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
RBM39	9584	broad.mit.edu	37	20	34302145	34302145	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr20:34302145G>A	ENST00000361162.6	-	11	1442	c.1058C>T	c.(1057-1059)aCa>aTa	p.T353I	RBM39_ENST00000528062.3_Missense_Mutation_p.T331I|RBM39_ENST00000407261.4_Missense_Mutation_p.T196I|RBM39_ENST00000253363.6_Missense_Mutation_p.T353I	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	353	Activating domain (By similarity).|Interaction with JUN (By similarity).				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding	p.T353I(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					ACGACCAGTTGTTCCCAAATC	0.408000													8	66					0	0	0.006214	0	0
APOA5	116519	broad.mit.edu	37	11	116662530	116662530	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:116662530G>A	ENST00000542499.1	-	2	119	c.47C>T	c.(46-48)tCa>tTa	p.S16L	APOA5_ENST00000227665.4_Missense_Mutation_p.S16L	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN	apolipoprotein A-V	16					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		AGACCCACCTGAAAGAAGAGC	0.632000											OREG0003485|OREG0021366	type=REGULATORY REGION|Gene=APOA5|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	30					0	0	0.009096	0	0
GK2	2712	broad.mit.edu	37	4	80328806	80328806	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:80328806G>C	ENST00000358842.3	-	1	566	c.549C>G	c.(547-549)atC>atG	p.I183M		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	183					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TCAAACTCCAGATAAGCCATG	0.403000													4	80					0	0	0.009096	0	0
P4HA1	5033	broad.mit.edu	37	10	74803657	74803657	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr10:74803657C>G	ENST00000263556.3	-	9	1376	c.1136G>C	c.(1135-1137)aGa>aCa	p.R379T	P4HA1_ENST00000307116.2_Intron|P4HA1_ENST00000373008.2_Missense_Mutation_p.R379T|P4HA1_ENST00000412021.2_Intron|P4HA1_ENST00000394890.2_Intron|P4HA1_ENST00000440381.1_Missense_Mutation_p.R379T	NM_000917.3	NP_000908.2	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	379						endoplasmic reticulum lumen|mitochondrion	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 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTTAGATACTCTGTACTGTGC	0.398000													33	233					0	0	0.012213	0	0
HSPG2	3339	broad.mit.edu	37	1	22170783	22170783	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:22170783C>T	ENST00000374695.3	-	65	8553	c.8474G>A	c.(8473-8475)gGa>gAa	p.G2825E		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2825	Ig-like C2-type 13.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGGTGGGGCTCCACCTGGGGC	0.682000													10	67					0	0	0.008291	0	0
GPC6	10082	broad.mit.edu	37	13	94938726	94938726	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr13:94938726C>A	ENST00000377047.4	+	5	1616	c.1001C>A	c.(1000-1002)tCt>tAt	p.S334Y		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	334						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				ATGCAGGTGTCTGCAAAGGTA	0.418000													5	41					0.00116845	0.00123041	0.001168	1	0
SH3PXD2A	9644	broad.mit.edu	37	10	105362900	105362900	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr10:105362900G>C	ENST00000369774.4	-	15	2351	c.2075C>G	c.(2074-2076)tCa>tGa	p.S692*	SH3PXD2A_ENST00000540321.1_Nonsense_Mutation_p.S559*|SH3PXD2A_ENST00000355946.2_Nonsense_Mutation_p.S664*|SH3PXD2A_ENST00000538130.1_Nonsense_Mutation_p.S527*|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	692	Ser-rich.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GGTGATGGATGAGGAAAAGGA	0.542000													26	144					0	0	0.003330	0	0
MAML3	55534	broad.mit.edu	37	4	140811093	140811093	+	Silent	SNP	C	C	T	rs72161425		TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:140811093C>T	ENST00000509479.2	-	2	2353	c.1497G>A	c.(1495-1497)caG>caA	p.Q499Q	MAML3_ENST00000327122.5_Silent_p.Q343Q|MAML3_ENST00000398940.1_Intron	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	499	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.527000													3	46					0	0	0.009096	0	0
LMBRD2	92255	broad.mit.edu	37	5	36122518	36122518	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:36122518C>A	ENST00000296603.4	-	9	1446	c.984G>T	c.(982-984)caG>caT	p.Q328H		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	328						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCAAAAGAATCTGCCATTGTA	0.408000													4	40					0.00909568	0.00943507	0.009096	1	0
CCDC129	223075	broad.mit.edu	37	7	31683300	31683300	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr7:31683300G>A	ENST00000319386.3	+	11	2865	c.1872G>A	c.(1870-1872)ttG>ttA	p.L624L	CCDC129_ENST00000451887.2_Silent_p.L798L|CCDC129_ENST00000409210.1_Silent_p.L680L|CCDC129_ENST00000407970.3_Silent_p.L772L			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	772										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ACAAGACCTTGACACATGGGC	0.502000													17	79					0	0	0.004990	0	0
DNAH5	1767	broad.mit.edu	37	5	13883188	13883188	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:13883188G>A	ENST00000265104.4	-	20	3103	c.2999C>T	c.(2998-3000)tCt>tTt	p.S1000F	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1000	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTCATGTTAGAGGCACTGTT	0.418000									Kartagener syndrome				13	92					0	0	0.001368	0	0
PCDH17	27253	broad.mit.edu	37	13	58208221	58208221	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr13:58208221C>T	ENST00000377918.3	+	1	1567	c.1541C>T	c.(1540-1542)tCg>tTg	p.S514L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	514	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.S514L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ATCCTGCCCTCGCACATCGGC	0.592000													8	39					0	0	0.003080	0	0
BAGE2	85319	broad.mit.edu	37	21	11038927	11038927	+	RNA	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr21:11038927C>T	ENST00000470054.1	-	0	1276									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACACATCTGCCTTGCTTATGT	0.428000													14	429					0	0	0.002450	0	0
ELOF1	84337	broad.mit.edu	37	19	11665079	11665079	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:11665079G>A	ENST00000586683.1	-	2	141	c.84C>T	c.(82-84)ttC>ttT	p.F28F	ELOF1_ENST00000587806.1_Silent_p.F49F|ELOF1_ENST00000589171.1_Silent_p.F28F|ELOF1_ENST00000591674.1_Silent_p.F35F|ELOF1_ENST00000586120.1_Silent_p.F28F|ELOF1_ENST00000591912.1_Silent_p.F28F|ELOF1_ENST00000590700.1_Silent_p.F28F|ELOF1_ENST00000252445.3_Silent_p.F28F			P60002	ELOF1_HUMAN	elongation factor 1 homolog (S. cerevisiae)	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			endometrium(3)|lung(2)	5						CGTGGTTGCAGAAGGGGCAGG	0.572000													14	114					0	0	0.003163	0	0
ZBTB17	7709	broad.mit.edu	37	1	16273491	16273491	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:16273491G>C	ENST00000537142.1	-	3	311	c.65C>G	c.(64-66)tCa>tGa	p.S22*	ZBTB17_ENST00000448462.2_Intron|ZBTB17_ENST00000375743.4_Silent_p.L111L|ZBTB17_ENST00000375733.2_Silent_p.L111L|ZBTB17_ENST00000479282.1_5'UTR	NM_001242884.1	NP_001229813.1	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	0	BTB.				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGTGACTTGAGGGCATGGC	0.602000													8	45					0	0	0.003080	0	0
ADRA2C	152	broad.mit.edu	37	4	3768939	3768939	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:3768939C>T	ENST00000330055.5	+	1	815	c.606C>T	c.(604-606)tgC>tgT	p.C202C	ADRA2C_ENST00000509482.1_Silent_p.C202C	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	202					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	ACCCGCAGTGCGGCCTCAACG	0.672000													3	25					0	0	0.004672	0	0
SEMA6D	80031	broad.mit.edu	37	15	48056145	48056145	+	Silent	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr15:48056145G>C	ENST00000316364.5	+	10	1285	c.846G>C	c.(844-846)ctG>ctC	p.L282L	SEMA6D_ENST00000358066.4_Silent_p.L282L|SEMA6D_ENST00000558816.1_Silent_p.L282L|SEMA6D_ENST00000389433.2_Silent_p.L282L|SEMA6D_ENST00000558014.1_Silent_p.L282L|SEMA6D_ENST00000389428.3_Silent_p.L282L|SEMA6D_ENST00000354744.4_Silent_p.L282L|SEMA6D_ENST00000389432.2_Silent_p.L282L|SEMA6D_ENST00000389425.3_Silent_p.L282L|SEMA6D_ENST00000536845.2_Silent_p.L282L|SEMA6D_ENST00000355997.3_Silent_p.L282L|SEMA6D_ENST00000537942.1_Silent_p.L282L	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	282	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AGGCTCGGCTGAACTGTTCTG	0.488000													11	86					0	0	0.008291	0	0
KRT13	3860	broad.mit.edu	37	17	39659616	39659616	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr17:39659616G>A	ENST00000246635.3	-	3	704	c.658C>T	c.(658-660)Ctg>Ttg	p.L220L	KRT13_ENST00000336861.3_Silent_p.L220L|KRT13_ENST00000587544.1_Silent_p.L220L	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	220	Coil 1B.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GTCTTAGACAGAGTGAGCTCA	0.527000													20	111					0	0	0.010504	0	0
TMEM178A	130733	broad.mit.edu	37	2	39893244	39893244	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:39893244G>C	ENST00000281961.2	+	1	186	c.130G>C	c.(130-132)Gag>Cag	p.E44Q	TMEM178A_ENST00000482239.1_Intron	NM_152390.2	NP_689603.2			transmembrane protein 178A																		GGAGAGCTGCGAGCGCAGCCG	0.741000													5	24					0	0	0.001168	0	0
RCN3	57333	broad.mit.edu	37	19	50042435	50042435	+	Splice_Site	SNP	C	C	T	rs151007768	byFrequency	TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:50042435C>T	ENST00000270645.3	+	5	1125	c.679_splice	c.e5+1	p.I226_splice		NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	226	EF-hand 4.					endoplasmic reticulum lumen	calcium ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		AGGAGTACATCGGTGAGTGGG	0.577000													7	53					0	0	0.001984	0	0
MYH7	4625	broad.mit.edu	37	14	23897712	23897712	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr14:23897712C>T	ENST00000355349.3	-	15	1737	c.1575G>A	c.(1573-1575)gaG>gaA	p.E525E		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	525	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GAGGCACCTTCTCGATGAGGT	0.502000													7	50					0	0	0.001984	0	0
GCNT2	2651	broad.mit.edu	37	6	10529667	10529667	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr6:10529667G>A	ENST00000379597.3	+	1	1079	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	GCNT2_ENST00000495262.1_Missense_Mutation_p.E175K|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	175						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GAACTGCCTGGAAGACCTTGT	0.507000													21	39					0	0	0.002299	0	0
POU2F2	5452	broad.mit.edu	37	19	42600050	42600050	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:42600050T>C	ENST00000389341.5	-	9	713	c.647A>G	c.(646-648)tAc>tGc	p.Y216C	POU2F2_ENST00000529067.1_Missense_Mutation_p.Y216C|POU2F2_ENST00000560398.1_Missense_Mutation_p.Y238C|POU2F2_ENST00000560558.1_Missense_Mutation_p.Y177C|POU2F2_ENST00000529952.1_Missense_Mutation_p.Y232C|POU2F2_ENST00000526816.2_Missense_Mutation_p.Y232C|POU2F2_ENST00000342301.4_Missense_Mutation_p.Y232C|POU2F2_ENST00000533720.1_Missense_Mutation_p.Y216C	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	232	POU-specific.				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				GTCGTTGCCGTAGAGCTTGCC	0.652000													22	105					0	0	0.002299	0	0
XK	7504	broad.mit.edu	37	X	37587032	37587032	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chrX:37587032G>C	ENST00000378616.3	+	3	855	c.652G>C	c.(652-654)Gag>Cag	p.E218Q	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	218					amino acid transport	integral to membrane	protein binding|transporter activity	p.E218K(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				GAGGAGCTTTGAGATTGCCAC	0.458000													8	17					0	0	0.004482	0	0
MUTYH	4595	broad.mit.edu	37	1	45797203	45797203	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:45797203G>A	ENST00000450313.1	-	13	1427	c.1212C>T	c.(1210-1212)ttC>ttT	p.F404F	MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000355498.2_Silent_p.F376F|MUTYH_ENST00000372098.3_Silent_p.F401F|MUTYH_ENST00000456914.2_Silent_p.F376F|MUTYH_ENST00000529984.1_Silent_p.F71F|MUTYH_ENST00000448481.1_Silent_p.F387F|MUTYH_ENST00000372100.5_Silent_p.F387F|MUTYH_ENST00000372115.3_Silent_p.F390F|MUTYH_ENST00000488731.2_Silent_p.F71F|MUTYH_ENST00000372104.1_Silent_p.F376F|MUTYH_ENST00000354383.6_Silent_p.F377F|MUTYH_ENST00000528332.2_Silent_p.F85F|MUTYH_ENST00000372110.3_Silent_p.F391F	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN	mutY homolog	401	Nudix hydrolase.				depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TCACGGACGGGAACTCCCACA	0.657000			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				15	56					0	0	0.003163	0	0
TTC3	7267	broad.mit.edu	37	21	38525425	38525425	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr21:38525425G>C	ENST00000399017.2	+	27	5335	c.2588G>C	c.(2587-2589)aGa>aCa	p.R863T	TTC3_ENST00000540756.1_Missense_Mutation_p.R553T|TTC3_ENST00000355666.1_Missense_Mutation_p.R863T|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.R863T	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	863					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TTTTCTAGCAGAAATTTTCTA	0.348000													18	86					0	0	0.006122	0	0
RGPD4	285190	broad.mit.edu	37	2	108487257	108487257	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:108487257C>T	ENST00000408999.3	+	20	2874	c.2797C>T	c.(2797-2799)Caa>Taa	p.Q933*	RGPD4_ENST00000354986.4_Nonsense_Mutation_p.Q933*	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	933					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ACCAGGAAATCAAGAAAAGGA	0.413000													54	258					0	0	0.003610	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													3	62					0	0	0.009096	0	0
PCBP2	5094	broad.mit.edu	37	12	53849783	53849783	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr12:53849783G>T	ENST00000603815.1	+	5	591	c.241G>T	c.(241-243)Gag>Tag	p.E81*	PCBP2_ENST00000552819.1_Nonsense_Mutation_p.E81*|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000552296.2_Nonsense_Mutation_p.E81*|PCBP2_ENST00000541275.1_Nonsense_Mutation_p.E81*|PCBP2_ENST00000455667.3_Nonsense_Mutation_p.E81*|PCBP2_ENST00000447282.1_Nonsense_Mutation_p.E81*|PCBP2_ENST00000439930.3_Nonsense_Mutation_p.E81*|PCBP2_ENST00000437231.1_Nonsense_Mutation_p.E81*|PCBP2_ENST00000549863.1_Nonsense_Mutation_p.E81*|PCBP2_ENST00000548933.1_Nonsense_Mutation_p.E81*|PCBP2_ENST00000359462.5_Nonsense_Mutation_p.E81*|PCBP2_ENST00000359282.5_Nonsense_Mutation_p.E81*|PCBP2_ENST00000546463.1_Nonsense_Mutation_p.E81*	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	81					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						CAAACTGGAAGAGGTTTGTTG	0.413000													15	189					2.35188e-11	2.54406e-11	0.006122	1	0
ATP7A	538	broad.mit.edu	37	X	77243873	77243873	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chrX:77243873G>A	ENST00000341514.6	+	3	411	c.256G>A	c.(256-258)Gac>Aac	p.D86N	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.D86N	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	86					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TGTTTTAACTGACACCTTGTT	0.443000													72	166					0	0	0.003610	0	0
PLAT	5327	broad.mit.edu	37	8	42038171	42038171	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr8:42038171G>A	ENST00000220809.4	-	10	1178	c.922C>T	c.(922-924)Cag>Tag	p.Q308*	PLAT_ENST00000352041.3_Nonsense_Mutation_p.Q262*|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000429089.2_Nonsense_Mutation_p.Q308*|PLAT_ENST00000519510.1_Nonsense_Mutation_p.Q245*|PLAT_ENST00000524009.1_Nonsense_Mutation_p.Q219*|PLAT_ENST00000429710.2_Nonsense_Mutation_p.Q182*	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	308					blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ATGCGAAACTGAGGCTGGCTG	0.632000													8	35					0	0	0.004482	0	0
DUSP8	1850	broad.mit.edu	37	11	1579116	1579116	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:1579116G>A	ENST00000397374.3	-	6	856	c.729C>T	c.(727-729)atC>atT	p.I243I	DUSP8_ENST00000528778.1_5'UTR|DUSP8_ENST00000331588.4_Silent_p.I243I	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	243	Tyrosine-protein phosphatase.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		GACAGTGGACGATGACTTGGC	0.617000													13	60					0	0	0.001855	0	0
PAPPA2	60676	broad.mit.edu	37	1	176740227	176740227	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:176740227C>T	ENST00000367662.3	+	17	5790	c.4626C>T	c.(4624-4626)ctC>ctT	p.L1542L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1542	Sushi 3.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTCACTGCCTCCAGGACAACC	0.488000													7	61					0	0	0.001984	0	0
FIGNL1	63979	broad.mit.edu	37	7	50513306	50513306	+	Silent	SNP	C	C	T	rs143012740		TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr7:50513306C>T	ENST00000419119.1	-	2	3233	c.1680G>A	c.(1678-1680)gtG>gtA	p.V560V	FIGNL1_ENST00000433017.1_Silent_p.V560V|FIGNL1_ENST00000395556.2_Silent_p.V560V|FIGNL1_ENST00000356889.4_Silent_p.V560V			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	560					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				AAAGCCTTTTCACCAATCTTC	0.433000													4	92					0	0	0.009096	0	0
WNT3	7473	broad.mit.edu	37	17	44895960	44895960	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr17:44895960C>G	ENST00000225512.5	-	1	166	c.4G>C	c.(4-6)Gag>Cag	p.E2Q		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	2					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			AGGTGGGGCTCCATTAGAAGA	0.602000													2	9					0	0	0.004672	0	0
TRPM4	54795	broad.mit.edu	37	19	49692319	49692319	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:49692319C>T	ENST00000252826.5	+	14	2116	c.1990C>T	c.(1990-1992)Cgt>Tgt	p.R664C	TRPM4_ENST00000427978.2_Missense_Mutation_p.R664C|TRPM4_ENST00000355712.5_Missense_Mutation_p.R310C	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	664					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		AGCTGACGCCCGTGCCTTCTT	0.622000													25	108					0	0	0.002780	0	0
RAD50	10111	broad.mit.edu	37	5	131930643	131930643	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:131930643G>A	ENST00000378823.3	+	12	2277	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	RAD50_ENST00000265335.6_Missense_Mutation_p.E626K	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	626					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTCCAGTTACGAAGACAAGCT	0.338000								Homologous recombination					12	63					0	0	0.001368	0	0
OR56A1	120796	broad.mit.edu	37	11	6048851	6048851	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:6048851C>G	ENST00000316650.5	-	1	120	c.84G>C	c.(82-84)caG>caC	p.Q28H		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGCCAACTCTGGAAGTTGG	0.577000													7	111					0	0	0.001984	0	0
ANGPTL6	83854	broad.mit.edu	37	19	10204163	10204163	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:10204163C>T	ENST00000253109.4	-	5	1322	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N	ANGPTL6_ENST00000592641.1_Missense_Mutation_p.D362N|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.D322N	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	362	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			GAGAAGCCATCATAGTGGGCA	0.622000													12	58					0	0	0.010729	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176795	140176795	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:140176795C>T	ENST00000526136.1	+	1	2246	c.2246C>T	c.(2245-2247)tCt>tTt	p.S749F	PCDHA2_ENST00000520672.2_Missense_Mutation_p.S749F|PCDHA2_ENST00000378132.1_Missense_Mutation_p.S749F|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1												p.S749Y(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGCTGGTCTTACTCGCAG	0.672000													19	77					0	0	0.007413	0	0
INPP5B	3633	broad.mit.edu	37	1	38345771	38345771	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:38345771G>A	ENST00000373023.2	-	15	1860	c.1767C>T	c.(1765-1767)gaC>gaT	p.D589D	INPP5B_ENST00000373026.1_Silent_p.D589D|INPP5B_ENST00000458109.2_3'UTR|INPP5B_ENST00000373024.3_Silent_p.D509D|INPP5B_ENST00000373027.1_Silent_p.D345D	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	589				GSDDWDTSEKCRAPAWCDRI -> RALTTGIPVRSAVLLPG VIGF (in Ref. 5; AA sequence).	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TATCCCAGTCGTCAGAGCCCG	0.478000													19	78					0	0	0.007413	0	0
SHROOM4	57477	broad.mit.edu	37	X	50377856	50377856	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chrX:50377856G>C	ENST00000376020.2	-	4	1242	c.1217C>G	c.(1216-1218)aCa>aGa	p.T406R	SHROOM4_ENST00000289292.7_Missense_Mutation_p.T406R|SHROOM4_ENST00000460112.3_Missense_Mutation_p.T290R	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	406					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCGATGCCCTGTGGGTCCTAT	0.567000													5	11					0	0	0.000602	0	0
CCR6	1235	broad.mit.edu	37	6	167550802	167550802	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr6:167550802G>A	ENST00000341935.5	+	3	1636	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	CCR6_ENST00000400926.2_Missense_Mutation_p.E362K|CCR6_ENST00000349984.4_Missense_Mutation_p.E362K	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	362					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		GCAGACCAGTGAGACCGCAGA	0.468000													5	52					0	0	0.001984	0	0
STK39	27347	broad.mit.edu	37	2	169023849	169023849	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:169023849G>A	ENST00000355999.4	-	3	1095	c.390C>T	c.(388-390)gtC>gtT	p.V130V		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	130	Protein kinase.				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						GTTCATCTTTGACCACAAAAG	0.378000													4	37					0	0	0.000602	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227268658	227268658	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:227268658C>A	ENST00000366769.3	-	17	3707	c.2416G>T	c.(2416-2418)Gat>Tat	p.D806Y	CDC42BPA_ENST00000366767.3_Missense_Mutation_p.D725Y|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.D806Y|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.D806Y|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.D806Y|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.D806Y|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.D806Y	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	806					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TCTGCTAGATCTTTAACCTCT	0.358000													18	64					1.99824e-07	2.14482e-07	0.004990	1	0
ATXN2	6311	broad.mit.edu	37	12	111956093	111956093	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr12:111956093G>A	ENST00000377617.3	-	9	1766	c.1605C>T	c.(1603-1605)ttC>ttT	p.F535F	ATXN2_ENST00000389153.4_Silent_p.F270F|ATXN2_ENST00000550104.1_Silent_p.F535F|ATXN2_ENST00000542287.2_Silent_p.F270F|ATXN2_ENST00000535949.1_Silent_p.F246F	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	535					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						AATTCGGGTTGAAATCTGAAG	0.423000													15	73					0	0	0.004990	0	0
ZNF599	148103	broad.mit.edu	37	19	35251156	35251156	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:35251156G>C	ENST00000329285.7	-	4	923	c.550C>G	c.(550-552)Caa>Gaa	p.Q184E		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	184					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)			CCTGGTCCTTGAGAGTCACAC	0.473000													7	127					0	0	0.001984	0	0
MB21D2	151963	broad.mit.edu	37	3	192516720	192516720	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:192516720G>C	ENST00000392452.2	-	2	1251	c.931C>G	c.(931-933)Cag>Gag	p.Q311E		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	311								p.Q309E(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGCAGGCCTGATAGGCCTGC	0.557000													4	46					0	0	0.009096	0	0
GLRB	2743	broad.mit.edu	37	4	158057783	158057783	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:158057783C>T	ENST00000264428.4	+	5	730	c.460C>T	c.(460-462)Cat>Tat	p.H154Y	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Missense_Mutation_p.H154Y|GLRB_ENST00000509282.1_Missense_Mutation_p.H154Y	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	154					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	p.H154Y(1)		central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TGCCAATTTTCATGATGTGAC	0.353000													17	106					0	0	0.007413	0	0
EPHB1	2047	broad.mit.edu	37	3	134911464	134911464	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:134911464G>C	ENST00000398015.3	+	11	2299	c.1929G>C	c.(1927-1929)aaG>aaC	p.K643N	EPHB1_ENST00000493838.1_Missense_Mutation_p.K204N	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	643	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGCCAGGCAAGAGGGAAATCT	0.527000													10	37					0	0	0.006214	0	0
RARS2	57038	broad.mit.edu	37	6	88251661	88251661	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr6:88251661G>C	ENST00000369536.5	-	8	632	c.587C>G	c.(586-588)tCc>tGc	p.S196C		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	196					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		TAGAGGATTGGACTGCAGTTT	0.363000													4	26					0	0	0.001984	0	0
LCN6	158062	broad.mit.edu	37	9	139639631	139639631	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr9:139639631C>T	ENST00000435202.1	-	4	372	c.373G>A	c.(373-375)Gag>Aag	p.E125K	LCN6_ENST00000476567.1_Missense_Mutation_p.E50K|LCN6_ENST00000471509.1_5'UTR|LCN6_ENST00000480584.1_5'UTR|LCN6_ENST00000341206.4_Missense_Mutation_p.E135K			P62502	LCN6_HUMAN	lipocalin 6	135					single fertilization	extracellular region	binding			lung(3)|upper_aerodigestive_tract(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		CTGTACAGCTCCACGGTGTTG	0.627000													10	51					0	0	0.008291	0	0
SRCAP	10847	broad.mit.edu	37	16	30749246	30749246	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr16:30749246G>A	ENST00000262518.4	+	34	8270	c.7885G>A	c.(7885-7887)Gag>Aag	p.E2629K	SRCAP_ENST00000395059.2_Missense_Mutation_p.E2567K|SRCAP_ENST00000344771.4_Missense_Mutation_p.E2471K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2629	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGATTCTGCTGAGGGGACCAC	0.582000													16	80					0	0	0.004007	0	0
SEPP1	6414	broad.mit.edu	37	5	42808335	42808335	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:42808335G>A	ENST00000514985.1	-	2	377	c.121C>T	c.(121-123)Cca>Tca	p.P41S	SEPP1_ENST00000506577.1_Missense_Mutation_p.P41S|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000511224.1_Missense_Mutation_p.P41S|SEPP1_ENST00000507920.1_Missense_Mutation_p.P41S	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	41					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						TTTAGCATTGGATCTTGATCT	0.502000													6	37					0	0	0.001168	0	0
KCNIP4	80333	broad.mit.edu	37	4	20884283	20884283	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:20884283G>A	ENST00000382152.2	-	2	278	c.111C>T	c.(109-111)ctC>ctT	p.L37L	KCNIP4_ENST00000359001.5_Intron|KCNIP4_ENST00000509207.1_Intron|KCNIP4_ENST00000382149.4_Intron|KCNIP4_ENST00000382150.4_Intron|KCNIP4_ENST00000382148.3_Intron|KCNIP4_ENST00000447367.2_Intron	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	37	KIS (By similarity).					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				AGAGCTTCATGAGCCGCTCTT	0.448000													3	31					0	0	0.009096	0	0
IPO13	9670	broad.mit.edu	37	1	44422118	44422118	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:44422118C>T	ENST00000372343.3	+	3	1610	c.948C>T	c.(946-948)ggC>ggT	p.G316G	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	316					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGGCCCTGGGCGAGAACCACT	0.597000													16	52					0	0	0.003163	0	0
CSHL1	1444	broad.mit.edu	37	17	61988231	61988231	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr17:61988231G>C	ENST00000392824.4	-	2	125	c.64C>G	c.(64-66)Caa>Gaa	p.Q22E	CSHL1_ENST00000309894.5_Missense_Mutation_p.Q22E|CSHL1_ENST00000259003.10_Missense_Mutation_p.Q22E|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000438387.2_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	22						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						CCAGCCTCTTGAAGCCAGGGC	0.612000													5	57					0	0	0.001168	0	0
CHRNG	1146	broad.mit.edu	37	2	233405103	233405103	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:233405103G>A	ENST00000389494.3	+	3	229	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	CHRNG_ENST00000389492.3_Missense_Mutation_p.E70K	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	70					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		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;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CGAGCGAGAGGAAGCCCTCAC	0.632000													17	78					0	0	0.004990	0	0
SERINC2	347735	broad.mit.edu	37	1	31897634	31897634	+	Silent	SNP	C	C	T	rs35593581	byFrequency	TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:31897634C>T	ENST00000373710.1	+	4	606	c.333C>T	c.(331-333)ttC>ttT	p.F111F	SERINC2_ENST00000373709.3_Silent_p.F102F|SERINC2_ENST00000536859.1_Silent_p.F106F|SERINC2_ENST00000536384.1_Silent_p.F106F|SERINC2_ENST00000491976.1_3'UTR	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN	serine incorporator 2	102				F -> FF (in Ref. 3).		integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		GCATGTGCTTCGCCACGGCGG	0.657000													3	22					0	0	0.004672	0	0
OR52E2	119678	broad.mit.edu	37	11	5080352	5080352	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:5080352G>A	ENST00000321522.2	-	1	505	c.506C>T	c.(505-507)cCc>cTc	p.P169L		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCCACAGAAGGGCAACCGCAA	0.418000													3	24					0	0	0.004672	0	0
DGKG	1608	broad.mit.edu	37	3	185882740	185882740	+	Silent	SNP	G	G	A	rs137961016	byFrequency	TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:185882740G>A	ENST00000265022.3	-	23	2702	c.2163C>T	c.(2161-2163)acC>acT	p.T721T	DGKG_ENST00000447054.1_5'UTR|DGKG_ENST00000344484.4_Silent_p.T696T|DGKG_ENST00000544847.1_Silent_p.T662T|DGKG_ENST00000382164.4_Silent_p.T682T	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	721					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TCTTCAGGCCGGTGTAGATCT	0.587000													13	52					0	0	0.001368	0	0
CELSR2	1952	broad.mit.edu	37	1	109815344	109815344	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:109815344C>A	ENST00000271332.3	+	30	8198	c.8137C>A	c.(8137-8139)Cag>Aag	p.Q2713K	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2713					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCAAGACCAGCAGCATGGTGA	0.622000													12	50					0.000978159	0.00103395	0.010729	1	0
TOPBP1	11073	broad.mit.edu	37	3	133368367	133368367	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:133368367G>C	ENST00000260810.5	-	10	1495	c.1364C>G	c.(1363-1365)tCa>tGa	p.S455*	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	455					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AGGCTTATGTGAAACTGGAAT	0.393000								Other conserved DNA damage response genes					35	124					0	0	0.003755	0	0
LRIG2	9860	broad.mit.edu	37	1	113657144	113657144	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:113657144C>T	ENST00000361127.4	+	15	2374	c.2176C>T	c.(2176-2178)Cgt>Tgt	p.R726C	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	726	Ig-like C2-type 3.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TCCTGCCCCTCGTCTCAACTG	0.498000													11	70					0	0	0.008291	0	0
GALNT3	2591	broad.mit.edu	37	2	166615260	166615260	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:166615260G>A	ENST00000392701.3	-	6	1963	c.1188C>T	c.(1186-1188)ttC>ttT	p.F396F	GALNT3_ENST00000409882.1_Silent_p.F134F	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	396	Catalytic subdomain B.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						AACTTACTCTGAAAGACATTT	0.308000													8	54					0	0	0.004482	0	0
FETUB	26998	broad.mit.edu	37	3	186358276	186358276	+	Silent	SNP	C	C	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:186358276C>A	ENST00000265029.3	+	1	128	c.27C>A	c.(25-27)ctC>ctA	p.L9L	FETUB_ENST00000382136.3_Silent_p.L9L|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000450521.1_Silent_p.L9L|FETUB_ENST00000539949.1_Intron|FETUB_ENST00000382134.3_Silent_p.L9L	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	9				L -> P (in Ref. 6; AAH74734).		extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CCCTGGCACTCTGCATCCTAG	0.597000													77	209					1.41257e-51	1.55215e-51	0.003610	1	0
CUBN	8029	broad.mit.edu	37	10	17164832	17164832	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr10:17164832C>G	ENST00000377833.4	-	6	620	c.555G>C	c.(553-555)caG>caC	p.Q185H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	185	EGF-like 2; calcium-binding (Potential).				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGCCTCCATTCTGGCAGCTCA	0.383000													12	45					0	0	0.001855	0	0
ENPEP	2028	broad.mit.edu	37	4	111397596	111397596	+	Missense_Mutation	SNP	C	C	G	rs147278588		TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:111397596C>G	ENST00000265162.5	+	1	368	c.26C>G	c.(25-27)tCt>tGt	p.S9C		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	9					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AGAGAGGGCTCTAAGAGATAC	0.433000													17	121					0	0	0.007413	0	0
SH3BP4	23677	broad.mit.edu	37	2	235949960	235949960	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:235949960G>A	ENST00000409212.1	+	4	1054	c.547G>A	c.(547-549)Gag>Aag	p.E183K	SH3BP4_ENST00000344528.4_Missense_Mutation_p.E183K|SH3BP4_ENST00000392011.2_Missense_Mutation_p.E183K			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	183					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CAGCCTGGATGAGCTGAATCC	0.493000													29	115					0	0	0.007291	0	0
TTC17	55761	broad.mit.edu	37	11	43436245	43436245	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:43436245G>C	ENST00000039989.4	+	16	2184	c.2170G>C	c.(2170-2172)Gag>Cag	p.E724Q	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.E724Q	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	724							binding	p.E724Q(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CAAATGTCCAGAGTGTGAAAA	0.438000													9	91					0	0	0.004482	0	0
RUNX1T1	862	broad.mit.edu	37	8	92972554	92972554	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr8:92972554C>T	ENST00000523629.1	-	12	2185	c.1731G>A	c.(1729-1731)ggG>ggA	p.G577G	RUNX1T1_ENST00000520724.1_Silent_p.G540G|RUNX1T1_ENST00000422361.2_Silent_p.G540G|RUNX1T1_ENST00000396218.1_Silent_p.G550G|RUNX1T1_ENST00000360348.2_Silent_p.G540G|RUNX1T1_ENST00000265814.3_Silent_p.G577G|RUNX1T1_ENST00000436581.2_Silent_p.G588G|RUNX1T1_ENST00000518844.1_Silent_p.G550G	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	577					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CCATCGGGCTCCCAGCCCCGC	0.622000													8	39					0	0	0.003080	0	0
FAT1	2195	broad.mit.edu	37	4	187532590	187532590	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:187532590G>C	ENST00000441802.2	-	14	10012	c.9803C>G	c.(9802-9804)tCa>tGa	p.S3268*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3268	Cadherin 30.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACTTATTATTGAGTAGGTGAT	0.403000										HNSCC(5;0.00058)			7	27					0	0	0.003080	0	0
SHROOM4	57477	broad.mit.edu	37	X	50377082	50377082	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chrX:50377082G>A	ENST00000376020.2	-	4	2016	c.1991C>T	c.(1990-1992)tCt>tTt	p.S664F	SHROOM4_ENST00000289292.7_Missense_Mutation_p.S664F|SHROOM4_ENST00000460112.3_Missense_Mutation_p.S548F	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	664					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCACTCGGAAGACCTAGCTCT	0.532000													9	17					0	0	0.006214	0	0
ARFRP1	10139	broad.mit.edu	37	20	62331810	62331810	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr20:62331810C>G	ENST00000359715.4	-	7	1157	c.591G>C	c.(589-591)caG>caC	p.Q197H	ARFRP1_ENST00000485858.1_5'UTR|ARFRP1_ENST00000324228.2_Missense_Mutation_p.Q197H|ARFRP1_ENST00000440854.1_3'UTR			Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	197					small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			TGATGTCCCTCTGCCGCGGCG	0.682000													3	62					0	0	0.004672	0	0
TNIP3	79931	broad.mit.edu	37	4	122068285	122068285	+	Silent	SNP	T	T	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:122068285T>C	ENST00000454328.1	-	9	881	c.654A>G	c.(652-654)cgA>cgG	p.R218R	TNIP3_ENST00000509841.1_Silent_p.R295R|TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000057513.3_Silent_p.R218R|TNIP3_ENST00000507879.1_Silent_p.R288R			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	218										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TAAGTCTCTCTCGATCCGATC	0.373000													7	70					0	0	0.001984	0	0
GRID1	2894	broad.mit.edu	37	10	87487785	87487785	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr10:87487785C>G	ENST00000327946.7	-	10	1445	c.1360G>C	c.(1360-1362)Gag>Cag	p.E454Q	GRID1_ENST00000536331.1_Missense_Mutation_p.E25Q	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	454						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AGGATGTTCTCAGCCACCATC	0.448000										Multiple Myeloma(13;0.14)			17	156					0	0	0.004990	0	0
VPS45	11311	broad.mit.edu	37	1	150040002	150040002	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:150040002G>C	ENST00000369130.3	+	1	634	c.88G>C	c.(88-90)Gag>Cag	p.E30Q	VPS45_ENST00000369128.5_Intron|VPS45_ENST00000535106.1_Missense_Mutation_p.E30Q	NM_007259.3	NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	30					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction		p.E30Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CATGGATAAAGAGACGGTGAG	0.433000													4	49					0	0	0.000602	0	0
LCE2C	353140	broad.mit.edu	37	1	152648718	152648718	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:152648718A>G	ENST00000368783.1	+	2	282	c.227A>G	c.(226-228)cAc>cGc	p.H76R	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	76	Cys-rich.				keratinization					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGAGCCACCACAGGCCCCGT	0.682000													4	143					0	0	0.009096	0	0
PUF60	22827	broad.mit.edu	37	8	144899260	144899260	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr8:144899260C>T	ENST00000526683.1	-	11	1755	c.1200G>A	c.(1198-1200)gtG>gtA	p.V400V	PUF60_ENST00000527197.1_Silent_p.V354V|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000456095.2_Silent_p.V371V|PUF60_ENST00000349157.6_Silent_p.V383V|PUF60_ENST00000453551.2_Silent_p.V357V|PUF60_ENST00000313352.7_Silent_p.V340V	NM_001271098.1|NM_078480.1	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	400	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-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;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGATGGGGTTCACCACTCCCA	0.622000													3	25					0	0	0.009096	0	0
HS3ST6	64711	broad.mit.edu	37	16	1962054	1962054	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr16:1962054G>A	ENST00000454677.2	-	2	682	c.617C>T	c.(616-618)tCc>tTc	p.S206F	HS3ST6_ENST00000443547.1_Missense_Mutation_p.S158F|HS3ST6_ENST00000293937.3_Missense_Mutation_p.S189F			C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	158										endometrium(2)|lung(2)	4						GGCGTAGTCGGAGATGGCCCG	0.716000													5	31					0	0	0.000602	0	0
TICRR	90381	broad.mit.edu	37	15	90167507	90167507	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr15:90167507G>C	ENST00000268138.7	+	20	4071	c.3966G>C	c.(3964-3966)aaG>aaC	p.K1322N	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.K1321N					TOPBP1-interacting checkpoint and replication regulator																		TCTCCAAGAAGAGTCCATTTA	0.463000													10	128					0	0	0.006214	0	0
RGS20	8601	broad.mit.edu	37	8	54866838	54866838	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr8:54866838G>A	ENST00000297313.3	+	5	1038	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	RGS20_ENST00000522225.1_Missense_Mutation_p.E50K|RGS20_ENST00000517405.1_3'UTR|RGS20_ENST00000344277.6_Missense_Mutation_p.E201K|RGS20_ENST00000276500.4_Missense_Mutation_p.E169K	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	316	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GATAATCTATGAAGACTACAT	0.378000													6	47					0	0	0.001168	0	0
GRIP1	23426	broad.mit.edu	37	12	66786483	66786483	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr12:66786483G>T	ENST00000359742.4	-	18	2483	c.2243C>A	c.(2242-2244)aCc>aAc	p.T748N	GRIP1_ENST00000286445.7_Missense_Mutation_p.T748N|GRIP1_ENST00000398016.3_Missense_Mutation_p.T696N			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	748	PDZ 6.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		AATTTTCAAGGTGACAGTCTC	0.428000													10	94					0.000442599	0.000469628	0.006214	1	0
PTPRB	5787	broad.mit.edu	37	12	70931979	70931979	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr12:70931979C>G	ENST00000334414.6	-	28	5946	c.5902G>C	c.(5902-5904)Gat>Cat	p.D1968H	PTPRB_ENST00000261266.5_Missense_Mutation_p.D1750H|PTPRB_ENST00000550857.1_Missense_Mutation_p.D1660H|RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000550358.1_Missense_Mutation_p.D1880H|RP11-588H23.3_ENST00000548687.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000538708.1_Missense_Mutation_p.D1660H|PTPRB_ENST00000451516.2_Missense_Mutation_p.D1660H|RP11-588H23.3_ENST00000547656.1_RNA	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1750					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.D1750Y(2)|p.D1968Y(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGATCATCATCTACATTGGAG	0.478000													10	58					0	0	0.001368	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263342	140263342	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:140263342C>T	ENST00000289272.2	+	1	1489	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R497W|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGGAGCGGCGGGTGGG	0.662000													12	85					0	0	0.003954	0	0
CCDC146	57639	broad.mit.edu	37	7	76924175	76924175	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr7:76924175G>C	ENST00000285871.4	+	19	2987	c.2860G>C	c.(2860-2862)Gaa>Caa	p.E954Q	CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Missense_Mutation_p.E668Q	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	954										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AAAGCCAGTTGAAATCTGAAT	0.413000													4	27					0	0	0.009096	0	0
MID2	11043	broad.mit.edu	37	X	107169397	107169397	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chrX:107169397G>A	ENST00000262843.6	+	9	2219	c.1671G>A	c.(1669-1671)gaG>gaA	p.E557E	RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Silent_p.E527E	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	557	B30.2/SPRY.					centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGCAGATGGAGAAGGATGAAA	0.423000													19	51					0	0	0.008871	0	0
TLN1	7094	broad.mit.edu	37	9	35698089	35698089	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr9:35698089C>G	ENST00000314888.9	-	56	7805	c.7452G>C	c.(7450-7452)gaG>gaC	p.E2484D	TLN1_ENST00000540444.1_Missense_Mutation_p.E2372D	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2484	I/LWEQ.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGTCTCATTCTCCTGCTCTT	0.562000													15	93					0	0	0.004990	0	0
MED13L	23389	broad.mit.edu	37	12	116429339	116429339	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr12:116429339G>C	ENST00000281928.3	-	17	3626	c.3420C>G	c.(3418-3420)atC>atG	p.I1140M		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1140					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CCGCCCCTTTGATGTTCATGT	0.473000													16	70					0	0	0.006122	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999311	27999311	+	Silent	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chrX:27999311C>G	ENST00000441525.1	-	1	255	c.141G>C	c.(139-141)tcG>tcC	p.S47S		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	47										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CATCTCCGGTCGATGGCTCTG	0.532000													9	28					0	0	0.006214	0	0
TNN	63923	broad.mit.edu	37	1	175097823	175097823	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:175097823G>A	ENST00000239462.4	+	15	3384	c.3271G>A	c.(3271-3273)Gat>Aat	p.D1091N		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1091	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCTGCATGGCGATGCCAGCCG	0.602000													10	82					0	0	0.001368	0	0
FBN3	84467	broad.mit.edu	37	19	8137035	8137035	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:8137035G>A	ENST00000600128.1	-	63	8399	c.7985C>T	c.(7984-7986)cCg>cTg	p.P2662L	FBN3_ENST00000270509.2_Missense_Mutation_p.P2662L|FBN3_ENST00000601739.1_Missense_Mutation_p.P2662L			Q75N90	FBN3_HUMAN	fibrillin 3	2662						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTCTTTGTCCGGGGTGTCCTG	0.662000													29	172					0	0	0.002836	0	0
FAT1	2195	broad.mit.edu	37	4	187629184	187629184	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:187629184G>A	ENST00000441802.2	-	2	2007	c.1798C>T	c.(1798-1800)Cag>Tag	p.Q600*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	600	Cadherin 5.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGTACCAACTGAAGTTCATCT	0.408000										HNSCC(5;0.00058)			6	41					0	0	0.001168	0	0
FAM13A	10144	broad.mit.edu	37	4	89652580	89652580	+	Splice_Site	SNP	C	C	G	rs147595342	by1000genomes	TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:89652580C>G	ENST00000264344.5	-	23	3051		c.e23-1		FAM13A_ENST00000395002.2_Splice_Site|FAM13A_ENST00000513837.1_Splice_Site|FAM13A_ENST00000511976.1_Splice_Site|FAM13A_ENST00000508369.1_Splice_Site|FAM13A_ENST00000503556.1_Splice_Site	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GAGTTCAGGTCTAAGAGAGAG	0.398000													4	31					0	0	0.009096	0	0
C17orf77	146723	broad.mit.edu	37	17	72588192	72588192	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr17:72588192G>A	ENST00000392620.1	+	3	369	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	C17orf77_ENST00000328023.2_Missense_Mutation_p.E3K|CD300LD_ENST00000375352.1_Intron	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	3						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						ATGGATGGATGAATTGGCGCT	0.443000													19	139					0	0	0.002299	0	0
CCDC88A	55704	broad.mit.edu	37	2	55546086	55546086	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:55546086C>G	ENST00000436346.1	-	19	4058	c.3217G>C	c.(3217-3219)Gag>Cag	p.E1073Q	CCDC88A_ENST00000336838.6_Missense_Mutation_p.E1072Q|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E1072Q|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E1073Q|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1073					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTCTGTGTCTCAAGTTGCTTC	0.383000													4	53					0	0	0.000602	0	0
PIWIL2	55124	broad.mit.edu	37	8	22167484	22167484	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr8:22167484G>A	ENST00000356766.6	+	15	1845	c.1697G>A	c.(1696-1698)cGt>cAt	p.R566H	PIWIL2_ENST00000521356.1_Missense_Mutation_p.R566H|PIWIL2_ENST00000454009.2_Missense_Mutation_p.R566H	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	566					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		ATTGAAGGACGTGTTCTGCCA	0.383000													6	49					0	0	0.001984	0	0
RYR3	6263	broad.mit.edu	37	15	34131070	34131070	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr15:34131070G>A	ENST00000389232.4	+	89	12959	c.12889G>A	c.(12889-12891)Gaa>Aaa	p.E4297K	RYR3_ENST00000415757.3_Missense_Mutation_p.E4292K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4297					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCATGGGCCTGAAGTGGGTTT	0.458000													7	34					0	0	0.003080	0	0
TK2	7084	broad.mit.edu	37	16	66562953	66562953	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr16:66562953C>T	ENST00000299697.7	-	6	743	c.519G>A	c.(517-519)ttG>ttA	p.L173L	TK2_ENST00000417693.3_Silent_p.L113L|TK2_ENST00000544898.1_Silent_p.L82L|TK2_ENST00000451102.2_Silent_p.L131L|TK2_ENST00000564917.1_Silent_p.L131L|TK2_ENST00000545043.2_Silent_p.L106L|TK2_ENST00000527800.1_Silent_p.L34L|TK2_ENST00000525974.1_Silent_p.L34L|TK2_ENST00000563369.2_Silent_p.L34L|TK2_ENST00000527284.1_Silent_p.L100L	NM_001172644.1|NM_001172645.1|NM_001271934.1|NM_001271935.1|NM_001272050.1|NM_004614.4	NP_001166115.1|NP_001166116.1|NP_001258863.1|NP_001258864.1|NP_001258979.1|NP_004605.4	O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	131					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		ACCTCTCCATCAACCGTACAG	0.393000													16	76					0	0	0.004007	0	0
GNAS	2778	broad.mit.edu	37	20	57429096	57429096	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr20:57429096C>T	ENST00000371100.4	+	1	1328	c.776C>T	c.(775-777)gCg>gTg	p.A259V	GNAS_ENST00000371098.2_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.A259V|GNAS_ENST00000371102.4_Missense_Mutation_p.A259V|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.R196W|GNAS_ENST00000371075.3_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0			E -> V (in AHO).		activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCGGCAGTCGCGGCCTCGAGT	0.667000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			6	28					0	0	0.001168	0	0
BTBD16	118663	broad.mit.edu	37	10	124097537	124097537	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr10:124097537G>C	ENST00000368994.2	+	16	1712	c.1461G>C	c.(1459-1461)ttG>ttC	p.L487F	BTBD16_ENST00000260723.4_Missense_Mutation_p.L486F			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	486										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TTTAGACCTTGAAAATCCAAA	0.403000													6	38					0	0	0.001168	0	0
PRG4	10216	broad.mit.edu	37	1	186277112	186277112	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:186277112C>G	ENST00000445192.2	+	7	2306	c.2261C>G	c.(2260-2262)cCt>cGt	p.P754R	PRG4_ENST00000367485.4_Missense_Mutation_p.P661R|PRG4_ENST00000367486.3_Missense_Mutation_p.P711R|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.P713R	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	754	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCAACTACCCCTAAGGGGACT	0.602000													40	172					0	0	0.007835	0	0
KLHL20	27252	broad.mit.edu	37	1	173744918	173744918	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:173744918G>C	ENST00000209884.4	+	10	1711	c.1575G>C	c.(1573-1575)gaG>gaC	p.E525D	KLHL20_ENST00000546011.1_Missense_Mutation_p.E336D	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	525					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GCAGTGCTGAGAGATACAACC	0.507000													5	75					0	0	0.000602	0	0
PYGM	5837	broad.mit.edu	37	11	64521767	64521767	+	Silent	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:64521767C>G	ENST00000164139.3	-	9	1448	c.1050G>C	c.(1048-1050)ctG>ctC	p.L350L	PYGM_ENST00000377432.3_Silent_p.L262L	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	350					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GGATCCTCATCAGCTCGGGGA	0.632000													5	66					0	0	0.000602	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													3	165					0	0	0.004672	0	0
DNAJC11	55735	broad.mit.edu	37	1	6738499	6738499	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:6738499G>A	ENST00000377577.5	-	3	354	c.231C>T	c.(229-231)atC>atT	p.I77I	DNAJC11_ENST00000349363.6_Silent_p.I39I|DNAJC11_ENST00000294401.7_Silent_p.I77I|DNAJC11_ENST00000542246.1_Silent_p.I39I|DNAJC11_ENST00000377573.5_Intron	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	77	J.				protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		ATATATCATAGATGGCCCTGG	0.388000													11	48					0	0	0.008291	0	0
PLCH1	23007	broad.mit.edu	37	3	155200325	155200325	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:155200325G>A	ENST00000460012.1	-	23	3757	c.3400C>T	c.(3400-3402)Ctg>Ttg	p.L1134L	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Silent_p.L1172L|PLCH1_ENST00000334686.6_Silent_p.L1134L|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Silent_p.L1134L			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1172					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTCTCCTGCAGAATTGCAGTT	0.458000													8	42					0	0	0.008291	0	0
F2RL3	9002	broad.mit.edu	37	19	17000712	17000712	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:17000712G>C	ENST00000248076.3	+	2	768	c.438G>C	c.(436-438)gaG>gaC	p.E146D	F2RL3_ENST00000599210.1_3'UTR	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	146					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCTTCGGGGAGGCCGCCTGCC	0.706000													3	11					0	0	0.004672	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971028	21971028	+	Nonsense_Mutation	SNP	C	C	T	rs121913389		TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr9:21971028C>T	ENST00000304494.5	-	2	600	c.330G>A	c.(328-330)tgG>tgA	p.W110*	CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G166R|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G125R|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G125R	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.W110*(33)|p.H83fs*2(2)|p.G166R(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110C(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGACGGCCCCAGGCATCGC	0.736000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			10	23					0	0	0.006214	0	0
DGKQ	1609	broad.mit.edu	37	4	957073	957073	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:957073C>T	ENST00000273814.3	-	16	1813	c.1740G>A	c.(1738-1740)gcG>gcA	p.A580A	DGKQ_ENST00000502309.1_5'UTR	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	580					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGGGCAGCTTCGCGTGCTGAC	0.652000													10	38					0	0	0.008291	0	0
PRG4	10216	broad.mit.edu	37	1	186276565	186276565	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:186276565A>G	ENST00000445192.2	+	7	1759	c.1714A>G	c.(1714-1716)Acc>Gcc	p.T572A	PRG4_ENST00000367485.4_Missense_Mutation_p.T479A|PRG4_ENST00000367486.3_Missense_Mutation_p.T529A|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T531A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	572	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T572A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TGCACCCACCACCCCCAAGAA	0.642000													5	97					0	0	0.001168	0	0
COG1	9382	broad.mit.edu	37	17	71189326	71189326	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr17:71189326G>C	ENST00000299886.4	+	1	198	c.118G>C	c.(118-120)Gag>Cag	p.E40Q	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	40					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)			GGTTCGGGCCGAGATCGAGCA	0.687000													5	17					0	0	0.000602	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186793540	186793540	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:186793540C>T	ENST00000169298.3	+	8	1844	c.1170C>T	c.(1168-1170)atC>atT	p.I390I	ST6GAL1_ENST00000457772.2_Silent_p.I159I|ST6GAL1_ENST00000448044.1_Silent_p.I390I	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	390					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		ATGAGGACATCTACCTGCTTG	0.507000													5	81					0	0	0.001984	0	0
FAM35A	54537	broad.mit.edu	37	10	88946848	88946848	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr10:88946848G>A	ENST00000298786.4	+	9	2520	c.2406G>A	c.(2404-2406)gcG>gcA	p.A802A	FAM35A_ENST00000298784.1_Silent_p.A733A			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	733										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						GTAGGCCAGCGTTAATGACTG	0.353000													4	44					0	0	0.000602	0	0
ATR	545	broad.mit.edu	37	3	142285073	142285073	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:142285073G>C	ENST00000350721.4	-	3	303	c.182C>G	c.(181-183)tCt>tGt	p.S61C	ATR_ENST00000383101.3_Missense_Mutation_p.S61C	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	61					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GGTTGGCTGAGAGTCAGTTTT	0.378000								Other conserved DNA damage response genes					4	36					0	0	0.009096	0	0
PRKDC	5591	broad.mit.edu	37	8	48842538	48842538	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr8:48842538C>A	ENST00000314191.2	-	18	1983	c.1927G>T	c.(1927-1929)Gaa>Taa	p.E643*	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.E643*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	643					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ACCCATGGTTCAAAAAATTCT	0.318000								Non-homologous end-joining					5	80					5.9392e-07	6.35038e-07	0.001168	1	0
STK32A	202374	broad.mit.edu	37	5	146750271	146750271	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:146750271G>C	ENST00000397936.3	+	9	1048	c.715G>C	c.(715-717)Gag>Cag	p.E239Q	STK32A_ENST00000398523.3_Missense_Mutation_p.E239Q	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	239	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACACGTTTGAGACGACTGT	0.398000													9	131					0	0	0.006214	0	0
THAP9	79725	broad.mit.edu	37	4	83838784	83838784	+	Silent	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:83838784G>C	ENST00000302236.5	+	5	1470	c.1419G>C	c.(1417-1419)ctG>ctC	p.L473L	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	473							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATCATGTACTGAAAGTGAATA	0.388000													21	104					0	0	0.008871	0	0
CST9	128822	broad.mit.edu	37	20	23586433	23586433	+	Silent	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr20:23586433G>C	ENST00000376971.3	-	1	80	c.69C>G	c.(67-69)ctC>ctG	p.L23L		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	23						extracellular region	cysteine-type endopeptidase inhibitor activity			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					AAGTCACCAGGAGCTGGAAGC	0.532000													14	104					0	0	0.001855	0	0
ZFHX3	463	broad.mit.edu	37	16	72984803	72984803	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr16:72984803C>T	ENST00000268489.5	-	3	3453	c.2781G>A	c.(2779-2781)ctG>ctA	p.L927L	ZFHX3_ENST00000397992.5_Silent_p.L13L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	927					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCAGGTTCATCAGCTCCTCTG	0.617000													10	58					0	0	0.006214	0	0
COL16A1	1307	broad.mit.edu	37	1	32165443	32165443	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:32165443C>T	ENST00000373672.3	-	4	753	c.237G>A	c.(235-237)ctG>ctA	p.L79L	COL16A1_ENST00000373668.3_Silent_p.L79L|COL16A1_ENST00000271069.6_Silent_p.L79L	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	79	TSP N-terminal.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GGGCCGCCCCCAGGCGCAGGA	0.592000													14	83					0	0	0.002450	0	0
MALT1	10892	broad.mit.edu	37	18	56402442	56402442	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr18:56402442G>C	ENST00000348428.3	+	13	1742	c.1484G>C	c.(1483-1485)gGa>gCa	p.G495A	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.G484A	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	495	Caspase-like.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						aggtGTCAAGGAGCAGAAGCT	0.323000			T	BIRC3	MALT								4	22					0	0	0.009096	0	0
PRG4	10216	broad.mit.edu	37	1	186276564	186276564	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:186276564C>T	ENST00000445192.2	+	7	1758	c.1713C>T	c.(1711-1713)acC>acT	p.T571T	PRG4_ENST00000367485.4_Silent_p.T478T|PRG4_ENST00000367486.3_Silent_p.T528T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T530T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	571	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T571T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTGCACCCACCACCCCCAAGA	0.642000													4	106					0	0	0.000602	0	0
KIAA1958	158405	broad.mit.edu	37	9	115422154	115422154	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr9:115422154C>T	ENST00000337530.6	+	4	2252	c.1956C>T	c.(1954-1956)ttC>ttT	p.F652F	KIAA1958_ENST00000536272.1_Silent_p.F680F	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	652										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						AGTCCCCCTTCTACCTGACTG	0.577000													6	35					0	0	0.001168	0	0
ZGLP1	100125288	broad.mit.edu	37	19	10415872	10415872	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:10415872G>A	ENST00000403903.3	-	4	1909	c.711C>T	c.(709-711)taC>taT	p.Y237Y	ZGLP1_ENST00000403352.1_Silent_p.Y153Y	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	237					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						AGCGAGTGCCGTATTTCTTGT	0.562000													8	46					0	0	0.004482	0	0
RELL2	285613	broad.mit.edu	37	5	141019745	141019745	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:141019745G>A	ENST00000297164.3	+	5	1962	c.762G>A	c.(760-762)ggG>ggA	p.G254G	RELL2_ENST00000444782.1_Silent_p.G254G|FCHSD1_ENST00000523856.1_5'UTR|RELL2_ENST00000518856.1_Silent_p.G188G|RELL2_ENST00000521367.1_Silent_p.G188G|RELL2_ENST00000518025.1_3'UTR|FCHSD1_ENST00000435817.2_3'UTR	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	254						integral to membrane|plasma membrane				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTTGAAGGGAACCCCAGAG	0.647000													4	58					0	0	0.009096	0	0
EPHA4	2043	broad.mit.edu	37	2	222298867	222298867	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:222298867G>A	ENST00000281821.2	-	14	2532	c.2491C>T	c.(2491-2493)Caa>Taa	p.Q831*	EPHA4_ENST00000409938.1_Nonsense_Mutation_p.Q831*|EPHA4_ENST00000392071.4_Nonsense_Mutation_p.Q780*|EPHA4_ENST00000409854.1_Nonsense_Mutation_p.Q831*	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	831	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CTTACATCTTGATTGGACATA	0.408000													9	70					0	0	0.004482	0	0
FAM3A	60343	broad.mit.edu	37	X	153735753	153735753	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chrX:153735753C>T	ENST00000434658.2	-	6	872	c.403G>A	c.(403-405)Gac>Aac	p.D135N	FAM3A_ENST00000369641.3_Missense_Mutation_p.D159N|FAM3A_ENST00000447601.2_Missense_Mutation_p.D152N|FAM3A_ENST00000359889.5_Missense_Mutation_p.D152N|FAM3A_ENST00000393572.1_Missense_Mutation_p.D114N|FAM3A_ENST00000369643.1_Missense_Mutation_p.D152N	NM_001171134.1	NP_001164605.1	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A	152						extracellular region				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTGGGTCGTCGTAGGATGCC	0.602000													8	16					0	0	0.003080	0	0
RUFY3	22902	broad.mit.edu	37	4	71628306	71628306	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:71628306G>C	ENST00000226328.4	+	2	812	c.249G>C	c.(247-249)ttG>ttC	p.L83F	RUFY3_ENST00000536664.1_Missense_Mutation_p.L67F|RUFY3_ENST00000381006.3_Missense_Mutation_p.L83F|RUFY3_ENST00000417478.2_Missense_Mutation_p.L143F|RUFY3_ENST00000502653.1_Missense_Mutation_p.L30F	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	83					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)			TCAAGGGCTTGATTGAATCAG	0.473000													29	200					0	0	0.005443	0	0
PNKD	25953	broad.mit.edu	37	2	219204763	219204763	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:219204763C>A	ENST00000273077.4	+	4	415	c.364C>A	c.(364-366)Ctt>Att	p.L122I	PNKD_ENST00000258362.3_Missense_Mutation_p.L98I|PNKD_ENST00000436005.2_Missense_Mutation_p.L62I|AC021016.8_ENST00000411433.1_RNA	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	122						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGTGAAGGTGCTTCCCATCCC	0.652000													13	63					0.000151284	0.000161138	0.001855	1	0
NLRP7	199713	broad.mit.edu	37	19	55450689	55450689	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:55450689C>T	ENST00000446217.1	-	6	1984	c.1582G>A	c.(1582-1584)Gta>Ata	p.V528I	NLRP7_ENST00000592784.1_Missense_Mutation_p.V500I|NLRP7_ENST00000590030.1_Missense_Mutation_p.V500I|NLRP7_ENST00000588756.1_Missense_Mutation_p.V500I|NLRP7_ENST00000340844.2_Missense_Mutation_p.V500I|NLRP7_ENST00000328092.5_Missense_Mutation_p.V500I|NLRP7_ENST00000448121.2_Missense_Mutation_p.V500I			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	500							ATP binding	p.V500I(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGCTTCTGTACGTCCCCGATG	0.567000													11	72					0	0	0.010729	0	0
DST	667	broad.mit.edu	37	6	56374648	56374648	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr6:56374648G>A	ENST00000370754.5	-	74	18710	c.18711C>T	c.(18709-18711)atC>atT	p.I6237I	DST_ENST00000370769.4_Silent_p.I6059I|DST_ENST00000340834.4_5'UTR|DST_ENST00000421834.2_Silent_p.I3971I|DST_ENST00000370788.2_Silent_p.I3862I|DST_ENST00000446842.2_Silent_p.I5733I|DST_ENST00000361203.3_Silent_p.I5948I|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Silent_p.I3645I			Q03001	DYST_HUMAN	dystonin	6057					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGCTCTCAAGGATCTGATCTA	0.398000													5	45					0	0	0.000602	0	0
ASB2	51676	broad.mit.edu	37	14	94417555	94417555	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr14:94417555G>C	ENST00000555019.1	-	6	1100	c.670C>G	c.(670-672)Ctg>Gtg	p.L224V	ASB2_ENST00000315988.4_Missense_Mutation_p.L176V|ASB2_ENST00000556337.1_Intron	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	176				Missing (in Ref. 7; AAD45345).	intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TGCTGCACCAGAATCTTCACG	0.622000													5	57					0	0	0.003080	0	0
RIC8B	55188	broad.mit.edu	37	12	107245315	107245315	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr12:107245315G>A	ENST00000392837.4	+	7	1400	c.1249G>A	c.(1249-1251)Gac>Aac	p.D417N	RIC8B_ENST00000392839.2_Missense_Mutation_p.D417N|RIC8B_ENST00000355478.2_Missense_Mutation_p.D377N|RIC8B_ENST00000549643.1_Intron			Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	417					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						GACACATGTTGACCTTGGAGT	0.448000													6	68					0	0	0.001168	0	0
ZNF423	23090	broad.mit.edu	37	16	49672763	49672763	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr16:49672763G>A	ENST00000561648.1	-	4	353	c.300C>T	c.(298-300)ctC>ctT	p.L100L	ZNF423_ENST00000562520.1_Silent_p.L40L|ZNF423_ENST00000563137.2_Silent_p.L40L|ZNF423_ENST00000535559.1_5'UTR|ZNF423_ENST00000262383.2_Silent_p.L100L|ZNF423_ENST00000562871.1_Silent_p.L40L|ZNF423_ENST00000567169.1_5'UTR	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	100					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CCACCCAGGAGAGTTGTGGGT	0.587000													6	45					0	0	0.003080	0	0
TTC33	23548	broad.mit.edu	37	5	40747077	40747077	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:40747077G>C	ENST00000337702.4	-	2	196	c.44C>G	c.(43-45)tCa>tGa	p.S15*	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	15							binding			NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						AGTGACCTTTGAGACCTTCTC	0.388000													6	46					0	0	0.001984	0	0
C3	718	broad.mit.edu	37	19	6697749	6697749	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:6697749G>A	ENST00000245907.6	-	20	2589	c.2497C>T	c.(2497-2499)Ctg>Ttg	p.L833L		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	833					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGTAGCCGCAGGTCGATGAAG	0.567000													3	33					0	0	0.004672	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102552205	102552205	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr14:102552205G>A	ENST00000334701.7	-	4	1066	c.785C>T	c.(784-786)tCt>tTt	p.S262F	HSP90AA1_ENST00000216281.8_Missense_Mutation_p.S140F|HSP90AA1_ENST00000441629.2_Intron	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	140					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	CAAATAAGCAGAATAAAAACC	0.473000													16	52					0	0	0.003163	0	0
GUF1	60558	broad.mit.edu	37	4	44700691	44700691	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:44700691C>G	ENST00000281543.5	+	17	2197	c.2003C>G	c.(2002-2004)tCt>tGt	p.S668C	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	668					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						ACACAATCTTCTAAATAATTG	0.308000													9	26					0	0	0.006214	0	0
CCDC144A	9720	broad.mit.edu	37	17	16594003	16594003	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr17:16594003G>C	ENST00000443444.2	+	1	429	c.289G>C	c.(289-291)Gag>Cag	p.E97Q	CCDC144A_ENST00000456009.1_Missense_Mutation_p.E97Q|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.E97Q|CCDC144A_ENST00000360524.8_Missense_Mutation_p.E97Q|CCDC144A_ENST00000340621.5_Missense_Mutation_p.E97Q|CCDC144A_ENST00000399273.1_Missense_Mutation_p.E97Q|CCDC144A_ENST00000436374.1_3'UTR			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	97																	CCCTGGGGTGGAGCACATCTT	0.647000													69	197					0	0	0.003610	0	0
TRIM68	55128	broad.mit.edu	37	11	4622349	4622349	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:4622349G>C	ENST00000300747.5	-	6	1104	c.815C>G	c.(814-816)tCt>tGt	p.S272C		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	272					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	p.S272F(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CAAGCTCCAAGATTTGCTCCT	0.547000													12	95					0	0	0.001368	0	0
SLC2A7	155184	broad.mit.edu	37	1	9067373	9067373	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:9067373C>T	ENST00000400906.1	-	10	1187	c.1188G>A	c.(1186-1188)ggG>ggA	p.G396G		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	396						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		ACTCACTGGGCCCAATGGAAT	0.602000													4	53					0	0	0.000602	0	0
DPP3	10072	broad.mit.edu	37	11	66272236	66272236	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:66272236C>T	ENST00000532677.1	+	17	2490	c.2089C>T	c.(2089-2091)Cgc>Tgc	p.R697C	DPP3_ENST00000360510.2_Missense_Mutation_p.R678C|DPP3_ENST00000453114.1_Missense_Mutation_p.R678C|DPP3_ENST00000541961.1_Missense_Mutation_p.R678C|DPP3_ENST00000531863.1_Missense_Mutation_p.R698C|DPP3_ENST00000530165.1_Missense_Mutation_p.R648C	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	678				I -> Y (in Ref. 4; BAA75785).	proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GCCCAACACTCGCCTTGAAGG	0.567000													19	101					0	0	0.010504	0	0
FAM179B	23116	broad.mit.edu	37	14	45432505	45432505	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr14:45432505C>G	ENST00000361462.2	+	1	1064	c.881C>G	c.(880-882)tCt>tGt	p.S294C	FAM179B_ENST00000361577.3_Missense_Mutation_p.S294C|FAM179B_ENST00000382233.2_Missense_Mutation_p.S294C			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	294							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AGGTTTCAATCTTACATTTCT	0.498000													20	89					0	0	0.008871	0	0
DDX11L1	100287102	broad.mit.edu	37	1	13501	13501	+	RNA	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:13501G>A	ENST00000456328.2	+	0	749					NR_046018.2|NR_051986.1																						ACCACTGCCTGGCGCTGTGCC	0.582000													5	86					0	0	0.000602	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147869376	147869376	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr7:147869376C>T	ENST00000361727.3	+	18	3332	c.2816C>T	c.(2815-2817)tCc>tTc	p.S939F	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	939	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGCATCCGCTCCTTGAGGATG	0.542000										HNSCC(39;0.1)			10	65					0	0	0.006214	0	0
TACSTD2	4070	broad.mit.edu	37	1	59042150	59042150	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:59042150C>T	ENST00000371225.2	-	1	1016	c.679G>A	c.(679-681)Gag>Aag	p.E227K		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	227					cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity					all_cancers(7;6.54e-05)					ATGTCCCTCTCGAAGTAGTAG	0.632000													4	20					0	0	0.009096	0	0
UNC80	285175	broad.mit.edu	37	2	210658580	210658580	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:210658580C>T	ENST00000439458.1	+	7	1015	c.935C>T	c.(934-936)tCc>tTc	p.S312F	UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.S312F	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	312						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						CCATCACATTCCAGGTACCTG	0.443000													6	47					0	0	0.001168	0	0
ASXL3	80816	broad.mit.edu	37	18	31318686	31318686	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr18:31318686G>A	ENST00000269197.5	+	11	1318	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATTGGAGTCAGAGGATATCTT	0.413000													13	49					0	0	0.003163	0	0
AOX1	316	broad.mit.edu	37	2	201534448	201534448	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:201534448G>A	ENST00000374700.2	+	34	4190	c.3949G>A	c.(3949-3951)Gac>Aac	p.D1317N	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1317					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GGCCTGTGAAGACAAGTTCAC	0.448000													17	114					0	0	0.006122	0	0
C7orf63	79846	broad.mit.edu	37	7	89939442	89939442	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr7:89939442C>T	ENST00000389297.4	+	23	2967	c.2716C>T	c.(2716-2718)Ctg>Ttg	p.L906L	C7orf63_ENST00000497910.1_Silent_p.L888L|C7orf63_ENST00000316089.8_Silent_p.L860L	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	906							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AGGAGGACCTCTGGTTGATAC	0.433000													6	74					0	0	0.001168	0	0
BTF3	689	broad.mit.edu	37	5	72798854	72798854	+	Silent	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:72798854G>C	ENST00000380591.3	+	4	648	c.429G>C	c.(427-429)ctG>ctC	p.L143L	BTF3_ENST00000514505.2_3'UTR|BTF3_ENST00000335895.8_Silent_p.L99L	NM_001037637.1	NP_001032726.1	P20290	BTF3_HUMAN	basic transcription factor 3	143	NAC-A/B.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding			endometrium(1)|large_intestine(2)|lung(2)	5		Lung NSC(167;0.00405)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)		CAAAGCAGCTGACAGAAATGC	0.473000													15	86					0	0	0.002450	0	0
ATR	545	broad.mit.edu	37	3	142241603	142241603	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:142241603G>A	ENST00000350721.4	-	23	4354	c.4233C>T	c.(4231-4233)agC>agT	p.S1411S	ATR_ENST00000383101.3_Silent_p.S1347S	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1411					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CTTGAGCTCGGCTATTATCAG	0.358000								Other conserved DNA damage response genes					42	121					0	0	0.007835	0	0
PSORS1C2	170680	broad.mit.edu	37	6	31106763	31106763	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr6:31106763C>A	ENST00000259845.4	-	1	364	c.41G>T	c.(40-42)tGc>tTc	p.C14F	PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000481450.2_Intron|PSORS1C1_ENST00000547221.1_Intron	NM_014069.2	NP_054788.2	Q9UIG4	PS1C2_HUMAN	psoriasis susceptibility 1 candidate 2	14						extracellular region				NS(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GGTGTGCAGGCAAAGGACCAG	0.597000													10	51					0.00829132	0.00866536	0.008291	1	0
DOPEY1	23033	broad.mit.edu	37	6	83810518	83810518	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr6:83810518G>C	ENST00000349129.2	+	4	493	c.233G>C	c.(232-234)gGa>gCa	p.G78A	DOPEY1_ENST00000237163.5_Missense_Mutation_p.G78A|DOPEY1_ENST00000369739.3_Missense_Mutation_p.G78A|DOPEY1_ENST00000536812.1_Missense_Mutation_p.G78A	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	78					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TTACCAGGTGGAGTTCATCGG	0.363000													26	181					0	0	0.006320	0	0
HSD17B4	3295	broad.mit.edu	37	5	118832266	118832266	+	Silent	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:118832266G>C	ENST00000504811.1	+	13	1156	c.972G>C	c.(970-972)ctG>ctC	p.L324L	HSD17B4_ENST00000509514.1_Silent_p.L37L|HSD17B4_ENST00000414835.2_Silent_p.L159L|HSD17B4_ENST00000513628.1_Silent_p.L162L|HSD17B4_ENST00000515320.1_Silent_p.L281L|HSD17B4_ENST00000256216.6_Silent_p.L299L|HSD17B4_ENST00000510025.1_Silent_p.L275L	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	299	Enoyl-CoA hydratase 2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	TTGAAGTTCTGAGTAAAATAG	0.333000													8	115					0	0	0.004482	0	0
ANO5	203859	broad.mit.edu	37	11	22301307	22301307	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:22301307T>C	ENST00000324559.8	+	22	3055	c.2738T>C	c.(2737-2739)cTc>cCc	p.L913P		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	913						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAATCAACACTCTAATCAGTA	0.408000													5	22					0	0	0.000602	0	0
AKAP11	11215	broad.mit.edu	37	13	42873613	42873613	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr13:42873613C>T	ENST00000025301.2	+	8	906	c.731C>T	c.(730-732)tCa>tTa	p.S244L		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	244	Ser-rich.				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CAGCAGAAGTCATTGGCTAAA	0.443000													15	56					0	0	0.002450	0	0
FLG	2312	broad.mit.edu	37	1	152284258	152284258	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:152284258G>C	ENST00000368799.1	-	3	3139	c.3104C>G	c.(3103-3105)tCc>tGc	p.S1035C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1035	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGTGGCGGGATCCGTGTCT	0.567000									Ichthyosis				41	651					0	0	0.007835	0	0
AFF2	2334	broad.mit.edu	37	X	148059934	148059934	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chrX:148059934G>A	ENST00000370460.2	+	18	3998	c.3519G>A	c.(3517-3519)ctG>ctA	p.L1173L	AFF2_ENST00000286437.5_Silent_p.L814L|AFF2_ENST00000370457.5_Silent_p.L1138L|AFF2_ENST00000342251.3_Silent_p.L1140L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1173					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGTTTAAGCTGAAGAAGGACC	0.348000													10	43					0	0	0.006214	0	0
CDH24	64403	broad.mit.edu	37	14	23523465	23523465	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr14:23523465G>A	ENST00000397359.3	-	6	1116	c.857C>T	c.(856-858)cCa>cTa	p.P286L	CDH24_ENST00000487137.2_Missense_Mutation_p.P286L|CDH24_ENST00000267383.5_Missense_Mutation_p.P286L|CDH24_ENST00000554034.1_Missense_Mutation_p.P286L	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	286	Cadherin 3.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CCCCAGGTCTGGGTCCTGGGC	0.637000													35	164					0	0	0.003271	0	0
COL17A1	1308	broad.mit.edu	37	10	105814753	105814753	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr10:105814753C>G	ENST00000353479.5	-	20	2020	c.1730G>C	c.(1729-1731)aGt>aCt	p.S577T	COL17A1_ENST00000369733.3_Missense_Mutation_p.S577T	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	577	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGGGCCTGGACTTCCCATGTC	0.383000													3	26					0	0	0.004672	0	0
PMCH	5367	broad.mit.edu	37	12	102591364	102591364	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr12:102591364G>T	ENST00000329406.4	-	1	259	c.185C>A	c.(184-186)tCc>tAc	p.S62Y		NM_002674.2	NP_002665.2	P20382	MCH_HUMAN	pro-melanin-concentrating hormone	62					cell differentiation|neuropeptide signaling pathway|spermatogenesis|synaptic transmission		melanin-concentrating hormone activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	6						TTGTTCCAGGGAAGGAGCAAT	0.353000													10	39					0.00621372	0.00651854	0.006214	1	0
SON	6651	broad.mit.edu	37	21	34923116	34923116	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr21:34923116C>T	ENST00000356577.4	+	3	2054	c.1579C>T	c.(1579-1581)Cat>Tat	p.H527Y	SON_ENST00000300278.4_Missense_Mutation_p.H527Y|SON_ENST00000290239.6_Missense_Mutation_p.H527Y|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.H527Y	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	527					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						ACATCCTGGGCATCCTGAGGT	0.592000													21	125					0	0	0.008871	0	0
HAUS3	79441	broad.mit.edu	37	4	2242704	2242704	+	Translation_Start_Site	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:2242704G>C	ENST00000243706.4	-	0	199				HAUS3_ENST00000506763.1_De_novo_Start_InFrame|POLN_ENST00000515357.1_Intron|HAUS3_ENST00000443786.2_De_novo_Start_InFrame|POLN_ENST00000511885.2_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3						cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TGTTGTATCTGATATGGGTTT	0.308000													14	46					0	0	0.002450	0	0
KIAA1324	57535	broad.mit.edu	37	1	109714534	109714534	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:109714534G>A	ENST00000369939.3	+	4	697	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	KIAA1324_ENST00000529753.1_Missense_Mutation_p.E172K	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	172					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		p.E172K(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CAACACGGACGAATGCACAGC	0.532000													17	71					0	0	0.004990	0	0
RNF219	79596	broad.mit.edu	37	13	79209281	79209281	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr13:79209281C>T	ENST00000282003.6	-	5	660	c.602G>A	c.(601-603)cGa>cAa	p.R201Q		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	201							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		AGCCTTCAGTCGTAAATTCTC	0.343000													7	50					0	0	0.004482	0	0
REV3L	5980	broad.mit.edu	37	6	111696128	111696128	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr6:111696128C>T	ENST00000435970.1	-	15	4012	c.3196G>A	c.(3196-3198)Gaa>Aaa	p.E1066K	REV3L_ENST00000368805.1_Missense_Mutation_p.E1144K|REV3L_ENST00000358835.3_Missense_Mutation_p.E1144K|REV3L_ENST00000368802.3_Missense_Mutation_p.E1144K			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1144					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GCCTCTTTTTCTGCAGCAGCC	0.418000								DNA polymerases (catalytic subunits)					15	117					0	0	0.003163	0	0
OR8B4	283162	broad.mit.edu	37	11	124294739	124294739	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:124294739G>A	ENST00000356130.3	-	1	50	c.29C>T	c.(28-30)aCt>aTt	p.T10I		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GATAAACTCAGTCACTGAGGA	0.488000													6	45					0	0	0.001168	0	0
KIAA2026	158358	broad.mit.edu	37	9	5921788	5921788	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr9:5921788G>C	ENST00000399933.3	-	8	4207	c.4208C>G	c.(4207-4209)tCt>tGt	p.S1403C	KIAA2026_ENST00000381461.2_Missense_Mutation_p.S1373C	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1403	Ser-rich.							p.S1403Y(1)|p.S578Y(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TAGAGTACTAGAACAAATAGA	0.393000													15	92					0	0	0.004007	0	0
WIPF1	7456	broad.mit.edu	37	2	175432655	175432655	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:175432655C>G	ENST00000392547.2	-	6	1375	c.1276G>C	c.(1276-1278)Ggg>Cgg	p.G426R	AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000467149.1_5'UTR|WIPF1_ENST00000409891.1_Missense_Mutation_p.G426R|WIPF1_ENST00000392546.2_Missense_Mutation_p.G426R|WIPF1_ENST00000272746.5_Missense_Mutation_p.G426R|WIPF1_ENST00000359761.3_Missense_Mutation_p.G426R|AC018890.6_ENST00000442996.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	426	Pro-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GGAGGTGCCCCAGCACTGGGC	0.602000													10	64					0	0	0.008291	0	0
ESYT3	83850	broad.mit.edu	37	3	138187688	138187688	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:138187688G>A	ENST00000389567.4	+	14	1585	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	467	C2 2.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CCTGAATGGTGAATATCGAGC	0.463000													44	363					0	0	0.013114	0	0
LAMA2	3908	broad.mit.edu	37	6	129714246	129714246	+	Missense_Mutation	SNP	A	A	G	rs141950826		TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr6:129714246A>G	ENST00000421865.2	+	37	5340	c.5291A>G	c.(5290-5292)gAa>gGa	p.E1764G		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1764	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.E1764G(2)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCCCGGGGGGAAAATGAAGAA	0.453000													3	73					0	0	0.004672	0	0
SF3B2	10992	broad.mit.edu	37	11	65829169	65829169	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:65829169G>A	ENST00000528302.1	+	14	1795	c.1741G>A	c.(1741-1743)Gag>Aag	p.E581K	SF3B2_ENST00000322535.6_Missense_Mutation_p.E598K			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	598					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GAAGGAGTTCGAGACACGACT	0.498000													8	35					0	0	0.004482	0	0
HBP1	26959	broad.mit.edu	37	7	106826264	106826264	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr7:106826264C>T	ENST00000222574.4	+	4	603	c.417C>T	c.(415-417)atC>atT	p.I139I	HBP1_ENST00000468410.1_Silent_p.I139I|HBP1_ENST00000485846.1_Silent_p.I139I	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	139					cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						CTGTACACATCATAGCCACTA	0.403000													18	133					0	0	0.007413	0	0
CTSF	8722	broad.mit.edu	37	11	66335085	66335085	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:66335085G>A	ENST00000310325.5	-	3	470	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W	CTSF_ENST00000533168.1_5'UTR	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	121					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGTCCTTCCGCAGCAGCACG	0.592000													12	135					0	0	0.010729	0	0
SYNE1	23345	broad.mit.edu	37	6	152557387	152557387	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr6:152557387C>G	ENST00000367255.5	-	110	20852	c.20251G>C	c.(20251-20253)Gat>Cat	p.D6751H	SYNE1_ENST00000341594.5_Missense_Mutation_p.D6363H|SYNE1_ENST00000448038.1_Missense_Mutation_p.D6680H|SYNE1_ENST00000265368.4_Missense_Mutation_p.D6751H|SYNE1_ENST00000423061.1_Missense_Mutation_p.D6680H|SYNE1_ENST00000356820.4_Missense_Mutation_p.D1275H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6751					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCCCATCATCTAATACTTGA	0.328000										HNSCC(10;0.0054)			5	50					0	0	0.000602	0	0
MDC1	9656	broad.mit.edu	37	6	30671732	30671732	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr6:30671732G>C	ENST00000376406.3	-	10	5875	c.5228C>G	c.(5227-5229)tCt>tGt	p.S1743C	MDC1_ENST00000376405.2_Missense_Mutation_p.S1479C|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1743	Required for nuclear localization (NLS2).				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						CAAGGGTGCAGAGCAAGGCTT	0.562000								Other conserved DNA damage response genes					19	66					0	0	0.006122	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869389	36869389	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr20:36869389C>G	ENST00000279024.4	-	3	1415	c.1144G>C	c.(1144-1146)Gac>Cac	p.D382H		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	382										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GAGGCACAGTCCAGTGCGTCC	0.547000													30	172					0	0	0.009535	0	0
HGS	9146	broad.mit.edu	37	17	79663007	79663007	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr17:79663007C>T	ENST00000329138.4	+	15	1506	c.1371C>T	c.(1369-1371)ctC>ctT	p.L457L		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	457	Interaction with SNAP25 and TRAK2 (By similarity).|Interaction with SNX1 (By similarity).|Interaction with STAM1 (By similarity).				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TGGAGCTGCTCAACCAGCTGG	0.672000													4	49					0	0	0.009096	0	0
HECW1	23072	broad.mit.edu	37	7	43531746	43531746	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr7:43531746C>G	ENST00000395891.1	+	18	3912	c.3307C>G	c.(3307-3309)Cga>Gga	p.R1103G	HECW1_ENST00000453890.1_Missense_Mutation_p.R1069G	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1103					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGCTGCTATTCGAAGCCAACA	0.423000													9	73					0	0	0.004482	0	0
LRP2	4036	broad.mit.edu	37	2	170101261	170101261	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:170101261C>T	ENST00000263816.3	-	22	3657	c.3372G>A	c.(3370-3372)aaG>aaA	p.K1124K	LRP2_ENST00000443831.1_Silent_p.K987K	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1124	LDL-receptor class A 10.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGACCCAGTTCTTTGAGATAC	0.493000													20	114					0	0	0.007413	0	0
RTP1	132112	broad.mit.edu	37	3	186917561	186917561	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:186917561C>G	ENST00000312295.4	+	2	525	c.495C>G	c.(493-495)tgC>tgG	p.C165W	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	165					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GCGAGCAGTGCTACGGCGAGC	0.687000													21	29					0	0	0.008871	0	0
RIC8B	55188	broad.mit.edu	37	12	107245264	107245264	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr12:107245264G>A	ENST00000392837.4	+	7	1349	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	RIC8B_ENST00000392839.2_Missense_Mutation_p.E400K|RIC8B_ENST00000355478.2_Missense_Mutation_p.E360K|RIC8B_ENST00000549643.1_Intron			Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	400					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						AAATCGACCTGAAGTTGGCTC	0.448000													8	76					0	0	0.003080	0	0
REEP5	7905	broad.mit.edu	37	5	112256898	112256898	+	Silent	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:112256898G>C	ENST00000379638.4	-	2	522	c.174C>G	c.(172-174)ctC>ctG	p.L58L	REEP5_ENST00000545426.1_Silent_p.L58L|REEP5_ENST00000513339.1_Silent_p.L58L|REEP5_ENST00000504247.1_Silent_p.L58L|REEP5_ENST00000474542.2_5'UTR	NM_005669.4	NP_005660.4	Q00765	REEP5_HUMAN	receptor accessory protein 5	58						integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		TCAGGTTGCAGAGGAGAGAGG	0.597000													7	43					0	0	0.003080	0	0
C6	729	broad.mit.edu	37	5	41203191	41203191	+	Splice_Site	SNP	T	T	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:41203191T>C	ENST00000263413.3	-	2	406	c.143_splice	c.e2+1	p.R48_splice	C6_ENST00000337836.5_Splice_Site_p.R48_splice	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	48	TSP type-1 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CACACCCACCTGTGTCTGCTC	0.478000													6	238					0	0	0.001168	0	0
XKR8	55113	broad.mit.edu	37	1	28293631	28293631	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:28293631C>A	ENST00000373884.5	+	3	1716	c.1108C>A	c.(1108-1110)Cag>Aag	p.Q370K		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	370						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		TCAGCTGCCTCAGAACAGGCG	0.577000													10	71					9.70103e-10	1.0453e-09	0.008291	1	0
C3orf79	152118	broad.mit.edu	37	3	153202424	153202424	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:153202424C>G	ENST00000446603.2	+	1	141	c.79C>G	c.(79-81)Ctt>Gtt	p.L27V	RP11-23D24.2_ENST00000493214.2_RNA	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79	27										endometrium(1)|large_intestine(3)	4						CAGTTGCCATCTTCTGCCTAC	0.413000													19	236					0	0	0.006122	0	0
EMR2	30817	broad.mit.edu	37	19	14884783	14884783	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:14884783C>T	ENST00000315576.3	-	4	617	c.166G>A	c.(166-168)Gag>Aag	p.E56K	EMR2_ENST00000353876.1_Missense_Mutation_p.E56K|EMR2_ENST00000594076.1_Missense_Mutation_p.E56K|EMR2_ENST00000594294.1_Missense_Mutation_p.E56K|EMR2_ENST00000346057.1_Missense_Mutation_p.E56K|EMR2_ENST00000601345.1_Missense_Mutation_p.E56K|EMR2_ENST00000392965.3_Missense_Mutation_p.E56K|EMR2_ENST00000595839.1_Missense_Mutation_p.E56K|EMR2_ENST00000599423.1_5'UTR|EMR2_ENST00000353005.1_Missense_Mutation_p.E56K|EMR2_ENST00000596991.2_Missense_Mutation_p.E56K|EMR2_ENST00000392967.2_Missense_Mutation_p.E56K	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	56	EGF-like 1.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GTGATGATCTCAGAAAAAGAG	0.602000													29	109					0	0	0.007291	0	0
RBM28	55131	broad.mit.edu	37	7	127961459	127961459	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr7:127961459G>C	ENST00000223073.1	-	14	1537	c.1423C>G	c.(1423-1425)Cag>Gag	p.Q475E	RBM28_ENST00000415472.2_Missense_Mutation_p.Q334E|RBM28_ENST00000481788.1_5'UTR	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	475					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TTGAGTTTCTGATGCTTCAGC	0.433000													6	47					0	0	0.001984	0	0
TGM6	343641	broad.mit.edu	37	20	2378615	2378615	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr20:2378615G>A	ENST00000202625.2	+	5	656	c.595G>A	c.(595-597)Ggt>Agt	p.G199S	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Missense_Mutation_p.G199S	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	199					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TCGAAGCCCCGGTCACCAAAA	0.587000													6	69					0	0	0.001984	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146536831	146536831	+	Silent	SNP	C	C	T	rs145162968		TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr7:146536831C>T	ENST00000361727.3	+	3	753	c.237C>T	c.(235-237)agC>agT	p.S79S		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	79	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CATCAGACAGCGACCATTATC	0.448000										HNSCC(39;0.1)			11	54					0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179414566	179414566	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr2:179414566C>T	ENST00000589042.1	-	338	92107	c.91883G>A	c.(91882-91884)aGa>aAa	p.R30628K	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R28987K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R21563K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R21688K|TTN_ENST00000342992.6_Missense_Mutation_p.R28060K|TTN_ENST00000342175.6_Missense_Mutation_p.R21755K|RP11-65L3.2_ENST00000603415.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28987	Fibronectin type-III 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)			ATTGGTGAATCTTATTGGCCC	0.403000													5	109					0	0	0.000602	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317105	30317105	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr10:30317105C>G	ENST00000375377.1	-	3	2073	c.1972G>C	c.(1972-1974)Gac>Cac	p.D658H		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	658										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTTTGTCTGTCTTCTTCTGGT	0.517000													8	51					0	0	0.004482	0	0
PAK7	57144	broad.mit.edu	37	20	9520219	9520219	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr20:9520219C>G	ENST00000378429.3	-	11	2596	c.2050G>C	c.(2050-2052)Gag>Cag	p.E684Q	PAK7_ENST00000353224.5_Missense_Mutation_p.E684Q|PAK7_ENST00000378423.1_Missense_Mutation_p.E684Q	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	684	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGAGAGGGCTCCCTCACCAAC	0.507000													26	152					0	0	0.008361	0	0
LAMC1	3915	broad.mit.edu	37	1	183106903	183106903	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:183106903G>C	ENST00000258341.4	+	26	4671	c.4414G>C	c.(4414-4416)Gaa>Caa	p.E1472Q		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1472	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.E1472*(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCAGGAAGCAGAAAAAGAGCT	0.428000													6	32					0	0	0.001168	0	0
C1orf106	55765	broad.mit.edu	37	1	200880920	200880920	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:200880920G>A	ENST00000367342.4	+	9	1754	c.1554G>A	c.(1552-1554)ccG>ccA	p.P518P	C1orf106_ENST00000413687.2_Silent_p.P433P	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	518										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GCTATTTCCCGGCGGGGCGGT	0.726000													13	48					0	0	0.001368	0	0
MEPE	56955	broad.mit.edu	37	4	88766888	88766888	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:88766888G>A	ENST00000497649.2	+	6	1174	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	MEPE_ENST00000560249.1_Missense_Mutation_p.E177K|MEPE_ENST00000540395.1_Missense_Mutation_p.E177K|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.E321K|MEPE_ENST00000424957.3_Missense_Mutation_p.E290K|MEPE_ENST00000361056.3_Missense_Mutation_p.E290K			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	290					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AGGCCCAAGTGAAGCTGAGAG	0.448000													9	55					0	0	0.006214	0	0
C7orf57	136288	broad.mit.edu	37	7	48092304	48092304	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr7:48092304C>G	ENST00000348904.3	+	7	825	c.613C>G	c.(613-615)Caa>Gaa	p.Q205E	C7orf57_ENST00000435376.1_Intron|C7orf57_ENST00000430738.1_Missense_Mutation_p.Q250E|C7orf57_ENST00000539619.1_Missense_Mutation_p.Q205E|C7orf57_ENST00000420324.1_Intron	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	205										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						AAGGCCTGGTCAAAAAAACAG	0.408000													5	99					0	0	0.000602	0	0
UROD	7389	broad.mit.edu	37	1	45480410	45480410	+	Silent	SNP	C	C	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:45480410C>A	ENST00000246337.4	+	8	896	c.777C>A	c.(775-777)atC>atA	p.I259I	UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	259						cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					TTTTCTAGATCATCTTTGCTA	0.527000									Porphyria Cutanea Tarda, Type II		OREG0013449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	33					0.00909568	0.00943507	0.009096	1	0
LGI4	163175	broad.mit.edu	37	19	35616221	35616221	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:35616221G>A	ENST00000310123.3	-	9	2009	c.1490C>T	c.(1489-1491)cCg>cTg	p.P497L	LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000392225.3_3'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	497						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CACCAGGGCCGGAGGCCCCAG	0.642000													10	51					0	0	0.008291	0	0
MYH9	4627	broad.mit.edu	37	22	36708234	36708234	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr22:36708234C>T	ENST00000216181.5	-	14	1818	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	530	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	p.E530K(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CAGCACTCCTCGTCCAGCAGG	0.637000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				12	65					0	0	0.001855	0	0
KIAA0556	23247	broad.mit.edu	37	16	27751533	27751533	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr16:27751533G>C	ENST00000261588.4	+	15	1934	c.1915G>C	c.(1915-1917)Gaa>Caa	p.E639Q		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	639										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TCACTCGGAAGAAAGCAAAGG	0.562000													7	59					0	0	0.001984	0	0
ABCG4	64137	broad.mit.edu	37	11	119025544	119025544	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:119025544C>G	ENST00000307417.3	+	6	969	c.605C>G	c.(604-606)tCt>tGt	p.S202C	ABCG4_ENST00000531739.1_Missense_Mutation_p.S202C|ABCG4_ENST00000449422.2_Missense_Mutation_p.S202C	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	202	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	p.S202Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCCCTGCTCTCTGGCGGGCAG	0.622000													17	142					0	0	0.010504	0	0
IQCG	84223	broad.mit.edu	37	3	197665630	197665630	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr3:197665630C>A	ENST00000265239.6	-	5	728	c.304G>T	c.(304-306)Gaa>Taa	p.E102*	IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000455191.1_Nonsense_Mutation_p.E102*|IQCG_ENST00000453254.1_Nonsense_Mutation_p.E102*	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	102										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TTCGTTCCTTCTAGATTCATT	0.338000													27	184					2.44723e-14	2.66796e-14	0.004656	1	0
GRM3	2913	broad.mit.edu	37	7	86468876	86468876	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr7:86468876C>A	ENST00000361669.2	+	4	3145	c.2046C>A	c.(2044-2046)ttC>ttA	p.F682L	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.F274L|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.F554L	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	682					synaptic transmission	integral to plasma membrane		p.F682L(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GGCCAAAATTCATCAGCCCCA	0.542000													18	71					2.35188e-11	2.54406e-11	0.006122	1	0
NIPA2	81614	broad.mit.edu	37	15	23012399	23012399	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr15:23012399G>A	ENST00000337451.3	-	7	940	c.328C>T	c.(328-330)Ctt>Ttt	p.L110F	NIPA2_ENST00000539711.2_Missense_Mutation_p.L91F|NIPA2_ENST00000398013.3_Missense_Mutation_p.L110F|NIPA2_ENST00000398014.2_Missense_Mutation_p.L110F|NIPA2_ENST00000359727.4_Missense_Mutation_p.L91F	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	110						early endosome|integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		TTCCCATGAAGATTAAGTCTT	0.333000													9	67					0	0	0.006214	0	0
ESRRB	2103	broad.mit.edu	37	14	76966231	76966231	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr14:76966231C>G	ENST00000380887.2	+	8	1394	c.1322C>G	c.(1321-1323)tCt>tGt	p.S441C	RP11-187O7.3_ENST00000554926.1_lincRNA|ESRRB_ENST00000261532.7_3'UTR|ESRRB_ENST00000509242.1_Missense_Mutation_p.S441C			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	441						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CTTAGAGGATCTCCCAAGGAT	0.512000													6	53					0	0	0.001168	0	0
PEA15	8682	broad.mit.edu	37	1	160181434	160181434	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:160181434G>A	ENST00000368076.1	+	4	511	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	PEA15_ENST00000368077.1_Missense_Mutation_p.E34K|PEA15_ENST00000360472.4_Missense_Mutation_p.E34K|PEA15_ENST00000488858.1_3'UTR			Q15121	PEA15_HUMAN	phosphoprotein enriched in astrocytes 15	34	DED.				anti-apoptosis|apoptosis|carbohydrate transport|negative regulation of glucose import	cytoplasm|microtubule associated complex	protein binding			large_intestine(1)|lung(4)	5	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATCCCCAGCGAAAAGAGTGA	0.557000													12	75					0	0	0.001368	0	0
C12orf5	57103	broad.mit.edu	37	12	4459054	4459054	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr12:4459054C>T	ENST00000179259.4	+	4	329	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W	C12orf5_ENST00000537251.1_3'UTR	NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	88						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			CTCAAGACTTCGGGAAAGGGT	0.353000													8	27					0	0	0.006214	0	0
TSSC2	650368	broad.mit.edu	37	11	3427759	3427759	+	RNA	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr11:3427759C>T	ENST00000529482.1	+	0	876																											TGTCTGCACACGTCCTGCAGT	0.612000													4	61					0	0	0.000602	0	0
HAS2	3037	broad.mit.edu	37	8	122626424	122626424	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr8:122626424C>T	ENST00000303924.4	-	4	2121	c.1584G>A	c.(1582-1584)acG>acA	p.T528T		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	528						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CTACATACAGCGTCAAAAGCA	0.408000													14	84					0	0	0.003163	0	0
PPM1A	5494	broad.mit.edu	37	14	60750214	60750214	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr14:60750214G>C	ENST00000395076.4	+	2	1223	c.793G>C	c.(793-795)Gag>Cag	p.E265Q	PPM1A_ENST00000529574.1_Missense_Mutation_p.E265Q|PPM1A_ENST00000325658.3_Missense_Mutation_p.E265Q|PPM1A_ENST00000325642.3_Missense_Mutation_p.E338Q	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	265					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		TGATGACCTTGAGAAAGTTTG	0.348000													8	86					0	0	0.006214	0	0
OR2J3	442186	broad.mit.edu	37	6	29079743	29079743	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr6:29079743C>G	ENST00000377169.1	+	1	76	c.76C>G	c.(76-78)Ctg>Gtg	p.L26V		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TTGGCCTCATCTGGAAGTAGT	0.383000													33	109					0	0	0.010818	0	0
ALOX15	246	broad.mit.edu	37	17	4535217	4535217	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr17:4535217G>A	ENST00000570836.1	-	14	1872	c.1776C>T	c.(1774-1776)atC>atT	p.I592I	ALOX15_ENST00000574640.1_Silent_p.I553I|ALOX15_ENST00000545513.1_Silent_p.I614I|ALOX15_ENST00000293761.3_Silent_p.I592I			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	592	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	GCTGCCAAGTGATGGACATCT	0.627000													4	47					0	0	0.000602	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102476268	102476268	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr14:102476268C>T	ENST00000360184.4	+	30	6230	c.6066C>T	c.(6064-6066)taC>taT	p.Y2022Y		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2022	AAA 1 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACCCTGGCTACGCGGGCCGGT	0.552000													7	38					0	0	0.001984	0	0
WDR19	57728	broad.mit.edu	37	4	39276495	39276495	+	Silent	SNP	C	C	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:39276495C>T	ENST00000399820.3	+	33	3787	c.3633C>T	c.(3631-3633)ttC>ttT	p.F1211F	WDR19_ENST00000288634.7_Silent_p.F1051F	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1211					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						ACTCTGCTTTCAGCTTCGCAG	0.488000													8	96					0	0	0.003080	0	0
LAMC1	3915	broad.mit.edu	37	1	183103932	183103932	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:183103932G>C	ENST00000258341.4	+	23	4244	c.3987G>C	c.(3985-3987)aaG>aaC	p.K1329N		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1329	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAAAGGCAAGACTGAACAGC	0.428000													32	174					0	0	0.002836	0	0
DNAH5	1767	broad.mit.edu	37	5	13841896	13841896	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr5:13841896G>C	ENST00000265104.4	-	33	5493	c.5389C>G	c.(5389-5391)Cag>Gag	p.Q1797E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1797	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AATGAGGACTGAGATTCTTCC	0.438000									Kartagener syndrome				7	50					0	0	0.001984	0	0
TCF4	6925	broad.mit.edu	37	18	52928732	52928732	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr18:52928732G>T	ENST00000354452.3	-	12	1566	c.955C>A	c.(955-957)Cag>Aag	p.Q319K	TCF4_ENST00000566279.1_Missense_Mutation_p.Q259K|TCF4_ENST00000537578.1_Missense_Mutation_p.Q295K|TCF4_ENST00000567880.1_Missense_Mutation_p.Q259K|TCF4_ENST00000398339.1_Missense_Mutation_p.Q421K|TCF4_ENST00000561992.1_Missense_Mutation_p.Q189K|TCF4_ENST00000570287.2_Missense_Mutation_p.Q159K|TCF4_ENST00000564228.1_Missense_Mutation_p.Q248K|TCF4_ENST00000543082.1_Missense_Mutation_p.Q277K|TCF4_ENST00000540999.1_Missense_Mutation_p.Q295K|TCF4_ENST00000537856.3_Missense_Mutation_p.Q189K|TCF4_ENST00000566286.1_Missense_Mutation_p.Q317K|TCF4_ENST00000564999.1_Missense_Mutation_p.Q319K|TCF4_ENST00000544241.2_Missense_Mutation_p.Q248K|TCF4_ENST00000565018.2_Missense_Mutation_p.Q319K|TCF4_ENST00000457482.3_Missense_Mutation_p.Q159K|TCF4_ENST00000570177.2_Missense_Mutation_p.Q189K|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000561831.3_Missense_Mutation_p.Q159K|TCF4_ENST00000568740.1_Missense_Mutation_p.Q294K|TCF4_ENST00000356073.4_Missense_Mutation_p.Q319K|TCF4_ENST00000564403.2_Missense_Mutation_p.Q325K|TCF4_ENST00000568673.1_Missense_Mutation_p.Q295K	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	319					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TCTCCAGTCTGGGAGCTGCCG	0.458000													43	227					8.17448e-37	8.94687e-37	0.011902	1	0
FAT1	2195	broad.mit.edu	37	4	187539227	187539227	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:187539227G>C	ENST00000441802.2	-	10	8722	c.8513C>G	c.(8512-8514)tCa>tGa	p.S2838*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2838	Cadherin 26.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTTGGTTCCTGAGTCAGCATC	0.448000										HNSCC(5;0.00058)			15	106					0	0	0.004007	0	0
APPL2	55198	broad.mit.edu	37	12	105568151	105568151	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr12:105568151G>A	ENST00000258530.3	-	21	2161	c.1936C>T	c.(1936-1938)Caa>Taa	p.Q646*	APPL2_ENST00000546731.1_Nonsense_Mutation_p.Q89*|APPL2_ENST00000539978.2_Nonsense_Mutation_p.Q603*|APPL2_ENST00000551662.1_Nonsense_Mutation_p.Q652*	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	646					cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TCATCTGGTTGATCGTTTAAC	0.453000													7	43					0	0	0.001984	0	0
SHROOM4	57477	broad.mit.edu	37	X	50377069	50377069	+	Silent	SNP	G	G	A			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chrX:50377069G>A	ENST00000376020.2	-	4	2029	c.2004C>T	c.(2002-2004)ctC>ctT	p.L668L	SHROOM4_ENST00000289292.7_Silent_p.L668L|SHROOM4_ENST00000460112.3_Silent_p.L552L	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	668					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GGGCTTGGCTGAGGCACTCGG	0.527000													7	15					0	0	0.003080	0	0
ANK2	287	broad.mit.edu	37	4	114158298	114158298	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr4:114158298G>C	ENST00000357077.4	+	6	692	c.639G>C	c.(637-639)caG>caC	p.Q213H	ANK2_ENST00000394537.3_Missense_Mutation_p.Q213H|ANK2_ENST00000506722.1_Missense_Mutation_p.Q192H|ANK2_ENST00000264366.6_Missense_Mutation_p.Q213H	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	213					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTCTGCTTCAGAATGACCACA	0.488000													11	125					0	0	0.008291	0	0
ZNF417	147687	broad.mit.edu	37	19	58420667	58420667	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:58420667T>C	ENST00000312026.5	-	3	1143	c.979A>G	c.(979-981)Aga>Gga	p.R327G	ZNF417_ENST00000595559.1_Missense_Mutation_p.R326G|ZNF417_ENST00000536263.1_Missense_Mutation_p.R128G|CTD-2583A14.9_ENST00000602124.1_Intron	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		CCATATTCTCTACACTCATAA	0.463000													12	257					0	0	0.010729	0	0
CYP2B6	1555	broad.mit.edu	37	19	41522664	41522664	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr19:41522664C>G	ENST00000324071.4	+	9	1415	c.1408C>G	c.(1408-1410)Ctg>Gtg	p.L470V	CYP2B6_ENST00000330446.5_Missense_Mutation_p.L270V|CYP2B6_ENST00000593831.1_Missense_Mutation_p.L234V	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	470					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	AGACATCGATCTGACACCCCA	0.582000													7	24					0	0	0.001984	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367753	145367753	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr1:145367753delG	ENST00000342960.5	+	83	10384	c.10349delG	c.(10348-10350)aafs	p.R3451fs	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3451										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		agaaggggaagaagatcaaag	0.413													13	102	---	---	---	---					
MTPAP	55149	broad.mit.edu	37	10	30653930	30653932	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr10:30653930_30653932delTCC	ENST00000358107.4	-	2	249_251	c.250_252delGGA	c.(250-252)del	p.G84del	MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	0					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CCTGATGATGTCCTCCTCCTCCT	0.635													7	28	---	---	---	---					
TPCN1	53373	broad.mit.edu	37	12	113704096	113704098	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr12:113704096_113704098delCTG	ENST00000550785.1	+	5	734_736	c.565_567delCTG	c.(565-567)del	p.L194del	TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del|TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del|TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	122						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGCCACGGCCCTGCTGCTGCTGC	0.640													7	552	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578217	7578218	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-CR-7386-01A-11D-2012-08	TCGA-CR-7386-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac99486-00bc-41ad-92b4-8bed1a28b122	def25278-359f-4d7f-8a33-48f56f668541	g.chr17:7578217_7578218delGT	ENST00000420246.2	-	6	763_764	c.631_632delAC	c.(631-633)tfs	p.T211fs	TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Frame_Shift_Del_p.T211fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.T211fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.T211fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.T211fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.T211fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	211	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> S (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.0?(8)|p.T211I(7)|p.?(5)|p.T211N(4)|p.T211fs*4(3)|p.T211fs*36(2)|p.R209fs*35(2)|p.T211A(2)|p.T211fs*5(2)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.T211fs*28(1)|p.D207_R213delDDRNTFR(1)|p.D207_V216del10(1)|p.T211_S215delTFRHS(1)|p.R209fs*36(1)|p.T211P(1)|p.T211S(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(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)		ATGTCGAAAAGTGTTTCTGTCA	0.535		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)			12	29	---	---	---	---					
