899.1_RNA	NM_001243328.1	NP_001230257.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	149	MHC class I alpha-2 like.				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TTGCGTCAAAGAGGAGGGATT	0.468000													84	69					0	0	1	0	0
TOP3A	7156	broad.mit.edu	37	17	18188594	18188594	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:18188594G>C	ENST00000321105.5	-	15	1953	c.1739C>G	c.(1738-1740)tCt>tGt	p.S580C	TOP3A_ENST00000540524.1_Missense_Mutation_p.S110C|TOP3A_ENST00000542570.1_Missense_Mutation_p.S485C	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	580					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GTCAGGCTTAGACATTTCATA	0.522000													42	8					0	0	1	0	0
SEP15	9403	broad.mit.edu	37	1	87379771	87379771	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:87379771C>G	ENST00000331835.5	-	1	277	c.15G>C	c.(13-15)ccG>ccC	p.P5P	SEP15_ENST00000469566.1_Intron|SEP15_ENST00000370554.1_Silent_p.P5P|SEP15_ENST00000401030.3_Silent_p.P5P	NM_004261.3	NP_004252.2	O60613	SEP15_HUMAN							'de novo' posttranslational protein folding	endoplasmic reticulum lumen	selenium binding						Lung NSC(277;0.153)		all cancers(265;0.00744)|Epithelial(280;0.0333)		GACACCCACTCGGCCCAGCCG	0.587000													53	74					0	0	1	0	0
ZNF781	163115	broad.mit.edu	37	19	38161042	38161042	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:38161042C>G	ENST00000358582.4	-	4	756	c.8G>C	c.(7-9)aGa>aCa	p.R3T	ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000590008.1_Missense_Mutation_p.R3T	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						CATTGCATTTCTTTGCATTAA	0.343000													27	81					0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5806484	5806484	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:5806484G>A	ENST00000382674.2	+	17	2661	c.2477G>A	c.(2476-2478)cGg>cAg	p.R826Q	EVC_ENST00000264956.6_Missense_Mutation_p.R826Q			P57679	EVC_HUMAN	Ellis van Creveld syndrome	826					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TACAAACTGCGGAAAAAGCAA	0.557000													55	40					0	0	1	0	0
SUN1	23353	broad.mit.edu	37	7	872210	872210	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:872210G>C	ENST00000456758.2	+	4	223	c.223G>C	c.(223-225)Gag>Cag	p.E75Q	SUN1_ENST00000401592.1_Missense_Mutation_p.E17Q|SUN1_ENST00000457378.2_Missense_Mutation_p.E38Q|SUN1_ENST00000403868.1_Missense_Mutation_p.E17Q|SUN1_ENST00000389574.3_Intron|SUN1_ENST00000425407.2_5'UTR|SUN1_ENST00000452783.2_Missense_Mutation_p.E17Q|SUN1_ENST00000405266.1_Missense_Mutation_p.E17Q			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	17	LMNA-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTGTGTGCCGGAGAACACGGG	0.562000													9	16					0	0	1	0	0
RNF215	200312	broad.mit.edu	37	22	30780387	30780387	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr22:30780387C>G	ENST00000382363.3	-	5	759	c.685G>C	c.(685-687)Gat>Cat	p.D229H		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	229						integral to membrane	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CCATAGCCATCCTTGGAGAGG	0.602000													52	79					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66459046	66459046	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:66459046C>G	ENST00000404260.3	+	29	4356	c.4048C>G	c.(4048-4050)Cgg>Ggg	p.R1350G	MAST4_ENST00000403666.1_Missense_Mutation_p.R1158G|MAST4_ENST00000261569.7_Missense_Mutation_p.R1153G|MAST4_ENST00000405643.1_Missense_Mutation_p.R1168G|MAST4_ENST00000403625.2_Missense_Mutation_p.R1347G			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1350						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CGGGCACATCCGGCCCAGCAC	0.632000													66	255					0	0	1	0	0
ZFR2	23217	broad.mit.edu	37	19	3834946	3834946	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:3834946C>T	ENST00000262961.4	-	2	99	c.89G>A	c.(88-90)gGg>gAg	p.G30E	ZFR2_ENST00000591965.1_5'UTR	NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	30						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		ATAGCTGGCCCCCACAGTGGG	0.637000													11	5					0	0	1	0	0
SFN	2810	broad.mit.edu	37	1	27189727	27189727	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:27189727G>A	ENST00000339276.4	+	1	95	c.24G>A	c.(22-24)caG>caA	p.Q8Q		NM_006142.3	NP_006133.1	P31947	1433S_HUMAN	stratifin	8					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		GTCTGATCCAGAAGGCCAAGC	0.627000													76	85					0	0	1	0	0
CTTN	2017	broad.mit.edu	37	11	70265929	70265929	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:70265929C>G	ENST00000301843.8	+	9	852	c.646C>G	c.(646-648)Caa>Gaa	p.Q216E	CTTN_ENST00000376561.3_Missense_Mutation_p.Q216E|CTTN_ENST00000346329.3_Missense_Mutation_p.Q216E	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	216						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		CTTTGAGTATCAAGGCAAAAC	0.473000													137	35					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30791874	30791874	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr18:30791874G>C	ENST00000383096.3	-	20	2406	c.2224C>G	c.(2224-2226)Ctt>Gtt	p.L742V	CCDC178_ENST00000300227.8_Missense_Mutation_p.L704V|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Missense_Mutation_p.L742V|CCDC178_ENST00000403303.1_Missense_Mutation_p.L742V|CCDC178_ENST00000583930.1_Missense_Mutation_p.L742V|CCDC178_ENST00000579947.1_Missense_Mutation_p.L742V|CCDC178_ENST00000406524.2_Missense_Mutation_p.L742V					coiled-coil domain containing 178																		GTATCTTGAAGAGTTTTTTGT	0.328000													22	29					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41489048	41489048	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr22:41489048A>C	ENST00000263253.7	+	1	1259	c.40A>C	c.(40-42)Aag>Cag	p.K14Q		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	14	Interaction with ALX1.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GCCTTCAGCCAAGCGGCCTAA	0.547000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				128	151					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20766683	20766683	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:20766683G>C	ENST00000404938.2	+	22	3298	c.2646G>C	c.(2644-2646)gaG>gaC	p.E882D	ABCB5_ENST00000258738.6_Missense_Mutation_p.E437D	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	437					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AAGCTTTGGAGAATATACGTA	0.328000													33	48					0	0	1	0	0
CEMP1	752014	broad.mit.edu	37	16	2580759	2580759	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:2580759G>A	ENST00000382350.1	-	1	661	c.316C>T	c.(316-318)Cag>Tag	p.Q106*	AMDHD2_ENST00000565570.1_3'UTR|AMDHD2_ENST00000302956.4_3'UTR|AMDHD2_ENST00000413459.3_Silent_p.*595*|CEMP1_ENST00000565480.1_Intron|CEMP1_ENST00000567119.1_Nonsense_Mutation_p.Q106*			Q6PRD7	CEMP1_HUMAN	cementum protein 1	106						cytoplasm				lung(1)|skin(1)	2						GGCCTCGCCTGAGGGAGGGCC	0.632000													17	4					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64662883	64662883	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:64662883G>T	ENST00000421419.2	-	40	5579	c.5465C>A	c.(5464-5466)tCc>tAc	p.S1822Y	ATG2A_ENST00000377264.3_Missense_Mutation_p.S1820Y			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1820							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGCTGCCGGGGACAGGATGTC	0.701000													7	9					1.26484e-09	1.28561e-09	1	1	0
EXOC1	55763	broad.mit.edu	37	4	56750054	56750054	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:56750054G>C	ENST00000381295.2	+	10	1638	c.1290G>C	c.(1288-1290)aaG>aaC	p.K430N	EXOC1_ENST00000346134.7_Missense_Mutation_p.K430N|EXOC1_ENST00000349598.6_Missense_Mutation_p.K430N	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	430					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AAGTTGCAAAGATCAAGATGA	0.284000													20	21					0	0	1	0	0
SDC3	9672	broad.mit.edu	37	1	31347175	31347175	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:31347175C>T	ENST00000336798.7	-	2	2449	c.957G>A	c.(955-957)aaG>aaA	p.K319K	SDC3_ENST00000339394.6_Silent_p.K377K			O75056	SDC3_HUMAN	syndecan 3	377						integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGATACTCTTCTGAGGCA	0.652000													38	46					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2110794	2110794	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:2110794C>T	ENST00000219476.3	+	11	1729	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	TSC2_ENST00000439673.2_Missense_Mutation_p.R330W|TSC2_ENST00000353929.4_Missense_Mutation_p.R367W|TSC2_ENST00000568454.1_Missense_Mutation_p.R378W|TSC2_ENST00000350773.4_Missense_Mutation_p.R367W|TSC2_ENST00000401874.2_Missense_Mutation_p.R367W|TSC2_ENST00000382538.6_Missense_Mutation_p.R318W	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	367	Required for interaction with TSC1.		R -> Q (in dbSNP:rs1800725).		cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CATCATCGAACGGCTCCTTCA	0.602000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				47	8					0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56899426	56899426	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:56899426C>G	ENST00000438926.2	+	1	308	c.279C>G	c.(277-279)ctC>ctG	p.L93L	SLC12A3_ENST00000262502.5_Silent_p.L93L|SLC12A3_ENST00000566786.1_Silent_p.L93L|SLC12A3_ENST00000563236.1_Silent_p.L93L	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	93					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	ACTCCTTCCTCAAGGTAAGTG	0.582000													32	38					0	0	1	0	0
MAN1B1	11253	broad.mit.edu	37	9	140003028	140003028	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:140003028C>G	ENST00000371589.4	+	13	2158	c.2085C>G	c.(2083-2085)atC>atG	p.I695M	MAN1B1_ENST00000474902.1_Missense_Mutation_p.I398M|MAN1B1_ENST00000540391.1_3'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	695					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		CTCTGCCTATCTGGACCCCTG	0.597000													121	153					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29295647	29295649	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:29295647_29295649delTCC	ENST00000331664.5	-	1	1478_1480	c.1479_1481delGGA	c.(1477-1482)gaggaa>gaa	p.493_494EE>E		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	493					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATTTTGTCTTCCTCCTCCTCCT	0.542													7	264	---	---	---	---					
KDM3A	55818	broad.mit.edu	37	2	86693893	86693894	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:86693893_86693894insA	ENST00000409556.1	+	11	1771_1772	c.1406_1407insA	c.(1405-1410)ggaaaafs	p.GK469fs	KDM3A_ENST00000485171.1_3'UTR|KDM3A_ENST00000312912.5_Frame_Shift_Ins_p.GK469fs|KDM3A_ENST00000409064.1_Frame_Shift_Ins_p.GK469fs|KDM3A_ENST00000542128.1_Frame_Shift_Ins_p.GK417fs			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	469					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						AACTGTTCAGGAAAAAAGGTAG	0.401													41	87	---	---	---	---					
DYNC1LI1	51143	broad.mit.edu	37	3	32571050	32571050	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:32571050delT	ENST00000273130.4	-	11	1391	c.1288delA	c.(1288-1290)attfs	p.I430fs	DYNC1LI1_ENST00000432458.2_Frame_Shift_Del_p.I314fs	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	430					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						TTTGGATCAATTTTTTTTGAC	0.398													8	78	---	---	---	---					
ZNF608	57507	broad.mit.edu	37	5	124079813	124079815	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:124079813_124079815delCTC	ENST00000306315.5	-	1	1303_1305	c.868_870delGAG	c.(868-870)gagdel	p.E290del	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	290						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCTGTGGCTCTCCTCCTCCTCC	0.522													11	339	---	---	---	---					
ABHD16A	7920	broad.mit.edu	37	6	31660894	31660894	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:31660894delC	ENST00000395952.3	-	7	698	c.536delG	c.(535-537)ggtfs	p.G179fs	ABHD16A_ENST00000538874.1_Frame_Shift_Del_p.V81fs|ABHD16A_ENST00000375842.4_5'UTR|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000440843.2_Frame_Shift_Del_p.G146fs	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	179						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CAGGGCCACACCCCGGCGGGA	0.622													24	66	---	---	---	---					
CLCN3P1	100419056	broad.mit.edu	37	9	15001532	15001532	+	RNA	DEL	A	A	-	rs145587935		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:15001532delA	ENST00000609203.1	-	0	1016																											AAAAGAGGGGAAAAAAAAGGT	0.303													6	6	---	---	---	---					
HRAS	3265	broad.mit.edu	37	11	533312	533321	+	Frame_Shift_Del	DEL	GGGTCCCAGA	GGGTCCCAGA	-			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:533312_533321delGGGTCCCAGA	ENST00000417302.1	-	5	675_684	c.488_497delTCTGGGACCC	c.(487-498)ctctgggaccccfs	p.LWDP163fs	HRAS_ENST00000311189.7_Intron|HRAS_ENST00000397596.2_Intron|HRAS_ENST00000397594.1_Frame_Shift_Del_p.LWDP163fs|HRAS_ENST00000451590.1_Intron	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	0					activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GGGTCCCGGGGGGTCCCAGAGGGTCCCGGA	0.738		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			20	9	---	---	---	---					
DDX10	1662	broad.mit.edu	37	11	108788635	108788637	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:108788635_108788637delTGA	ENST00000526794.1	+	17	2372_2374	c.2340_2342delTGA	c.(2338-2343)agtgat>agt	p.D788del	DDX10_ENST00000322536.3_In_Frame_Del_p.D788del			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	788							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGGATTGGAGtgatgatgatgat	0.355			T	NUP98	AML*								7	45	---	---	---	---					
DDX55	57696	broad.mit.edu	37	12	124103201	124103202	+	Translation_Start_Site	DEL	TG	TG	-			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:124103201_124103202delTG	ENST00000421670.3	+	0	639_640				DDX55_ENST00000238146.4_Intron|DDX55_ENST00000541259.1_Intron|DDX55_ENST00000538744.1_Intron			Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55								ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		GAATGTGGTATGTGTGTGTGTG	0.520											OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	91	---	---	---	---					
ADAM21	8747	broad.mit.edu	37	14	70924869	70924871	+	In_Frame_Del	DEL	ATG	ATG	-	rs141326765		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:70924869_70924871delATG	ENST00000603540.1	+	2	911_913	c.653_655delATG	c.(652-657)catgat>cat	p.D219del	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_In_Frame_Del_p.D219del	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	219	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GTGGTGAACCATGATTTCTTCAT	0.414													7	177	---	---	---	---					
MSL1	339287	broad.mit.edu	37	17	38289813	38289822	+	Frame_Shift_Del	DEL	AAAGAATTTT	AAAGAATTTT	-			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:38289813_38289822delAAAGAATTTT	ENST00000398532.4	+	7	1898_1907	c.1583_1592delAAAGAATTTT	c.(1582-1593)caaagaattttafs	p.QRIL528fs	MSL1_ENST00000578648.1_Frame_Shift_Del_p.QRIL512fs|MSL1_ENST00000579565.1_Frame_Shift_Del_p.QRIL265fs	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)						histone H4-K16 acetylation	MSL complex		p.R328I(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						ATCAGGGAACAAAGAATTTTACAGCGACTG	0.390													9	3	---	---	---	---					
SCRN2	90507	broad.mit.edu	37	17	45915767	45915767	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:45915767delG	ENST00000407215.3	-	7	1069	c.988delC	c.(988-990)cagfs	p.Q330fs	SCRN2_ENST00000584123.1_Frame_Shift_Del_p.Q338fs|SCRN2_ENST00000290216.9_Frame_Shift_Del_p.Q330fs			Q96FV2	SCRN2_HUMAN	secernin 2	330			Q -> R (in dbSNP:rs34480825).		proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						GACAGCACCTGGGGGGCCTGG	0.577													245	59	---	---	---	---					
LMAN1	3998	broad.mit.edu	37	18	57013193	57013194	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr18:57013193_57013194insT	ENST00000251047.5	-	8	1629_1630	c.912_913insA	c.(910-915)aaagagfs	p.E305fs		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	305					blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TGGAATTCCTCTTTTTTTTTAT	0.455													7	134	---	---	---	---					
ZNF615	284370	broad.mit.edu	37	19	52505446	52505447	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:52505446_52505447insC	ENST00000602063.1	-	4	452_453	c.103_104insG	c.(103-105)gacfs	p.D35fs	ZNF615_ENST00000376716.5_Frame_Shift_Ins_p.D35fs|ZNF615_ENST00000594083.1_Frame_Shift_Ins_p.D35fs|ZNF615_ENST00000597747.1_Frame_Shift_Ins_p.D35fs|ZNF615_ENST00000598071.1_Frame_Shift_Ins_p.D35fs|ZNF615_ENST00000391795.3_Frame_Shift_Ins_p.D40fs			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CAACATCACGTCCCGGTACAGG	0.564													204	179	---	---	---	---					
AC008984.2	0	broad.mit.edu	37	19	54843564	54843565	+	RNA	INS	-	-	C	rs144647366	by1000genomes	TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:54843564_54843565insC	ENST00000507363.1	-	0	430																											CGGCTGCTCCTCCCCAGGCTGC	0.723													4	4	---	---	---	---					
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													8	408	---	---	---	---