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
FAM21C	253725	broad.mit.edu	37	10	46272820	46272820	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:46272820A>G	ENST00000336378.4	+	22	2354	c.2236A>G	c.(2236-2238)Agt>Ggt	p.S746G	FAM21C_ENST00000540872.1_Missense_Mutation_p.S748G|FAM21C_ENST00000359860.4_Missense_Mutation_p.S690G|FAM21C_ENST00000537517.1_Intron|FAM21C_ENST00000374362.2_Missense_Mutation_p.S748G	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	748										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAAGGTTGAGAGTGCCAAGGA	0.428000													8	140					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025333	207025333	+	Silent	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:207025333T>C	ENST00000392222.2	+	2	477	c.102T>C	c.(100-102)gaT>gaC	p.D34D	EEF1B2_ENST00000236957.5_Silent_p.D34D|EEF1B2_ENST00000392221.1_Silent_p.D34D	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	34	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CACAAGCAGATGTGGCAGTAT	0.458000													20	60					0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34517405	34517405	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:34517405C>T	ENST00000242317.4	+	19	2112	c.1941C>T	c.(1939-1941)ggC>ggT	p.G647G		NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	647					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TCATTGTGGGCGATGACCGTG	0.532000									Kartagener syndrome				13	37					0	0	1	0	0
MTM1	4534	broad.mit.edu	37	X	149831996	149831996	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:149831996C>T	ENST00000370396.2	+	14	1612	c.1558C>T	c.(1558-1560)Cga>Tga	p.R520*	MTM1_ENST00000543350.1_Nonsense_Mutation_p.R405*|MTM1_ENST00000413012.2_Nonsense_Mutation_p.R483*|MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000306167.7_3'UTR	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	520	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAATCAATCGAGTTTTATA	0.373000													8	33					0	0	1	0	0
AHCYL2	23382	broad.mit.edu	37	7	129064719	129064719	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:129064719G>A	ENST00000325006.3	+	14	1619	c.1565G>A	c.(1564-1566)cGc>cAc	p.R522H	AHCYL2_ENST00000474594.1_Missense_Mutation_p.R419H|AHCYL2_ENST00000446212.1_Missense_Mutation_p.R420H|AHCYL2_ENST00000446544.2_Missense_Mutation_p.R521H|AHCYL2_ENST00000490911.1_Missense_Mutation_p.R419H|AHCYL2_ENST00000531335.2_Missense_Mutation_p.R441H	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	522					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						CACTAGGGCCGCCTGCTGAAC	0.493000													17	79					0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27420591	27420591	+	Silent	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:27420591G>T	ENST00000211936.6	-	6	1031	c.747C>A	c.(745-747)ccC>ccA	p.P249P	ZNF184_ENST00000377419.1_Silent_p.P249P	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P249P(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TACATTTGTAGGGTTTTTCTC	0.348000													47	117					1.61004e-24	1.69461e-24	1	1	0
CYP3A7	1551	broad.mit.edu	37	7	99305556	99305556	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:99305556T>C	ENST00000336374.2	-	12	1297	c.1295A>G	c.(1294-1296)tAc>tGc	p.Y432C		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	432					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					AAAGGGTGTGTATATGTAAGG	0.388000													7	162					0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10503681	10503681	+	Silent	SNP	G	G	A	rs147701905		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:10503681G>A	ENST00000444303.2	+	3	493	c.21G>A	c.(19-21)gcG>gcA	p.A7A	AMPD3_ENST00000396554.3_Silent_p.A175A	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	166					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.A175A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AGAAGTATGCGCGGCTCGCCT	0.612000													52	130					0	0	1	0	0
C5orf38	153571	broad.mit.edu	37	5	2755291	2755291	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:2755291C>T	ENST00000397835.4	+	3	482	c.482C>T	c.(481-483)tCg>tTg	p.S161L	C5orf38_ENST00000334000.3_3'UTR			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	47						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		ccggggcgctcgccgggcgcg	0.791000													11	18					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34824040	34824040	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:34824040G>A	ENST00000192788.5	+	10	1316	c.1145G>A	c.(1144-1146)cGc>cAc	p.R382H	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.R382H	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	382										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CATTGGGTACGCCACTGTGAG	0.468000													49	160					0	0	1	0	0
LPCAT1	79888	broad.mit.edu	37	5	1470989	1470989	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:1470989G>A	ENST00000283415.3	-	12	1362	c.1230C>T	c.(1228-1230)gtC>gtT	p.V410V		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	410	EF-hand 1.				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		GCCGGCAGACGACAGACAGGG	0.657000													40	103					0	0	1	0	0
PMS2P3	0	broad.mit.edu	37	7	75140296	75140296	+	RNA	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:75140296G>A	ENST00000418756.1	-	0	1331					NR_028059.1															lung(1)	1						CACAGGTAGCGTAGAAAATAA	0.443000													7	116					0	0	1	0	0
CNDP1	84735	broad.mit.edu	37	18	72228166	72228166	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:72228166G>A	ENST00000582365.1	+	3	316	c.250G>A	c.(250-252)Gtg>Atg	p.V84M	CNDP1_ENST00000358821.3_Missense_Mutation_p.V127M|CNDP1_ENST00000585136.1_Intron			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	127					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GAAAGGCACCGTGTGCTTCTA	0.602000													12	194					0	0	1	0	0
MYOT	9499	broad.mit.edu	37	5	137206474	137206474	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:137206474G>A	ENST00000239926.4	+	2	508	c.134G>A	c.(133-135)cGc>cAc	p.R45H	RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000509812.1_Intron|MYOT_ENST00000515645.1_Intron|MYOT_ENST00000421631.2_Intron	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	myotilin	45					muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATCCAGCCCCGCCAGTGTACA	0.537000													58	76					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37730604	37730604	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:37730604G>A	ENST00000330843.4	-	4	1728	c.1716C>T	c.(1714-1716)ggC>ggT	p.G572G	RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	572	Ser-rich.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CAGATGCCTGGCCAGAGCTAG	0.557000													29	87					0	0	1	0	0
DHRS1	115817	broad.mit.edu	37	14	24760345	24760345	+	Splice_Site	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:24760345C>T	ENST00000288111.7	-	8	1081	c.805_splice	c.e8+1	p.G269_splice	DHRS1_ENST00000396813.1_Splice_Site_p.G269_splice|DHRS1_ENST00000559088.1_5'UTR	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	269						endoplasmic reticulum	binding|oxidoreductase activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		GGGTCCTCACCGTCCACATCC	0.597000													8	32					0	0	1	0	0
TTYH3	80727	broad.mit.edu	37	7	2691855	2691855	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:2691855C>T	ENST00000258796.7	+	8	1111	c.906C>T	c.(904-906)cgC>cgT	p.R302R	TTYH3_ENST00000407643.1_Silent_p.R270R|TTYH3_ENST00000403167.1_Silent_p.R131R	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	302						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GCTCGCCCCGCGCCGCCAACC	0.642000													7	52					0	0	1	0	0
DARS2	55157	broad.mit.edu	37	1	173822937	173822937	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:173822937G>A	ENST00000361951.4	+	15	2295	c.1568G>A	c.(1567-1569)cGt>cAt	p.R523H	DARS2_ENST00000471476.1_Intron|DARS2_ENST00000239457.5_Intron	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	523					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	TTCTAGGCCCGTAGCCAACAC	0.388000													24	66					0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55638931	55638931	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:55638931C>T	ENST00000370830.3	-	4	1641	c.943G>A	c.(943-945)Gtg>Atg	p.V315M	BMP5_ENST00000446683.2_Missense_Mutation_p.V315M	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	315					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCTGCTCTCACGGATCGAAGA	0.468000													32	108					0	0	1	0	0
SOX6	55553	broad.mit.edu	37	11	16340073	16340073	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:16340073G>A	ENST00000352083.6	-	3	441	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	SOX6_ENST00000527619.1_Missense_Mutation_p.R125C|SOX6_ENST00000528429.1_Missense_Mutation_p.R122C|SOX6_ENST00000528252.1_Missense_Mutation_p.R122C|SOX6_ENST00000316399.6_Missense_Mutation_p.R122C|SOX6_ENST00000396356.3_Missense_Mutation_p.R122C|SOX6_ENST00000533658.1_5'UTR			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	122					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	p.R122C(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CCTTTGCGGCGCTCTGGGGTT	0.502000													71	151					0	0	1	0	0
RHOD	29984	broad.mit.edu	37	11	66834316	66834316	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:66834316C>T	ENST00000308831.2	+	3	413	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	RHOD_ENST00000533360.1_Missense_Mutation_p.R110W|RHOD_ENST00000532559.1_Intron	NM_014578.3	NP_055393.1	O00212	RHOD_HUMAN	ras homolog family member D	110					regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			lung(3)	3						CATCTTTAACCGGGTAGGTAC	0.617000													36	83					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31896622	31896622	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:31896622C>T	ENST00000477310.1	+	3	399	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	C2_ENST00000442278.2_Intron|C2_ENST00000469372.1_Intron|C2_ENST00000299367.5_Missense_Mutation_p.R124W|CFB_ENST00000456570.1_Intron|CFB_ENST00000556679.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.R124W|C2_ENST00000452323.2_Intron			P00751	CFAB_HUMAN	complement factor B	138	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CTTCATATTGCGGGGCTCGCC	0.567000													27	71					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32200866	32200866	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:32200866C>T	ENST00000400246.1	+	17	1324	c.1182C>T	c.(1180-1182)ggC>ggT	p.G394G	DEPDC5_ENST00000266091.3_Silent_p.G394G|DEPDC5_ENST00000400248.1_Silent_p.G394G|DEPDC5_ENST00000400249.2_Silent_p.G394G|DEPDC5_ENST00000382105.2_Silent_p.G394G|DEPDC5_ENST00000382111.2_Silent_p.G394G|DEPDC5_ENST00000382112.3_Silent_p.G394G|DEPDC5_ENST00000536766.1_Silent_p.G366G|DEPDC5_ENST00000535622.1_Silent_p.G394G|DEPDC5_ENST00000400242.3_Silent_p.G394G			O75140	DEPD5_HUMAN	DEP domain containing 5	394					intracellular signal transduction			p.G394G(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTCGTCTGGGCGATGACTATA	0.453000													19	181					0	0	1	0	0
ZFAND2A	90637	broad.mit.edu	37	7	1192812	1192812	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:1192812G>A	ENST00000401903.1	-	5	590	c.331C>T	c.(331-333)Ctg>Ttg	p.L111L	ZFAND2A_ENST00000316495.3_Silent_p.L111L			Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	111						cytoplasm|nucleus	zinc ion binding			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		ACCATCTGCAGCATCTCTTTC	0.483000													6	78					0	0	1	0	0
GGT7	2686	broad.mit.edu	37	20	33451235	33451235	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:33451235C>T	ENST00000336431.5	-	2	330	c.286G>A	c.(286-288)Gca>Aca	p.A96T		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	96					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TCGGCCGCTGCGGCGGAGAAC	0.672000													13	26					0	0	1	0	0
SRCIN1	80725	broad.mit.edu	37	17	36734841	36734841	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:36734841C>T	ENST00000264659.7	-	2	450	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	SRCIN1_ENST00000578925.1_Missense_Mutation_p.A76T	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	83					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TTGCGGTCGGCGTCCGCCTTC	0.677000													12	18					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	62985084	62985084	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:62985084G>A	ENST00000561311.1	+	12	1389	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	TLN2_ENST00000306829.6_Missense_Mutation_p.E387K			Q9Y4G6	TLN2_HUMAN	talin 2	387	FERM.|Interaction with PIP5K1C (By similarity).				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.E387K(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACAAACCACCGAGGGAGAGCA	0.388000													23	59					0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89245892	89245892	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:89245892G>A	ENST00000289746.2	+	2	176	c.111G>A	c.(109-111)gcG>gcA	p.A37A	CDH15_ENST00000521087.1_3'UTR	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	37					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGCGCCGGGCGCCTGCCCTGA	0.657000													35	87					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891121	2891121	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:2891121C>T	ENST00000254528.3	+	4	1155	c.996C>T	c.(994-996)ggC>ggT	p.G332G		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	332					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TCATGGAGGGCATGGACAGAA	0.547000													28	103					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128388750	128388750	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:128388750G>A	ENST00000368227.3	-	12	2437	c.2071C>T	c.(2071-2073)Cgg>Tgg	p.R691W	PTPRK_ENST00000368207.3_Missense_Mutation_p.R691W|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Missense_Mutation_p.R691W|PTPRK_ENST00000368226.4_Missense_Mutation_p.R691W|PTPRK_ENST00000532331.1_Missense_Mutation_p.R691W|PTPRK_ENST00000368213.5_Missense_Mutation_p.R691W|PTPRK_ENST00000368215.3_Missense_Mutation_p.R691W|RP11-103C16.2_ENST00000417390.1_RNA			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	691					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGGTAGGTCCGATTGTCACCC	0.542000													30	88					0	0	1	0	0
NTN1	9423	broad.mit.edu	37	17	9066240	9066240	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:9066240G>A	ENST00000173229.2	+	3	1236	c.1129G>A	c.(1129-1131)Ggc>Agc	p.G377S	NTN1_ENST00000546090.1_Missense_Mutation_p.G377S|NTN1_ENST00000538852.1_Missense_Mutation_p.G377S	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	377	Laminin EGF-like 2.				apoptosis|axon guidance		protein binding		NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						CAACACCGCCGGCCGCCACTG	0.647000													5	18					0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5041923	5041923	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:5041923C>T	ENST00000251170.7	+	6	739	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	187						integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TGCCCCAGTCCGTGAGGAGGA	0.667000													9	8					0	0	1	0	0
RGS11	8786	broad.mit.edu	37	16	321398	321398	+	Splice_Site	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:321398G>A	ENST00000397770.3	-	11	766	c.749_splice	c.e11+1	p.A250_splice	RGS11_ENST00000359740.5_Splice_Site_p.A239_splice|ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000316163.5_Splice_Site_p.A229_splice			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	250	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CCCCACTCACGCCTCAAGGCA	0.647000													24	37					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121476199	121476199	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:121476199T>C	ENST00000260197.7	+	35	4996	c.4867T>C	c.(4867-4869)Tat>Cat	p.Y1623H	SORL1_ENST00000534286.1_Missense_Mutation_p.Y533H|SORL1_ENST00000527934.1_Missense_Mutation_p.Y238H|SORL1_ENST00000525532.1_Missense_Mutation_p.Y567H|SORL1_ENST00000532694.1_Missense_Mutation_p.Y469H	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1623	Fibronectin type-III 1.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AGATACCACGTATCAGGTTAA	0.448000													67	182					0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47882577	47882577	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:47882577G>A	ENST00000446256.2	+	8	1032	c.460G>A	c.(460-462)Gag>Aag	p.E154K	DHX30_ENST00000457607.1_Missense_Mutation_p.E221K|DHX30_ENST00000445061.1_Missense_Mutation_p.E193K|DHX30_ENST00000348968.4_Missense_Mutation_p.E165K	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	193						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGAGGAGGACGAGGAGGAAGA	0.572000													11	40					0	0	1	0	0
FAM13A	10144	broad.mit.edu	37	4	89912189	89912189	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:89912189C>T	ENST00000264344.5	-	4	747	c.540G>A	c.(538-540)aaG>aaA	p.K180K	FAM13A_ENST00000509094.1_Silent_p.K180K|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000515600.1_Silent_p.K180K|FAM13A_ENST00000502459.1_5'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	180	Rho-GAP.				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						GCACATGATGCTTGGCTACTT	0.413000													4	76					0	0	1	0	0
SMOX	54498	broad.mit.edu	37	20	4163076	4163076	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:4163076G>A	ENST00000305958.4	+	5	1175	c.950G>A	c.(949-951)tGc>tAc	p.C317Y	SMOX_ENST00000379460.2_Missense_Mutation_p.C317Y|SMOX_ENST00000278795.3_Intron|SMOX_ENST00000339123.6_Intron|SMOX_ENST00000346595.2_Intron	NM_175839.1	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	317					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	GTGGTGGAGTGCGAGGACTGT	0.642000													16	50					0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24473884	24473884	+	Silent	SNP	G	G	A	rs149870664		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:24473884G>A	ENST00000230036.1	-	6	563	c.453C>T	c.(451-453)caC>caT	p.H151H	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	151						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						AATAGGAGCCGTGAAAATCAA	0.388000													6	27					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42273243	42273243	+	Silent	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:42273243A>G	ENST00000379310.3	-	29	3596	c.3528T>C	c.(3526-3528)agT>agC	p.S1176S		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		CTTTGAGAGGACTTCCCAGCG	0.463000													5	124					0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151400737	151400737	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:151400737C>T	ENST00000271715.2	-	6	1035	c.721G>A	c.(721-723)Gtc>Atc	p.V241I	POGZ_ENST00000361398.3_Missense_Mutation_p.V188I|POGZ_ENST00000531094.1_Missense_Mutation_p.V188I|POGZ_ENST00000491586.1_Missense_Mutation_p.V188I|POGZ_ENST00000409503.1_Missense_Mutation_p.V241I|POGZ_ENST00000392723.1_Missense_Mutation_p.V188I|POGZ_ENST00000368863.2_Missense_Mutation_p.V146I|POGZ_ENST00000540984.1_Intron	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	241					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GACTGTGGGACGGTGCTTCGA	0.602000													12	169					0	0	1	0	0
QPRT	23475	broad.mit.edu	37	16	29708606	29708606	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:29708606C>T	ENST00000395384.4	+	4	929	c.768C>T	c.(766-768)ctC>ctT	p.L256L	QPRT_ENST00000562473.1_Silent_p.L108L|QPRT_ENST00000219771.7_3'UTR	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	256					protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	TGGACAACCTCCCCCAGTTCT	0.637000													11	38					0	0	1	0	0
PLXDC1	57125	broad.mit.edu	37	17	37234284	37234284	+	Silent	SNP	G	G	A	rs138219673		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:37234284G>A	ENST00000315392.4	-	11	1279	c.1068C>T	c.(1066-1068)tgC>tgT	p.C356C	PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Silent_p.C316C|CTD-2206N4.4_ENST00000583447.1_RNA	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	356					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GGAAGTCCTCGCACATCCTGC	0.542000													19	43					0	0	1	0	0
SELENBP1	8991	broad.mit.edu	37	1	151340694	151340694	+	Silent	SNP	G	G	A	rs141632271		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:151340694G>A	ENST00000426705.2	-	5	732	c.588C>T	c.(586-588)gaC>gaT	p.D196D	SELENBP1_ENST00000435071.1_Silent_p.D90D|SELENBP1_ENST00000473693.1_5'UTR|SELENBP1_ENST00000368868.5_Silent_p.D154D|SELENBP1_ENST00000447402.3_Silent_p.D92D	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	selenium binding protein 1	154					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGCCCTTGACGTCTCCCAGGG	0.542000													74	188					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119158888	119158888	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:119158888A>G	ENST00000328252.3	+	22	5246	c.4877A>G	c.(4876-4878)cAt>cGt	p.H1626R	PAPPA_ENST00000534838.1_Missense_Mutation_p.H664R|PAPPA_ENST00000483254.1_3'UTR	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1626					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGATACAGCCATGGCTAAGGA	0.537000													4	116					0	0	1	0	0
ASIC1	41	broad.mit.edu	37	12	50472316	50472316	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:50472316G>A	ENST00000228468.4	+	6	1335	c.950G>A	c.(949-951)cGc>cAc	p.R317H	ASIC1_ENST00000447966.2_Missense_Mutation_p.R317H|ASIC1_ENST00000552438.1_Missense_Mutation_p.R351H	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	317					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	TGTGAGACGCGCTACCTGGTG	0.612000													37	150					0	0	1	0	0
SLC16A13	201232	broad.mit.edu	37	17	6941923	6941923	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:6941923C>T	ENST00000308027.6	+	3	1104	c.796C>T	c.(796-798)Cgt>Tgt	p.R266C		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	266						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CCTCGTGGGGCGTGTGGTCTC	0.602000													6	107					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33137176	33137176	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:33137176C>T	ENST00000341947.2	-	51	4009	c.3782G>A	c.(3781-3783)gGc>gAc	p.G1261D	COL11A2_ENST00000374714.1_Missense_Mutation_p.G1235D|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1201D|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1180D|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1154D|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1214D|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1175D|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1240D	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1261	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCCTTTGGGGCCATCATCGCC	0.627000													9	44					0	0	1	0	0
FAM102B	284611	broad.mit.edu	37	1	109177768	109177768	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:109177768G>A	ENST00000370035.3	+	11	1419	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	FAM102B_ENST00000405454.1_Intron	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	360										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		GTGATCAAACGCTAGAAGTCA	0.373000													26	63					0	0	1	0	0
SYNE3	161176	broad.mit.edu	37	14	95903246	95903246	+	Silent	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:95903246A>G	ENST00000334258.5	-	14	2463	c.2449T>C	c.(2449-2451)Ttg>Ctg	p.L817L	SYNE3_ENST00000557275.1_Silent_p.L812L|SYNE3_ENST00000554873.1_Silent_p.L574L	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						TCCACCTGCAACCACTGCCCA	0.502000													5	112					0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5662502	5662502	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:5662502G>A	ENST00000425013.2	-	17	2814	c.2590C>T	c.(2590-2592)Cat>Tat	p.H864Y	RNF216_ENST00000389902.3_Missense_Mutation_p.H921Y	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	864					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CAGAAGCGATGCCGCGGCTGG	0.622000													10	243					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176638166	176638166	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:176638166G>A	ENST00000439151.2	+	5	2811	c.2766G>A	c.(2764-2766)acG>acA	p.T922T	NSD1_ENST00000347982.4_Silent_p.T653T|NSD1_ENST00000361032.4_Silent_p.T819T|NSD1_ENST00000354179.4_Silent_p.T653T	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	922					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATAGTAAGACGAAGGAGCAGC	0.423000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			10	59					0	0	1	0	0
TMEM86B	255043	broad.mit.edu	37	19	55738740	55738740	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:55738740G>A	ENST00000327042.4	-	3	1012	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C	AC010327.2_ENST00000598855.1_Silent_p.A34A	NM_173804.4	NP_776165.3	Q8N661	TM86B_HUMAN	transmembrane protein 86B	164					ether lipid metabolic process	cytoplasmic part|integral to membrane	alkenylglycerophosphocholine hydrolase activity|alkenylglycerophosphoethanolamine hydrolase activity			skin(2)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GCCAGGCCGCGCCACAGCATG	0.706000													7	16					0	0	1	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91444844	91444844	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:91444844C>T	ENST00000261991.3	-	3	373	c.200G>A	c.(199-201)cGt>cAt	p.R67H	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.R67H|RPS6KA5_ENST00000536315.2_5'UTR	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	67	Protein kinase 1.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		ACTTATTTTACGAACTAGAAA	0.323000													15	29					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13409842	13409842	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:13409842G>A	ENST00000360228.5	-	19	2604	c.2605C>T	c.(2605-2607)Cgg>Tgg	p.R869W	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R870W	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	870					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CTGGGGTCCCGGGCCCGATCG	0.751000													3	25					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79396694	79396694	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:79396694C>T	ENST00000264895.6	+	54	8225	c.7785C>T	c.(7783-7785)acC>acT	p.T2595T		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2594	Calx-beta 1.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGCAAGGCACCGCCAGCTCCA	0.597000													23	67					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46921856	46921856	+	Silent	SNP	G	G	A	rs150401820		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:46921856G>A	ENST00000378623.1	-	3	515	c.273C>T	c.(271-273)gaC>gaT	p.D91D		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	91	LDL-receptor class A 2.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CGTTGTCCCCGTCACACACCC	0.522000													23	73					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146235	70146235	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:70146235C>T	ENST00000335568.5	+	1	19	c.17C>T	c.(16-18)aCt>aTt	p.T6I	UGT2B28_ENST00000511240.1_Missense_Mutation_p.T6I	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	6					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CTGAAGTGGACTTCAGTTCTT	0.403000													53	155					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81517754	81517754	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:81517754G>T	ENST00000394660.2	+	2	374	c.14G>T	c.(13-15)aGc>aTc	p.S5I	IL16_ENST00000302987.4_Missense_Mutation_p.S5I	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	5					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GAGTCGCACAGCCGCGCTGGA	0.542000													7	33					0.0381472	0.0383956	1	1	0
PCDH19	57526	broad.mit.edu	37	X	99662413	99662413	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:99662413G>A	ENST00000373034.4	-	1	2858	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*	PCDH19_ENST00000255531.7_Nonsense_Mutation_p.R395*|PCDH19_ENST00000420881.2_Nonsense_Mutation_p.R395*	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	395	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R395*(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCCTGCAGTCGAAAGGGCACA	0.607000													39	48					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112318870	112318870	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:112318870G>A	ENST00000369697.1	-	6	1809	c.1740C>T	c.(1738-1740)gaC>gaT	p.D580D	KCND3_ENST00000315987.2_Silent_p.D599D|KCND3_ENST00000302127.4_Silent_p.D580D			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	599						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GTCTCAGTCCGTCGTCTGCTT	0.557000													14	36					0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7756414	7756414	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:7756414C>T	ENST00000254846.5	+	21	5096	c.4707C>T	c.(4705-4707)gaC>gaT	p.D1569D	KDM6B_ENST00000448097.2_Silent_p.D1569D	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1569					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GTGTCAAGGACGAGCCAGCCT	0.627000													7	37					0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155920810	155920810	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:155920810C>T	ENST00000368316.1	-	24	2899	c.2429G>A	c.(2428-2430)cGg>cAg	p.R810Q	ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R837Q|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.R839Q|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R838Q|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R810Q			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	838					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTCCCGGAGCCGGGCCTCCAG	0.697000													15	25					0	0	1	0	0
SERPINF1	5176	broad.mit.edu	37	17	1673175	1673175	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:1673175G>A	ENST00000254722.4	+	3	277	c.114G>A	c.(112-114)gcG>gcA	p.A38A	SERPINF1_ENST00000571870.1_3'UTR	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	38					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						GCACAGGGGCGCTGGTGGAGG	0.602000													42	118					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44974420	44974420	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:44974420C>T	ENST00000340446.4	-	1	2062	c.1771G>A	c.(1771-1773)Gct>Act	p.A591T		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	591	Ala-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGAATTGCAGCAGAGGCCTCT	0.547000													17	38					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31683138	31683138	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:31683138G>A	ENST00000319386.3	+	11	2703	c.1710G>A	c.(1708-1710)tcG>tcA	p.S570S	CCDC129_ENST00000409210.1_Silent_p.S626S|CCDC129_ENST00000451887.2_Silent_p.S744S|CCDC129_ENST00000407970.3_Silent_p.S718S			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	718										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GCCTGGTGTCGGCTGCTCAGA	0.527000													25	64					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176011599	176011599	+	Missense_Mutation	SNP	G	G	A	rs114267729	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:176011599G>A	ENST00000510636.1	+	19	2591	c.2317G>A	c.(2317-2319)Gtc>Atc	p.V773I	CDHR2_ENST00000261944.5_Missense_Mutation_p.V773I|CDHR2_ENST00000506348.1_Missense_Mutation_p.V773I	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	773	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GACACAGCCCGTCTTCAACTT	0.597000													44	95					0	0	1	0	0
AC093157.1	0	broad.mit.edu	37	1	101456141	101456141	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:101456141G>A	ENST00000593496.1	+	1	381	c.135G>A	c.(133-135)tcG>tcA	p.S45S	DPH5_ENST00000342173.7_Silent_p.A226A|DPH5_ENST00000370109.3_Silent_p.A227A|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000488176.1_Silent_p.A227A|DPH5_ENST00000427040.2_5'UTR																							TCTGGTCGTCGGCTCCAACCC	0.448000													23	51					0	0	1	0	0
NOL8	55035	broad.mit.edu	37	9	95078067	95078067	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:95078067A>T	ENST00000545558.1	-	7	1332	c.840T>A	c.(838-840)aaT>aaA	p.N280K	NOL8_ENST00000442668.2_Missense_Mutation_p.N280K|NOL8_ENST00000358855.4_Missense_Mutation_p.N212K|NOL8_ENST00000535387.1_Missense_Mutation_p.N280K|NOL8_ENST00000542053.1_Missense_Mutation_p.N212K			Q76FK4	NOL8_HUMAN	nucleolar protein 8	280					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TAAAAGGTAGATTTTTAAGTT	0.373000													10	31					0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170669733	170669733	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:170669733C>T	ENST00000523189.1	+	24	2849	c.2685C>T	c.(2683-2685)ctC>ctT	p.L895L	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	895					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGAATGTCTCACTCAGGACC	0.418000			T	TRD@	ALL								36	95					0	0	1	0	0
CRY2	1408	broad.mit.edu	37	11	45893726	45893726	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:45893726A>G	ENST00000443527.2	+	11	1811	c.1789A>G	c.(1789-1791)Aaa>Gaa	p.K597E	CRY2_ENST00000417225.2_Missense_Mutation_p.K515E	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	576					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						AGAACTCAGCAAACGGGCCCG	0.597000													25	64					0	0	1	0	0
SNX19	399979	broad.mit.edu	37	11	130784835	130784835	+	Missense_Mutation	SNP	C	C	T	rs143532789		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:130784835C>T	ENST00000265909.4	-	1	1569	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K	SNX19_ENST00000528555.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.E334K	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	334					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TCTACAGCTTCGTGGCCTTCT	0.502000													31	76					0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117106079	117106079	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:117106079G>A	ENST00000307564.4	-	19	3827	c.3666C>T	c.(3664-3666)caC>caT	p.H1222H	AKNA_ENST00000374075.5_Silent_p.H1141H|AKNA_ENST00000374088.3_Silent_p.H1222H|AKNA_ENST00000223791.3_Silent_p.H682H|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374079.4_Silent_p.H167H	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CATGGTATTCGTGGCCTGGGG	0.517000													19	52					0	0	1	0	0
CCDC86	79080	broad.mit.edu	37	11	60615458	60615458	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:60615458C>T	ENST00000227520.5	+	2	874	c.820C>T	c.(820-822)Cga>Tga	p.R274*	RP11-804A23.4_ENST00000538705.1_RNA|CCDC86_ENST00000545580.1_Nonsense_Mutation_p.R18*	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	274					interspecies interaction between organisms	nucleus				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						GATGAAGGAACGACAGGAGAG	0.632000													50	114					0	0	1	0	0
HEY2	23493	broad.mit.edu	37	6	126080681	126080681	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:126080681C>T	ENST00000368364.3	+	5	944	c.747C>T	c.(745-747)tgC>tgT	p.C249C	HEY2_ENST00000368365.1_Silent_p.C203C	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	249					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TCGCCCCCTGCGTGCCACCTC	0.672000													126	341					0	0	1	0	0
OPA3	80207	broad.mit.edu	37	19	46056805	46056805	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:46056805G>A	ENST00000263275.4	-	2	561	c.507C>T	c.(505-507)tcC>tcT	p.S169S	OPA3_ENST00000544371.1_Silent_p.S116S|OPA3_ENST00000323060.3_Intron	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	169					response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		CGTGGGAAGCGGACCGGCCGG	0.642000													7	124					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109687842	109687842	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:109687842C>T	ENST00000277225.5	+	3	1938	c.1649C>T	c.(1648-1650)cCg>cTg	p.P550L	ZNF462_ENST00000457913.1_Missense_Mutation_p.P550L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	550					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ccaccgccgccgccaccacca	0.602000													8	28					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43698508	43698508	+	Missense_Mutation	SNP	G	G	C	rs145716593		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:43698508G>C	ENST00000405312.3	-	5	1464	c.1227C>G	c.(1225-1227)atC>atG	p.I409M	PSG4_ENST00000433626.2_Missense_Mutation_p.I316M|PSG4_ENST00000244295.9_Missense_Mutation_p.I316M	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	409	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CTTTGACTGTGATGGATTTGG	0.453000													86	214					0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102946626	102946626	+	Silent	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:102946626T>C	ENST00000504592.1	+	13	1927	c.1509T>C	c.(1507-1509)gcT>gcC	p.A503A	BANK1_ENST00000444316.2_Silent_p.A488A|RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000322953.4_Silent_p.A518A|BANK1_ENST00000428908.1_Silent_p.A385A|BANK1_ENST00000510950.1_3'UTR|BANK1_ENST00000508653.1_Silent_p.A385A			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	518					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GACCTGTAGCTAATGCCTTCC	0.438000													6	26					0	0	1	0	0
SPATS2L	26010	broad.mit.edu	37	2	201337651	201337651	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:201337651A>G	ENST00000409988.3	+	12	1680	c.1157A>G	c.(1156-1158)aAc>aGc	p.N386S	SPATS2L_ENST00000460095.1_3'UTR|SPATS2L_ENST00000451764.2_Missense_Mutation_p.N386S|SPATS2L_ENST00000409755.3_Missense_Mutation_p.N416S|SPATS2L_ENST00000409385.1_Missense_Mutation_p.N326S|SPATS2L_ENST00000409140.3_Missense_Mutation_p.N386S|SPATS2L_ENST00000409151.1_Missense_Mutation_p.N394S|SPATS2L_ENST00000360760.5_Missense_Mutation_p.N317S|SPATS2L_ENST00000358677.4_Missense_Mutation_p.N386S|SPATS2L_ENST00000409718.1_Missense_Mutation_p.N386S	NM_001100422.1	NP_001093892.1	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	386						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						AAACAGAGTAACTTTTCCCGA	0.532000													18	72					0	0	1	0	0
C15orf54	400360	broad.mit.edu	37	15	39544513	39544513	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:39544513G>A	ENST00000318578.3	+	2	545	c.177G>A	c.(175-177)acG>acA	p.T59T	RP11-624L4.1_ENST00000560484.1_RNA|C15orf54_ENST00000561223.1_Silent_p.T59T|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	59			T -> M (in dbSNP:rs11853050).							NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		ATCACATGACGGAGCTCCCTC	0.438000													122	311					0	0	1	0	0
TSPAN33	340348	broad.mit.edu	37	7	128807691	128807691	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:128807691G>A	ENST00000289407.4	+	8	937	c.828G>A	c.(826-828)caG>caA	p.Q276Q		NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	276						integral to membrane				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						ACAACCAGCAGCACCGGGCTG	0.517000													11	22					0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104117872	104117872	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:104117872G>A	ENST00000361355.4	+	8	1522	c.906G>A	c.(904-906)atG>atA	p.M302I	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	302					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GGGGTTTCATGCCTTCTGACA	0.418000													8	405					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150444464	150444464	+	Nonsense_Mutation	SNP	A	A	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:150444464A>T	ENST00000401000.4	+	10	3027	c.2962A>T	c.(2962-2964)Aaa>Taa	p.K988*	RPRD2_ENST00000539519.1_3'UTR|RPRD2_ENST00000369068.4_Nonsense_Mutation_p.K1014*|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1014							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GAATATGCTTAAAAACGCCTC	0.542000													15	361					0	0	1	0	0
ZMYM1	79830	broad.mit.edu	37	1	35579045	35579045	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:35579045C>T	ENST00000373330.1	+	11	1788	c.1614C>T	c.(1612-1614)gaC>gaT	p.D538D	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Silent_p.D538D			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	538						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGTCAGTGACGATTTATCTA	0.313000													4	173					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10597450	10597450	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:10597450C>T	ENST00000171111.5	-	6	2300	c.1753G>A	c.(1753-1755)Gac>Aac	p.D585N	KEAP1_ENST00000393623.2_Missense_Mutation_p.D585N	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	585					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GTATCTGGGTCGTAACACTCC	0.592000													37	99					0	0	1	0	0
CES3	23491	broad.mit.edu	37	16	67006865	67006865	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:67006865G>T	ENST00000303334.4	+	13	1700	c.1629G>T	c.(1627-1629)tgG>tgT	p.W543C	CES3_ENST00000543856.1_Missense_Mutation_p.W182C|CES3_ENST00000394037.1_Missense_Mutation_p.W540C	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	543						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.W543*(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GGGAGGCCTGGATGCAGTTCT	0.577000													27	43					2.44723e-14	2.55836e-14	1	1	0
MAP3K10	4294	broad.mit.edu	37	19	40720904	40720904	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:40720904G>A	ENST00000253055.3	+	10	2858	c.2570G>A	c.(2569-2571)cGc>cAc	p.R857H		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	857					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	p.R857H(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GACTTCCCCCGCCTGCCCGAC	0.677000													17	43					0	0	1	0	0
MARK2	2011	broad.mit.edu	37	11	63672512	63672512	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:63672512G>A	ENST00000402010.2	+	16	2510	c.1931G>A	c.(1930-1932)cGc>cAc	p.R644H	MARK2_ENST00000509502.2_Missense_Mutation_p.R610H|MARK2_ENST00000361128.5_Missense_Mutation_p.R590H|MARK2_ENST00000315032.8_Missense_Mutation_p.R644H|MARK2_ENST00000350490.7_Missense_Mutation_p.R589H|MARK2_ENST00000502399.3_Missense_Mutation_p.R643H|MARK2_ENST00000508192.1_Missense_Mutation_p.R589H|MARK2_ENST00000408948.3_Missense_Mutation_p.R556H|MARK2_ENST00000377809.4_Missense_Mutation_p.R644H|MARK2_ENST00000377810.3_Missense_Mutation_p.R556H|MARK2_ENST00000413835.2_Missense_Mutation_p.R590H|MARK2_ENST00000425897.2_Missense_Mutation_p.R564H|MARK2_ENST00000513765.2_Missense_Mutation_p.R611H	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	644					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AAGTTTGTACGCAGGTAAGCA	0.632000													60	132					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38976306	38976306	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:38976306G>A	ENST00000355481.4	+	34	5142	c.5011G>A	c.(5011-5013)Gct>Act	p.A1671T	RYR1_ENST00000360985.3_Missense_Mutation_p.A1671T|RYR1_ENST00000359596.3_Missense_Mutation_p.A1671T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1671	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCTCTACCGCGCTGTGTGCGC	0.667000													30	74					0	0	1	0	0
KIF5C	3800	broad.mit.edu	37	2	149853788	149853788	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:149853788C>T	ENST00000435030.1	+	18	2402	c.2034C>T	c.(2032-2034)caC>caT	p.H678H	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Silent_p.H583H|KIF5C_ENST00000397413.1_Silent_p.H446H			O60282	KIF5C_HUMAN	kinesin family member 5C	678					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AAAAAATGCACGAAGTCAGCT	0.408000													11	31					0	0	1	0	0
PATL1	219988	broad.mit.edu	37	11	59415348	59415348	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:59415348C>T	ENST00000300146.9	-	15	1856	c.1772G>A	c.(1771-1773)cGa>cAa	p.R591Q		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	591	Region C.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						CTTCCCTTTTCGGATACACAT	0.443000													12	47					0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27285095	27285095	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:27285095C>T	ENST00000317338.12	-	11	2600	c.2172G>A	c.(2170-2172)tcG>tcA	p.S724S	PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Silent_p.S724S|SEZ6_ENST00000360295.9_Silent_p.S724S|SEZ6_ENST00000335960.6_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	724	Sushi 3.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GCTCAGGCTGCGATGGGCTCT	0.612000													18	80					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17270255	17270255	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:17270255C>T	ENST00000595618.1	+	8	1532	c.1380C>T	c.(1378-1380)acC>acT	p.T460T	MYO9B_ENST00000594824.1_Silent_p.T460T|MYO9B_ENST00000397274.2_Silent_p.T460T|CTD-3032J10.2_ENST00000599360.1_RNA|CTD-3032J10.2_ENST00000597216.1_RNA	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	460	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AAACGGTGACCGTCAACGACA	0.517000													4	20					0	0	1	0	0
PGM2	55276	broad.mit.edu	37	4	37831682	37831682	+	Translation_Start_Site	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:37831682G>A	ENST00000537241.1	+	0	190				PGM2_ENST00000544359.1_De_novo_Start_OutOfFrame|PGM2_ENST00000381967.4_Missense_Mutation_p.A60T			Q96G03	PGM2_HUMAN	phosphoglucomutase 2						glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						GTTTGGGACAGCTGGCCTCCG	0.423000													16	38					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626820	108626820	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:108626820G>A	ENST00000264047.2	+	9	1522	c.1246G>A	c.(1246-1248)Gtt>Att	p.V416I	SLC5A7_ENST00000409059.1_Missense_Mutation_p.V416I|SLC5A7_ENST00000540517.1_Missense_Mutation_p.V311I	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	416					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TGTTTACATCGTTATCTTCCC	0.483000													22	67					0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39796522	39796522	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:39796522C>T	ENST00000373272.2	+	20	2737	c.2332C>T	c.(2332-2334)Cgc>Tgc	p.R778C	PLCG1_ENST00000244007.3_Missense_Mutation_p.R778C|PLCG1_ENST00000373271.1_Missense_Mutation_p.R778C	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	778					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GTATGAGGGACGCAACCCTGG	0.552000													7	25					0	0	1	0	0
OR9G1	390174	broad.mit.edu	37	11	56467959	56467959	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:56467959C>T	ENST00000312153.1	+	1	96	c.96C>T	c.(94-96)ggC>ggT	p.G32G		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TGTTCCTGGGCGTGTACTCTC	0.502000													24	113					0	0	1	0	0
SLC9A3R2	9351	broad.mit.edu	37	16	2086422	2086422	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:2086422G>A	ENST00000424542.2	+	3	650	c.512G>A	c.(511-513)cGg>cAg	p.R171Q	SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.R60Q|SLC9A3R2_ENST00000565086.1_3'UTR|SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.R171Q|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.R65Q	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	171	PDZ 2.				protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding			central_nervous_system(1)|endometrium(1)	2						GACAAGTCCCGGCCCGGCCAG	0.687000													5	11					0	0	1	0	0
BMP7	655	broad.mit.edu	37	20	55758849	55758849	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:55758849C>T	ENST00000395863.3	-	4	1392	c.887G>A	c.(886-888)aGc>aAc	p.S296N	BMP7_ENST00000450594.2_Missense_Mutation_p.S296N|BMP7_ENST00000395864.3_Intron|BMP7_ENST00000460817.1_5'UTR	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	296					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			GCGCTGTTTGCTCCCCGTGGA	0.632000													25	94					0	0	1	0	0
WDR63	126820	broad.mit.edu	37	1	85589838	85589838	+	Silent	SNP	C	C	T	rs138281012	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:85589838C>T	ENST00000294664.6	+	19	2196	c.2016C>T	c.(2014-2016)gaC>gaT	p.D672D	WDR63_ENST00000370596.1_Silent_p.D633D|WDR63_ENST00000326813.8_Silent_p.D633D	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	672										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CCATTCACGACGGAACTGTCC	0.443000													30	74					0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13230974	13230974	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:13230974C>T	ENST00000378694.1	+	9	1384	c.1309C>T	c.(1309-1311)Cga>Tga	p.R437*	MCM10_ENST00000378714.3_Nonsense_Mutation_p.R437*|MCM10_ENST00000484800.2_Nonsense_Mutation_p.R438*			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	438					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CTCTGGAGGACGAATTCCAAA	0.537000													5	175					0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418000													4	136					0	0	1	0	0
NR2E1	7101	broad.mit.edu	37	6	108492739	108492739	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:108492739G>A	ENST00000368986.4	+	2	811	c.103G>A	c.(103-105)Ggc>Agc	p.G35S	NR2E1_ENST00000368983.3_Missense_Mutation_p.G72S	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	35					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CGCCTGCGACGGCTGCTCAGG	0.567000													65	172					0	0	1	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52147073	52147073	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:52147073G>A	ENST00000360844.6	-	5	1012	c.971C>T	c.(970-972)cCg>cTg	p.P324L	SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	324	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GGAGCCCAGCGGATGCTGAAC	0.577000													29	64					0	0	1	0	0
DUSP18	0	broad.mit.edu	37	22	31059579	31059579	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:31059579G>A	ENST00000403268.1	-	3	772	c.302C>T	c.(301-303)cCg>cTg	p.P101L	DUSP18_ENST00000334679.3_Missense_Mutation_p.R138W|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000404885.1_Missense_Mutation_p.R138W|DUSP18_ENST00000407308.1_Missense_Mutation_p.R138W			Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	0	Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						ATGATGGGCCGGCATGACTTG	0.582000													23	64					0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46323417	46323417	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:46323417C>T	ENST00000397850.2	-	6	814	c.362G>A	c.(361-363)cGg>cAg	p.R121Q	ITGB2_ENST00000302347.5_Missense_Mutation_p.R121Q|ITGB2_ENST00000397852.1_Missense_Mutation_p.R121Q|ITGB2_ENST00000397857.1_Missense_Mutation_p.R121Q|ITGB2_ENST00000397854.3_Intron|ITGB2_ENST00000355153.4_Missense_Mutation_p.R121Q			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	121					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCCCTTGGCCCGCCGGAAGGT	0.592000													21	63					0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	26012962	26012962	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:26012962G>A	ENST00000374332.4	+	2	902	c.572G>A	c.(571-573)cGt>cAt	p.R191H	MAN1C1_ENST00000263979.3_Missense_Mutation_p.R11H	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	191					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		AGCTATAAGCGTTATGCAATG	0.493000													44	127					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15372633	15372633	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:15372633C>A	ENST00000281513.5	-	47	6174	c.6149G>T	c.(6148-6150)gGt>gTt	p.G2050V	NBAS_ENST00000441750.1_Missense_Mutation_p.G1930V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2050										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AGCACTGCCACCACTGTGAAA	0.483000													9	30					2.74318e-10	2.85122e-10	1	1	0
SEMA6C	10500	broad.mit.edu	37	1	151105902	151105902	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:151105902G>A	ENST00000341697.3	-	19	3542	c.1851C>T	c.(1849-1851)ggC>ggT	p.G617G				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	617						integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGACTGAGGCGCCCAGGGCAA	0.731000													5	7					0	0	1	0	0
DIO2	1734	broad.mit.edu	37	14	80677671	80677671	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:80677671C>T	ENST00000557010.1	-	3	530	c.145G>A	c.(145-147)Gga>Aga	p.G49R	DIO2_ENST00000438257.4_Missense_Mutation_p.G49R|DIO2_ENST00000557125.1_Intron|DIO2_ENST00000555750.1_Missense_Mutation_p.G49R|DIO2_ENST00000422005.3_Missense_Mutation_p.G49R	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	49					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CGCCACTCTCCGCGAGTGGAC	0.577000													7	25					0	0	1	0	0
SAMD10	140700	broad.mit.edu	37	20	62607080	62607080	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:62607080C>T	ENST00000369886.3	-	4	725	c.551G>A	c.(550-552)cGt>cAt	p.R184H	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron|SAMD10_ENST00000498830.1_5'UTR	NM_080621.4	NP_542188.1	Q9BYL1	SAM10_HUMAN	sterile alpha motif domain containing 10	184	SAM.									kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	7	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCCCTCCTCACGCACCTGCAG	0.682000													50	99					0	0	1	0	0
JMJD8	339123	broad.mit.edu	37	16	733031	733031	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:733031C>T	ENST00000293882.4	-	8	845	c.846G>A	c.(844-846)acG>acA	p.T282T	JMJD8_ENST00000412368.2_Silent_p.T233T|JMJD8_ENST00000562824.1_Silent_p.T182T|JMJD8_ENST00000562111.1_Intron|JMJD8_ENST00000454700.1_Silent_p.T252T			Q96S16	JMJD8_HUMAN	jumonji domain containing 8	282	JmjC.									breast(1)	1						GCCAGGCCAGCGTGGTCTTGT	0.642000													39	56					0	0	1	0	0
USPL1	10208	broad.mit.edu	37	13	31227350	31227350	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:31227350C>T	ENST00000255304.4	+	8	1646	c.1304C>T	c.(1303-1305)gCa>gTa	p.A435V		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	435					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		CAGCACTATGCATTTCATTTT	0.348000													26	86					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134346320	134346320	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:134346320C>T	ENST00000357304.4	+	13	2112	c.2057C>T	c.(2056-2058)aCg>aTg	p.T686M	PRRC2B_ENST00000458550.1_Missense_Mutation_p.T686M|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Missense_Mutation_p.T686M	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	686							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CCACGTATCACGCCCACTCGG	0.607000													5	43					0	0	1	0	0
TCAP	8557	broad.mit.edu	37	17	37822127	37822127	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:37822127C>T	ENST00000309889.2	+	2	1442	c.269C>T	c.(268-270)cCg>cTg	p.P90L	TCAP_ENST00000578283.1_Missense_Mutation_p.P66L			O15273	TELT_HUMAN	titin-cap	90			P -> L (in CMD1N).		adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	cytosol|Z disc	structural constituent of muscle|titin binding|titin Z domain binding			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGGGTACTGCCGCTGCCCATC	0.672000													7	23					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27873946	27873946	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:27873946C>T	ENST00000374011.2	-	6	5649	c.4681G>A	c.(4681-4683)Gac>Aac	p.D1561N	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.D1561N	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1561							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TAGGCGGTGTCCTGCAGGGGC	0.692000													7	125					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38460555	38460555	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:38460555G>A	ENST00000399017.2	+	4	2994	c.247G>A	c.(247-249)Gat>Aat	p.D83N	TTC3_ENST00000540756.1_Intron|TTC3_ENST00000354749.2_Missense_Mutation_p.D83N|TTC3_ENST00000355666.1_Missense_Mutation_p.D83N|TTC3_ENST00000399010.1_Missense_Mutation_p.D83N|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	83					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)				AGATTATTGCGATGCCATTAA	0.348000													26	49					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24459593	24459593	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:24459593G>A	ENST00000398319.2	+	14	2253	c.1868G>A	c.(1867-1869)cGc>cAc	p.R623H	CABIN1_ENST00000405822.2_Missense_Mutation_p.R573H|CABIN1_ENST00000263119.5_Missense_Mutation_p.R623H	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	623					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGAAGGCTCGCTTCCTGGCG	0.582000													43	99					0	0	1	0	0
GNRHR	0	broad.mit.edu	37	4	68610374	68610374	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:68610374G>T	ENST00000226413.4	-	2	678	c.654C>A	c.(652-654)tgC>tgA	p.C218*	RP11-453E17.1_ENST00000502758.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.P176T	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	218					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	TGATGAAGAGGCAGCTGAAGG	0.433000													33	77					1.61788e-16	1.69298e-16	1	1	0
B4GALNT4	338707	broad.mit.edu	37	11	380294	380294	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:380294C>T	ENST00000329962.6	+	18	2718	c.2718C>T	c.(2716-2718)gaC>gaT	p.D906D		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	906						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCCCCAGGACGCCAGCAGCA	0.701000													19	54					0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202698198	202698198	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:202698198C>T	ENST00000367265.3	-	27	5765	c.4601G>A	c.(4600-4602)cGc>cAc	p.R1534H	KDM5B_ENST00000367264.2_Missense_Mutation_p.R1570H	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1534					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CACAGTACAGCGCACACAGAT	0.473000													28	68					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139350603	139350603	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:139350603G>A	ENST00000313050.7	-	17	5639	c.5566C>T	c.(5566-5568)Cga>Tga	p.R1856*	SEC16A_ENST00000290037.6_Nonsense_Mutation_p.R1678*|SEC16A_ENST00000371706.3_Nonsense_Mutation_p.R1678*|SEC16A_ENST00000431893.2_Nonsense_Mutation_p.R1678*	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1678	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TCGAAGAGTCGTAACTGGGAA	0.567000													4	77					0	0	1	0	0
IKBIP	121457	broad.mit.edu	37	12	99020465	99020465	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:99020465T>C	ENST00000299157.4	-	3	750	c.377A>G	c.(376-378)aAc>aGc	p.N126S	IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Intron|IKBIP_ENST00000420861.1_Intron	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	128					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						ATCTTGGAGGTTGGATACTTC	0.393000													22	52					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55140716	55140716	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:55140716C>T	ENST00000257290.5	+	11	1908	c.1577C>T	c.(1576-1578)aCg>aTg	p.T526M	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	526					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TCTGAACTCACGGTGGCTGCT	0.478000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			25	84					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78831654	78831654	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:78831654G>A	ENST00000306801.3	+	13	1825	c.1463G>A	c.(1462-1464)cGg>cAg	p.R488Q	RPTOR_ENST00000544334.2_Missense_Mutation_p.R488Q|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000537330.1_Missense_Mutation_p.R303Q	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	488					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CGAGAGCTGCGGCCACTTCTC	0.652000													8	53					0	0	1	0	0
GNRHR	0	broad.mit.edu	37	4	68610375	68610375	+	Missense_Mutation	SNP	C	C	T	rs151105045	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:68610375C>T	ENST00000226413.4	-	2	677	c.653G>A	c.(652-654)tGc>tAc	p.C218Y	RP11-453E17.1_ENST00000502758.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA|GNRHR_ENST00000420975.2_Silent_p.L175L	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	218					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	GATGAAGAGGCAGCTGAAGGT	0.438000													35	77					0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124761327	124761327	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:124761327G>A	ENST00000306534.3	-	12	2301	c.1816C>T	c.(1816-1818)Cgc>Tgc	p.R606C	ROBO4_ENST00000533054.1_Missense_Mutation_p.R461C|RP11-664I21.6_ENST00000524433.1_5'UTR	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	606					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGTGGGAGGCGCCTGACAGCT	0.662000													18	64					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42281464	42281464	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:42281464C>T	ENST00000282030.5	+	2	449	c.153C>T	c.(151-153)ggC>ggT	p.G51G	SETBP1_ENST00000426838.4_Silent_p.G51G	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	51						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TCCCGGTGGGCGGAGAGCGCA	0.622000									Schinzel-Giedion syndrome				6	50					0	0	1	0	0
ARNT	0	broad.mit.edu	37	1	150790487	150790487	+	Missense_Mutation	SNP	G	G	A	rs143491065		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:150790487G>A	ENST00000358595.5	-	15	1614	c.1414C>T	c.(1414-1416)Cgg>Tgg	p.R472W	ARNT_ENST00000515192.1_Missense_Mutation_p.R458W|ARNT_ENST00000505755.1_Missense_Mutation_p.R457W|ARNT_ENST00000354396.2_Missense_Mutation_p.R472W	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	472					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGTGTAGGCCGTGGTTCTTGG	0.517000			T	ETV6	AML								7	16					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179501179	179501179	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179501179C>T	ENST00000589042.1	-	225	41499	c.41275G>A	c.(41275-41277)Gtt>Att	p.V13759I	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V4819I|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V4886I|TTN_ENST00000342992.6_Missense_Mutation_p.V11191I|TTN_ENST00000460472.2_Missense_Mutation_p.V4694I|TTN_ENST00000591111.1_Missense_Mutation_p.V12118I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12118	Ig-like 94.						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)			AAACGTAAAACACAGGTGTAT	0.378000													6	51					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52860732	52860732	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:52860732G>A	ENST00000343457.3	-	4	2462	c.2456C>T	c.(2455-2457)cCg>cTg	p.P819L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	819						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GAACATGCCCGGAAACTCATC	0.463000													15	40					0	0	1	0	0
PLEKHN1	84069	broad.mit.edu	37	1	909722	909722	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:909722C>T	ENST00000379409.2	+	14	1866	c.1836C>T	c.(1834-1836)ccC>ccT	p.P612P	PLEKHN1_ENST00000379407.2_Silent_p.P525P|PLEKHN1_ENST00000379410.3_Silent_p.P560P			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	612				P -> S (in Ref. 4; AAI01388).						central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		AAGGTTCGCCCGAACCCTGGC	0.627000													20	109					0	0	1	0	0
YARS2	51067	broad.mit.edu	37	12	32902905	32902905	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:32902905G>A	ENST00000324868.8	-	4	1267	c.1240C>T	c.(1240-1242)Cgc>Tgc	p.R414C	YARS2_ENST00000551673.1_5'UTR	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	414					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	TTTGCTTTGCGGCAAGTATCT	0.388000													32	85					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156957868	156957868	+	Silent	SNP	C	C	T	rs141005435	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:156957868C>T	ENST00000257527.4	-	5	432	c.354G>A	c.(352-354)acG>acA	p.T118T	ADAM19_ENST00000394020.1_Silent_p.T120T|ADAM19_ENST00000517905.1_Silent_p.T118T|ADAM19_ENST00000430702.2_5'UTR	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	118					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTCCCTCACCGTGCCGTGGT	0.537000													12	55					0	0	1	0	0
PLK3	1263	broad.mit.edu	37	1	45270998	45270998	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:45270998T>C	ENST00000372201.4	+	14	1935	c.1696T>C	c.(1696-1698)Tgg>Cgg	p.W566R	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	566						membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GCTGCTGCAGTGGGTCAAGAC	0.597000													21	69					0	0	1	0	0
SMCR7L	0	broad.mit.edu	37	22	39909961	39909961	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:39909961G>A	ENST00000325301.2	+	6	1449	c.1025G>A	c.(1024-1026)cGt>cAt	p.R342H	SMCR7L_ENST00000402881.1_Missense_Mutation_p.R342H|SMCR7L_ENST00000404569.1_Missense_Mutation_p.R342H	NM_019008.4	NP_061881.2	Q9NQG6	SMC7L_HUMAN		342						integral to membrane|mitochondrion				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16	Melanoma(58;0.04)					CTGAGCCTGCGTCCCGCGGAG	0.622000											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	79					0	0	1	0	0
DUSP6	1848	broad.mit.edu	37	12	89744489	89744489	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:89744489G>A	ENST00000279488.7	-	2	1945	c.714C>T	c.(712-714)aaC>aaT	p.N238N	DUSP6_ENST00000308385.6_Intron|DUSP6_ENST00000547291.1_Silent_p.N113N|DUSP6_ENST00000547140.1_5'UTR	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	238	Tyrosine-protein phosphatase.				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						TGGGGGTGACGTTCAAGATGT	0.493000													8	216					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15928442	15928442	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:15928442G>A	ENST00000504595.1	+	3	1052	c.571G>A	c.(571-573)Gta>Ata	p.V191I	FBXL7_ENST00000329673.7_Missense_Mutation_p.V179I|FBXL7_ENST00000510662.1_Missense_Mutation_p.V144I	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	191					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCTGGAAACCGTAACTGTCAG	0.627000													11	34					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66990669	66990669	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:66990669G>A	ENST00000359742.4	-	2	334	c.94C>T	c.(94-96)Ccg>Tcg	p.P32S	GRIP1_ENST00000286445.7_Missense_Mutation_p.P32S|GRIP1_ENST00000398016.3_Missense_Mutation_p.P32S			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	32					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)		CCATCAGGCGGCTTTGTCTGG	0.448000													4	77					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96957583	96957583	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:96957583C>T	ENST00000323853.5	-	17	2293	c.2216G>A	c.(2215-2217)cGg>cAg	p.R739Q	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	739	Helicase C-terminal 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GCACATGTCCCGGATGGCCCT	0.557000													12	43					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38755531	38755531	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:38755531G>T	ENST00000449082.2	-	21	3721	c.3722C>A	c.(3721-3723)tCt>tAt	p.S1241Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1241					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGCCACTTCAGAATATTCCAG	0.512000													6	111					0.0215528	0.0217133	1	1	0
TCEB3CL	728929	broad.mit.edu	37	18	44549167	44549167	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:44549167T>G	ENST00000451265.1	-	1	1367	c.1132A>C	c.(1132-1134)Aca>Cca	p.T378P	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_001100817.1	NP_001094287.1			transcription elongation factor B polypeptide 3C-like											central_nervous_system(1)|lung(1)|prostate(1)	3						TCTTTCTCTGTGCGGTACGGC	0.572000													28	339					0	0	1	0	0
FZR1	51343	broad.mit.edu	37	19	3532474	3532474	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:3532474G>A	ENST00000441788.2	+	11	1304	c.1068G>A	c.(1066-1068)gcG>gcA	p.A356A	FZR1_ENST00000395095.3_Silent_p.A356A|FZR1_ENST00000313639.8_Silent_p.A267A	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	356					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCACCTGGCGGCCGTGAAGG	0.687000													13	27					0	0	1	0	0
C20orf141	128653	broad.mit.edu	37	20	2796319	2796319	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:2796319C>T	ENST00000380589.4	+	2	570	c.396C>T	c.(394-396)gaC>gaT	p.D132D	TMEM239_ENST00000380593.4_Intron|TMEM239_ENST00000554164.1_Intron|C20orf141_ENST00000603872.1_Silent_p.D132D	NM_080739.2	NP_542777.1	Q9NUB4	CT141_HUMAN	chromosome 20 open reading frame 141	132	Leu-rich.					integral to membrane				endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	10						GCCTCCAGGACGCACTGCTGC	0.632000													22	56					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	876523	876523	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:876523G>A	ENST00000314167.4	-	14	1599	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	GAK_ENST00000511163.1_Missense_Mutation_p.R418W	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	497	Phosphatase tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TGGTCCTGCCGCAGCCAGGCG	0.612000													8	90					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73750675	73750675	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:73750675G>A	ENST00000200181.3	+	34	4524	c.4337G>A	c.(4336-4338)cGg>cAg	p.R1446Q	ITGB4_ENST00000450894.3_Missense_Mutation_p.R1376Q|ITGB4_ENST00000449880.2_Missense_Mutation_p.R1376Q|ITGB4_ENST00000339591.3_Missense_Mutation_p.R1376Q|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000579662.1_Missense_Mutation_p.R1376Q	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1446					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTGAATGGCCGGATGGACTTT	0.677000													4	86					0	0	1	0	0
KBTBD7	84078	broad.mit.edu	37	13	41767598	41767598	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:41767598G>A	ENST00000379483.3	-	1	1104	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	266							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		TGCATCCAGCGCACGCACTTG	0.552000													10	95					0	0	1	0	0
CASC3	22794	broad.mit.edu	37	17	38319961	38319961	+	Missense_Mutation	SNP	G	G	A	rs139973585		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:38319961G>A	ENST00000264645.7	+	7	1239	c.1013G>A	c.(1012-1014)cGg>cAg	p.R338Q		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	338					mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CATGGTGGCCGGTCTGGTGAG	0.552000													13	267					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41313799	41313799	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:41313799C>A	ENST00000377801.3	-	3	960	c.886G>T	c.(886-888)Gat>Tat	p.D296Y	PLCXD3_ENST00000328457.3_Missense_Mutation_p.D296Y			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	296					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCTACAAAATCGGCAGTGACA	0.448000													16	41					5.01169e-05	5.13023e-05	1	1	0
TTN	7273	broad.mit.edu	37	2	179401235	179401235	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179401235C>A	ENST00000589042.1	-	357	100463	c.100239G>T	c.(100237-100239)tgG>tgT	p.W33413C	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W24473C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W24540C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W30845C|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W24348C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W31772C|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000431259.2_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31772							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)			CAGGTGGCTTCCAGGCCACAA	0.403000													5	74					8.12818e-05	8.30472e-05	1	1	0
BRD4	23476	broad.mit.edu	37	19	15366907	15366907	+	Silent	SNP	C	C	T	rs142701429	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:15366907C>T	ENST00000263377.2	-	9	1940	c.1719G>A	c.(1717-1719)acG>acA	p.T573T	BRD4_ENST00000371835.4_Silent_p.T573T|BRD4_ENST00000360016.5_Silent_p.T573T	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	573	Lys-rich.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			tatttttcttcgtctttttag	0.443000			T	C15orf55	lethal midline carcinoma of young people								4	39					0	0	1	0	0
SRI	6717	broad.mit.edu	37	7	87838684	87838684	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:87838684C>T	ENST00000265729.2	-	6	533	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	SRI_ENST00000431660.1_Missense_Mutation_p.A146T|SRI_ENST00000419179.1_Missense_Mutation_p.A121T|SRI_ENST00000394641.3_Missense_Mutation_p.A146T|SRI_ENST00000490437.1_Missense_Mutation_p.A118T	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin	161	EF-hand 4.				heart development|intracellular sequestering of iron ion|muscle organ development|regulation of action potential|regulation of heart contraction|regulation of striated muscle contraction|signal transduction	sarcoplasmic reticulum membrane	calcium channel regulator activity|calcium ion binding|receptor binding			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					ACGCAGCAGGCGATGTAGTCG	0.443000													11	40					0	0	1	0	0
ZC3H18	124245	broad.mit.edu	37	16	88689746	88689746	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:88689746G>A	ENST00000301011.5	+	10	1987	c.1787G>A	c.(1786-1788)cGg>cAg	p.R596Q	ZC3H18_ENST00000452588.2_Missense_Mutation_p.R620Q	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	596	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding	p.R596L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TCAGGAAGCCGGTCCAGGTAT	0.627000													14	17					0	0	1	0	0
KIAA0513	9764	broad.mit.edu	37	16	85101007	85101007	+	Splice_Site	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:85101007G>T	ENST00000566428.1	+	2	960		c.e2+1		KIAA0513_ENST00000538274.1_Splice_Site|KIAA0513_ENST00000567328.1_Splice_Site|KIAA0513_ENST00000258180.3_Splice_Site			O60268	K0513_HUMAN	KIAA0513							cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		TCTCTGGAGGGTAAGGGGCCT	0.632000													14	41					2.61681e-11	2.72249e-11	1	1	0
NCKIPSD	51517	broad.mit.edu	37	3	48719968	48719968	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:48719968C>T	ENST00000294129.2	-	3	418	c.299G>A	c.(298-300)cGg>cAg	p.R100Q	NCKIPSD_ENST00000341520.4_Missense_Mutation_p.R100Q|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.R100Q	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	100					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGTCTCTTTCCGGTGGTGGAT	0.567000													35	89					0	0	1	0	0
DLL3	10683	broad.mit.edu	37	19	39994903	39994903	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:39994903C>T	ENST00000205143.4	+	5	852	c.845C>T	c.(844-846)cCg>cTg	p.P282L	DLL3_ENST00000356433.5_Missense_Mutation_p.P282L	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	282	EGF-like 2.				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GACGGGAACCCGTGTGCCAAT	0.647000													8	44					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53678733	53678733	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:53678733A>G	ENST00000396424.3	-	3	196	c.107T>C	c.(106-108)gTc>gCc	p.V36A	ZNF665_ENST00000600412.1_Intron	NM_024733.3	NP_079009.3	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CTCCAACATGACGTCCCTGTA	0.458000													4	140					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149485020	149485020	+	RNA	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:149485020C>T	ENST00000378016.2	+	0	3775							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGTGCCCGGCATGGGCACCA	0.637000													4	7					0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109522826	109522826	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:109522826C>T	ENST00000257548.5	+	12	1330	c.1237C>T	c.(1237-1239)Cca>Tca	p.P413S	USP30_ENST00000392784.2_Missense_Mutation_p.P382S	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	413					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ATCTTTATTGCCAACGCTGTC	0.522000													16	360					0	0	1	0	0
AJUBA	84962	broad.mit.edu	37	14	23444255	23444255	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:23444255T>C	ENST00000262713.2	-	5	1673	c.1298A>G	c.(1297-1299)aAc>aGc	p.N433S	RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Missense_Mutation_p.N433S|AJUBA_ENST00000397388.3_Missense_Mutation_p.N16S	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	433	LIM zinc-binding 2.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										CAGGCACTTGTTGCAAACAAT	0.522000													20	80					0	0	1	0	0
HGFAC	3083	broad.mit.edu	37	4	3449905	3449905	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:3449905G>A	ENST00000382774.3	+	13	1802	c.1687G>A	c.(1687-1689)Gcc>Acc	p.A563T	HGFAC_ENST00000511533.1_Missense_Mutation_p.A570T	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	563	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCCCCTGGTCGCCGACCACAA	0.657000													8	8					0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42363730	42363730	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:42363730G>A	ENST00000290472.3	-	16	1687	c.1593C>T	c.(1591-1593)ttC>ttT	p.F531F		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	531	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GGTTCAGGGAGAAAATGTTGC	0.567000													20	41					0	0	1	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79954527	79954527	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:79954527G>A	ENST00000306729.7	+	7	835	c.738G>A	c.(736-738)tcG>tcA	p.S246S	ASPSCR1_ENST00000580534.1_Silent_p.S169S|ASPSCR1_ENST00000306739.4_Silent_p.S246S	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	246							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TTCCTTTCTCGGGTGGGGGAC	0.662000			T	TFE3	alveolar soft part sarcoma								16	40					0	0	1	0	0
KIAA1432	57589	broad.mit.edu	37	9	5763494	5763494	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:5763494A>G	ENST00000414202.2	+	19	2658	c.2467A>G	c.(2467-2469)Acc>Gcc	p.T823A	KIAA1432_ENST00000251879.6_Missense_Mutation_p.T823A|KIAA1432_ENST00000418622.3_Missense_Mutation_p.T744A|KIAA1432_ENST00000381532.2_Missense_Mutation_p.T744A|KIAA1432_ENST00000449720.2_Missense_Mutation_p.T707A	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	823						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TGTGGAGAGAACCTCTCAGAT	0.478000													5	99					0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118969736	118969736	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:118969736G>A	ENST00000515256.1	+	3	465	c.293G>A	c.(292-294)cGc>cAc	p.R98H				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	98						intracellular	zinc ion binding	p.R98H(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						ACTCCTCCCCGCTCACAACAT	0.483000													23	66					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14024105	14024105	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:14024105G>A	ENST00000318003.7	+	5	744	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	CC2D1A_ENST00000589606.1_Missense_Mutation_p.R168Q	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	168					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CGCTACGATCGGGGGCTTAAA	0.607000													15	55					0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510727	5510727	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:5510727C>T	ENST00000322641.5	+	1	813	c.791C>T	c.(790-792)aCc>aTc	p.T264I	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTTCCTCACCCACCGCTTT	0.507000													36	71					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64496688	64496688	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:64496688A>G	ENST00000358025.3	+	44	7020	c.6790A>G	c.(6790-6792)Aca>Gca	p.T2264A	SYNE2_ENST00000554584.1_Missense_Mutation_p.T2264A|SYNE2_ENST00000344113.4_Missense_Mutation_p.T2264A|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2264					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCTGAATACTACATTGGACAA	0.403000													16	24					0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33487111	33487111	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:33487111C>T	ENST00000254260.3	-	11	1276	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	RHPN2_ENST00000400226.4_Missense_Mutation_p.R263H	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	414	BRO1.			HLRRAMA -> TCADHG (in Ref. 2; AAK58588).	signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					CATGGCTCTGCGCAAGTGGGA	0.607000													19	48					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30554609	30554609	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:30554609G>A	ENST00000383096.3	-	22	2607	c.2425C>T	c.(2425-2427)Cag>Tag	p.Q809*	CCDC178_ENST00000403303.1_Nonsense_Mutation_p.Q809*|CCDC178_ENST00000579947.1_Nonsense_Mutation_p.Q809*|CCDC178_ENST00000583930.1_Nonsense_Mutation_p.Q833*|CCDC178_ENST00000406524.2_Nonsense_Mutation_p.Q833*|CCDC178_ENST00000581852.1_Nonsense_Mutation_p.Q14*|CCDC178_ENST00000579916.1_Nonsense_Mutation_p.Q129*|CCDC178_ENST00000402325.1_Nonsense_Mutation_p.Q759*|CCDC178_ENST00000300227.8_Nonsense_Mutation_p.Q771*					coiled-coil domain containing 178																		AAGTGCTCCTGCCACAGTGTG	0.498000													13	36					0	0	1	0	0
NEDD9	4739	broad.mit.edu	37	6	11185821	11185821	+	Silent	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:11185821T>C	ENST00000379446.5	-	7	2245	c.2079A>G	c.(2077-2079)ctA>ctG	p.L693L	NEDD9_ENST00000504387.1_Silent_p.L693L|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	693					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TTGTGGTGGGTAGGCTCTGAG	0.507000													4	77					0	0	1	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220340962	220340962	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:220340962T>G	ENST00000358951.2	-	25	2978	c.2862A>C	c.(2860-2862)gaA>gaC	p.E954D		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	954					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GTTTTAATACTTCAGGGCTGA	0.388000													58	140					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112493823	112493823	+	Missense_Mutation	SNP	C	C	T	rs146358872	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:112493823C>T	ENST00000230538.7	-	12	1938	c.1541G>A	c.(1540-1542)cGg>cAg	p.R514Q	LAMA4_ENST00000424408.2_Missense_Mutation_p.R507Q|LAMA4_ENST00000522006.1_Missense_Mutation_p.R507Q|LAMA4_ENST00000389463.4_Missense_Mutation_p.R507Q	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	514	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CTCATGGTCCCGCTGCCTGGC	0.478000													16	39					0	0	1	0	0
MRPS27	23107	broad.mit.edu	37	5	71524028	71524028	+	Silent	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:71524028T>C	ENST00000515404.1	-	8	744	c.591A>G	c.(589-591)tcA>tcG	p.S197S	MRPS27_ENST00000261413.5_Intron|MRPS27_ENST00000513900.1_Intron|MRPS27_ENST00000457646.4_Intron|MRPS27_ENST00000522562.1_Intron			Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	0						mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		AATTTTATTATGAACTGGAAG	0.328000													8	13					0	0	1	0	0
LRRC52	440699	broad.mit.edu	37	1	165514022	165514022	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:165514022G>T	ENST00000294818.1	+	1	779	c.489G>T	c.(487-489)caG>caT	p.Q163H	RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	163						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CCGGCTTGCAGACCCTGGACA	0.517000													6	185					0.00116845	0.00118598	1	1	0
COL11A2	1302	broad.mit.edu	37	6	33157148	33157148	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:33157148G>A	ENST00000341947.2	-	2	408	c.181C>T	c.(181-183)Cga>Tga	p.R61*	COL11A2_ENST00000374714.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000395197.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000374712.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000361917.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000374713.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000374708.4_Nonsense_Mutation_p.R61*|COL11A2_ENST00000395194.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000357486.1_Nonsense_Mutation_p.R61*	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	61	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CGTGCCACTCGGTAGGCCACA	0.642000													5	77					0	0	1	0	0
AIFM3	150209	broad.mit.edu	37	22	21330573	21330573	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:21330573C>T	ENST00000399167.2	+	10	1117	c.877C>T	c.(877-879)Ctg>Ttg	p.L293L	AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000440238.2_Silent_p.L293L|AIFM3_ENST00000399163.2_Silent_p.L293L|AIFM3_ENST00000333607.6_Silent_p.L293L|AIFM3_ENST00000405089.1_Silent_p.L299L|AIFM3_ENST00000335375.5_Silent_p.L281L	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GTACAGCAAGCTGCTGCTGGC	0.607000													10	34					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5154041	5154041	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:5154041C>T	ENST00000252321.3	+	1	957	c.728C>T	c.(727-729)cCg>cTg	p.P243L		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	243						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TTCGAGTATCCGGAGAGCTCT	0.587000													50	132					0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36939479	36939479	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:36939479G>A	ENST00000373103.1	-	5	918	c.371C>T	c.(370-372)gCc>gTc	p.A124V	CSF3R_ENST00000361632.4_Missense_Mutation_p.A124V|CSF3R_ENST00000331941.5_Missense_Mutation_p.A124V|CSF3R_ENST00000373106.1_Missense_Mutation_p.A124V|CSF3R_ENST00000338937.5_Missense_Mutation_p.A124V|CSF3R_ENST00000373104.1_Missense_Mutation_p.A124V|CSF3R_ENST00000418048.2_Missense_Mutation_p.A124V|CSF3R_ENST00000440588.2_Missense_Mutation_p.A124V	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	124	Fibronectin type-III 1.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GTGGGGTATGGCTGGAGGGTC	0.607000													27	62					0	0	1	0	0
RP11-1055B8.7	0	broad.mit.edu	37	17	79412649	79412649	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:79412649C>T	ENST00000307745.7	+	14	3105	c.3105C>T	c.(3103-3105)gcC>gcT	p.A1035A																								TGCGCAGCGCCGAGGAAAAGA	0.692000													3	5					0	0	1	0	0
PSMF1	9491	broad.mit.edu	37	20	1106142	1106142	+	Splice_Site	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:1106142C>T	ENST00000335877.6	+	2	307	c.129_splice	c.e2-1	p.P44_splice	PSMF1_ENST00000246015.4_Splice_Site_p.P44_splice|PSMF1_ENST00000438768.2_Splice_Site_p.P44_splice|PSMF1_ENST00000381898.4_5'UTR|PSMF1_ENST00000333082.3_Splice_Site_p.P44_splice	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	44					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						TCTTCCCAGCCGGGTCCCAAT	0.458000													15	34					0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39521647	39521647	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:39521647C>T	ENST00000251646.3	-	4	796	c.747G>A	c.(745-747)acG>acA	p.T249T		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	249	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TGCCCACCTGCGTGGCGAACC	0.627000													17	57					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53104142	53104142	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:53104142G>A	ENST00000408890.4	+	1	794	c.778G>A	c.(778-780)Gcc>Acc	p.A260T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	260										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGTCCAGCCCGCCCCATCCGC	0.657000													8	110					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768008	57768008	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:57768008C>T	ENST00000371030.2	+	1	1934	c.1934C>T	c.(1933-1935)gCc>gTc	p.A645V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	645						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGCAAGAAAGCCAGGGAGGTG	0.567000													36	85					0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33459802	33459802	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:33459802C>T	ENST00000265112.3	+	11	1397	c.1086C>T	c.(1084-1086)agC>agT	p.S362S	TARS_ENST00000455217.2_Silent_p.S395S|TARS_ENST00000541634.1_Silent_p.S258S|TARS_ENST00000502553.1_Silent_p.S362S|TARS_ENST00000414361.2_Silent_p.S241S	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	362					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TCTATCAGAGCGAATATAGGA	0.418000													22	46					0	0	1	0	0
GPR35	2859	broad.mit.edu	37	2	241569781	241569781	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:241569781G>A	ENST00000319838.5	+	6	1354	c.412G>A	c.(412-414)Gcg>Acg	p.A138T	GPR35_ENST00000407714.1_Missense_Mutation_p.A138T|GPR35_ENST00000438013.2_Missense_Mutation_p.A169T|GPR35_ENST00000430267.1_Missense_Mutation_p.A138T|GPR35_ENST00000403859.1_Missense_Mutation_p.A138T	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	138						integral to plasma membrane	G-protein coupled receptor activity	p.A138T(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		GGCCGTGTGCGCGGTCCTCTG	0.706000													4	57					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90368409	90368409	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:90368409A>G	ENST00000405460.2	+	86	18394	c.18298A>G	c.(18298-18300)Aca>Gca	p.T6100A	GPR98_ENST00000425867.2_Missense_Mutation_p.T1761A	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6100					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGAGGAAGGACAAATGCTGC	0.428000													42	142					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94898626	94898626	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:94898626G>A	ENST00000289495.5	+	12	3027	c.2811G>A	c.(2809-2811)ccG>ccA	p.P937P	PPP1R9A_ENST00000433360.1_Silent_p.P977P|PPP1R9A_ENST00000433881.1_Intron|PPP1R9A_ENST00000456331.2_Silent_p.P955P|PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000424654.1_Silent_p.P955P	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	932	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding	p.P955P(1)|p.P977P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CCCTCACCCCGGTGGATAGCA	0.478000										HNSCC(28;0.073)			12	43					0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61914294	61914294	+	Silent	SNP	G	G	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:61914294G>C	ENST00000394818.3	+	15	2326	c.2124G>C	c.(2122-2124)cgG>cgC	p.R708R	INCENP_ENST00000278849.4_Silent_p.R704R	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	708					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						aggagcggcgggagcaggagc	0.756000													3	0					0	0	1	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35916052	35916052	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:35916052C>T	ENST00000325722.3	-	14	2355	c.2121G>A	c.(2119-2121)acG>acA	p.T707T	KIAA0319L_ENST00000373266.4_Silent_p.T144T|KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	707	PKD 5.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGCTGTGCTCGTGGGTAGGG	0.463000													34	84					0	0	1	0	0
EHD1	10938	broad.mit.edu	37	11	64627665	64627665	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:64627665C>T	ENST00000320631.3	-	3	900	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	EHD1_ENST00000359393.2_Missense_Mutation_p.V216M	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	216				V -> M (in Ref. 2; AAD45866).	blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TTCAGCACCACGCGGATCTTG	0.582000													14	58					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126723743	126723743	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:126723743C>T	ENST00000393409.2	+	5	1635	c.1635C>T	c.(1633-1635)gaC>gaT	p.D545D	PLXNA1_ENST00000251772.4_Silent_p.D522D	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	545					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CGCGGCGGGACGCCTGTGAGC	0.692000													12	60					0	0	1	0	0
IL6	3569	broad.mit.edu	37	7	22767150	22767150	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:22767150C>T	ENST00000404625.1	+	3	566	c.107C>T	c.(106-108)tCc>tTc	p.S36F	IL6_ENST00000401651.1_Intron|AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000258743.5_Missense_Mutation_p.S36F|IL6_ENST00000401630.3_Missense_Mutation_p.S13F|IL6_ENST00000420258.2_Missense_Mutation_p.S90F|IL6_ENST00000407492.1_Intron|IL6_ENST00000406575.1_Missense_Mutation_p.S36F			P05231	IL6_HUMAN	interleukin 6 (interferon, beta 2)	36					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	GGAGAAGATTCCAAAGATGTA	0.587000													32	77					0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27688651	27688651	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:27688651G>A	ENST00000260570.3	-	17	1894	c.1791C>T	c.(1789-1791)atC>atT	p.I597I		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	597					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TTCCAAACTCGATGAGGCCCT	0.552000													197	418					0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113534571	113534571	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:113534571G>A	ENST00000257600.3	+	9	2193	c.1690G>A	c.(1690-1692)Ggc>Agc	p.G564S	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	564					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CTTCACTATCGGCACGTCCAA	0.632000													9	24					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108391473	108391473	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:108391473C>T	ENST00000361582.3	+	23	2789	c.2559C>T	c.(2557-2559)aaC>aaT	p.N853N	DZIP3_ENST00000463306.1_Silent_p.N853N	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	853					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GCAAACTGAACGCAGAAACTA	0.393000													31	54					0	0	1	0	0
PTK2	5747	broad.mit.edu	37	8	141745435	141745435	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:141745435G>A	ENST00000522684.1	-	22	2174	c.1945C>T	c.(1945-1947)Cct>Tct	p.P649S	PTK2_ENST00000538769.1_Missense_Mutation_p.P317S|PTK2_ENST00000517887.1_Missense_Mutation_p.P693S|PTK2_ENST00000521059.1_Missense_Mutation_p.P649S|PTK2_ENST00000535192.1_Missense_Mutation_p.P649S|PTK2_ENST00000519465.1_Missense_Mutation_p.P277S|PTK2_ENST00000340930.3_Missense_Mutation_p.P649S|PTK2_ENST00000519419.1_Missense_Mutation_p.P693S|PTK2_ENST00000395218.2_Missense_Mutation_p.P649S	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	649	Protein kinase.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TAGAGGGTAGGAGGACAATTT	0.488000													18	44					0	0	1	0	0
KIF7	374654	broad.mit.edu	37	15	90172797	90172797	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:90172797G>A	ENST00000394412.3	-	17	3402	c.3326C>T	c.(3325-3327)aCg>aTg	p.T1109M		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1109					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CTCTCGGAGCGTCACCACCTG	0.587000													28	62					0	0	1	0	0
PLEKHA8	84725	broad.mit.edu	37	7	30094419	30094419	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:30094419G>A	ENST00000449726.1	+	8	1241	c.891G>A	c.(889-891)ccG>ccA	p.P297P	PLEKHA8_ENST00000396259.1_Silent_p.P297P|PLEKHA8_ENST00000258679.7_Silent_p.P297P|PLEKHA8_ENST00000396257.2_Silent_p.P297P	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	297					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						GTTGCTCTCCGGAATGCCTCT	0.408000													23	86					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65413405	65413405	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:65413405C>T	ENST00000519389.1	+	8	1635	c.1456C>T	c.(1456-1458)Cga>Tga	p.R486*	HEPH_ENST00000336279.5_Nonsense_Mutation_p.R165*|HEPH_ENST00000343002.2_Nonsense_Mutation_p.R432*|HEPH_ENST00000419594.1_Nonsense_Mutation_p.R435*|HEPH_ENST00000441993.2_Nonsense_Mutation_p.R435*|HEPH_ENST00000374727.3_Nonsense_Mutation_p.R435*			Q9BQS7	HEPH_HUMAN	hephaestin	432	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTGGAAAGTGCGATATGAAGC	0.368000													3	15					0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35250723	35250723	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:35250723T>C	ENST00000329285.7	-	4	1356	c.983A>G	c.(982-984)cAa>cGa	p.Q328R		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	328					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)			CCTCATATGTTGAGCAAATGA	0.428000													19	47					0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52882150	52882150	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:52882150G>A	ENST00000330722.6	-	7	1454	c.1386C>T	c.(1384-1386)atC>atT	p.I462I		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	462	Coil 2.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGTAGGTGGCGATCTCCACGT	0.597000													35	128					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48733951	48733951	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:48733951A>C	ENST00000316623.5	-	50	6585	c.6130T>G	c.(6130-6132)Ttt>Gtt	p.F2044V		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2044	EGF-like 35; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GACAAGGAAAACCCTTCTGGA	0.438000													10	174					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102503424	102503424	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:102503424A>G	ENST00000369138.1	+	15	3021	c.2531A>G	c.(2530-2532)tAc>tGc	p.Y844C	GRIK2_ENST00000369137.3_Missense_Mutation_p.Y768C|GRIK2_ENST00000369134.4_Missense_Mutation_p.Y795C|GRIK2_ENST00000318991.6_Missense_Mutation_p.Y844C|GRIK2_ENST00000413795.1_Missense_Mutation_p.Y844C|GRIK2_ENST00000421544.1_Missense_Mutation_p.Y844C	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	844					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GAATTTTTATACAAATCCAAA	0.373000													10	149					0	0	1	0	0
URGCP	55665	broad.mit.edu	37	7	43916458	43916458	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:43916458G>A	ENST00000336086.6	-	4	4711	c.2475C>T	c.(2473-2475)tgC>tgT	p.C825C	URGCP_ENST00000443736.1_Silent_p.C825C|URGCP_ENST00000402306.3_Silent_p.C859C|URGCP_ENST00000447717.3_Silent_p.C825C|URGCP_ENST00000223341.7_Silent_p.C825C|URGCP_ENST00000453200.1_Silent_p.C868C|URGCP_ENST00000497914.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	868					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCTCAGGGTCGCAGAAGGCCA	0.617000													23	36					0	0	1	0	0
PIWIL2	55124	broad.mit.edu	37	8	22140592	22140592	+	Silent	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:22140592A>G	ENST00000356766.6	+	5	619	c.471A>G	c.(469-471)ggA>ggG	p.G157G	PIWIL2_ENST00000521356.1_Silent_p.G157G|PIWIL2_ENST00000454009.2_Silent_p.G157G	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	157					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)		TACCACTGGGAAGAGCAGCAG	0.532000													22	56					0	0	1	0	0
PDIA5	10954	broad.mit.edu	37	3	122811251	122811251	+	Silent	SNP	G	G	A	rs139086659	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:122811251G>A	ENST00000316218.7	+	3	314	c.219G>A	c.(217-219)gcG>gcA	p.A73A		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	73					cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TGGCCCAGGCGGTGAAAGGAC	0.527000													27	56					0	0	1	0	0
WDHD1	11169	broad.mit.edu	37	14	55433311	55433311	+	Missense_Mutation	SNP	C	C	T	rs145612447		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:55433311C>T	ENST00000360586.3	-	18	2257	c.2192G>A	c.(2191-2193)cGt>cAt	p.R731H	WDHD1_ENST00000421192.1_Missense_Mutation_p.R608H|WDHD1_ENST00000359167.4_Missense_Mutation_p.R249H|WDHD1_ENST00000420358.2_Missense_Mutation_p.R608H	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	731						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						TATAACTGAACGCCAAAATTG	0.313000													6	16					0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48620981	48620981	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:48620981C>T	ENST00000263274.7	-	26	2916	c.2497G>A	c.(2497-2499)Gac>Aac	p.D833N	LIG1_ENST00000427526.2_Missense_Mutation_p.D802N|LIG1_ENST00000536218.1_Missense_Mutation_p.D765N	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	833					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	AGCCAGTGGTCGGGAATCACA	0.642000								Nucleotide excision repair (NER)					10	28					0	0	1	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31692135	31692135	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:31692135G>A	ENST00000360542.3	-	1	472	c.219C>T	c.(217-219)acC>acT	p.T73T		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	73						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						CAAGATTGCCGGTCTCACAGT	0.532000													67	151					0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57173319	57173319	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:57173319G>A	ENST00000371244.4	+	9	1658	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	531					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GTTTCACCTCGCCTGGGCAGT	0.443000													34	120					0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180914516	180914516	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:180914516G>A	ENST00000367588.4	+	9	3420	c.3365G>A	c.(3364-3366)cGc>cAc	p.R1122H	KIAA1614_ENST00000367587.1_Missense_Mutation_p.R743H|KIAA1614_ENST00000461346.1_3'UTR|RP11-46A10.5_ENST00000358073.2_RNA	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	1122										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						ACCGTGGGCCGCCTGGTGGAG	0.692000													20	54					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2336814	2336814	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:2336814G>A	ENST00000301732.5	-	22	3859	c.3159C>T	c.(3157-3159)gcC>gcT	p.A1053A	ABCA3_ENST00000382381.3_Silent_p.A995A	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1053					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CGACGGCCAGGGCAGTGGCTG	0.632000													5	193					0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35556186	35556186	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:35556186G>A	ENST00000262626.2	+	10	1669	c.844G>A	c.(844-846)Ggc>Agc	p.G282S	HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Missense_Mutation_p.G124S|HPN_ENST00000392226.1_Missense_Mutation_p.G282S	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	282	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CCCAGCTGCCGGCCAGGCCCT	0.617000													15	52					0	0	1	0	0
ZNF765	91661	broad.mit.edu	37	19	53911653	53911653	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:53911653A>G	ENST00000396408.3	+	4	962	c.845A>G	c.(844-846)cAg>cGg	p.Q282R	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		ACCTTCAGTCAGACATATTAC	0.413000													36	86					0	0	1	0	0
TRAF1	7185	broad.mit.edu	37	9	123675925	123675925	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:123675925C>T	ENST00000373887.3	-	5	2831	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	TRAF1_ENST00000546084.1_Missense_Mutation_p.R7Q|TRAF1_ENST00000540010.1_Missense_Mutation_p.R129Q	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	129					apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						ACAGCCCAGCCGGGCCTTCCA	0.627000													4	101					0	0	1	0	0
ZBTB12	221527	broad.mit.edu	37	6	31867788	31867788	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:31867788C>T	ENST00000375527.2	-	2	1470	c.1295G>A	c.(1294-1296)cGg>cAg	p.R432Q	C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						CTTGAGGTGCCGCCTAATGGC	0.647000													17	30					0	0	1	0	0
SEPT12	124404	broad.mit.edu	37	16	4828125	4828125	+	Silent	SNP	C	C	T	rs148619854		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:4828125C>T	ENST00000268231.8	-	9	1100	c.837G>A	c.(835-837)gcG>gcA	p.A279A	SEPT12_ENST00000396693.5_Silent_p.A233A	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	279					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	p.A279A(1)		NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						ATTCACAGTGCGCCATGTTCT	0.587000													10	20					0	0	1	0	0
PLCXD2	257068	broad.mit.edu	37	3	111426772	111426772	+	Splice_Site	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:111426772G>T	ENST00000393934.3	+	2	733		c.e2-1		PLCXD2_ENST00000477665.1_Splice_Site	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2						intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						CCTTTGTACAGGCTCACATGA	0.453000													3	16					1	1	1	1	0
GAS2L2	246176	broad.mit.edu	37	17	34077124	34077124	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:34077124G>T	ENST00000254466.6	-	2	626	c.599C>A	c.(598-600)cCc>cAc	p.P200H	GAS2L2_ENST00000587565.1_Splice_Site_p.P184_splice	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	200					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAAGTGGCAGGGCTGGCGCCT	0.711000													18	43					6.49762e-13	6.77958e-13	1	1	0
BPIFB6	128859	broad.mit.edu	37	20	31619501	31619501	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:31619501G>A	ENST00000349552.1	+	1	48	c.48G>A	c.(46-48)acG>acA	p.T16T		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	16			T -> M (in dbSNP:rs17301126).			extracellular region	lipid binding										TGACTGGCACGCGAGCTGACC	0.667000													17	26					0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57777468	57777468	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:57777468G>A	ENST00000309042.7	+	2	978	c.664G>A	c.(664-666)Ggc>Agc	p.G222S	REST_ENST00000514063.1_3'UTR	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	222					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TGACCGCTGCGGCTACAATAC	0.498000													20	40					0	0	1	0	0
H2AFJ	55766	broad.mit.edu	37	12	14927707	14927707	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:14927707G>A	ENST00000544848.1	+	1	438	c.303G>A	c.(301-303)gtG>gtA	p.V101V		NM_177925.2	NP_808760.1	Q9BTM1	H2AJ_HUMAN	H2A histone family, member J	101					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1)	5						TGGGCAAAGTGACCATCGCTC	0.607000													5	152					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192622	152192622	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:152192622C>T	ENST00000368801.2	-	3	1558	c.1483G>A	c.(1483-1485)Ggc>Agc	p.G495S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	495					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCTAGAGCCGTGTTGTCCG	0.542000													5	416					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	233990478	233990478	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:233990478G>A	ENST00000359570.5	+	4	373	c.373G>A	c.(373-375)Gag>Aag	p.E125K	INPP5D_ENST00000538935.1_Missense_Mutation_p.E125K|INPP5D_ENST00000474278.1_3'UTR			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	125					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GTCTCCACCCGAGCTGCCCCC	0.612000													5	23					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154030638	154030638	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:154030638G>A	ENST00000368559.3	-	22	3105	c.3034C>T	c.(3034-3036)Cgc>Tgc	p.R1012C	NUP210L_ENST00000271854.3_Missense_Mutation_p.R1012C	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1012						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGGAATGGGCGTTTGGAAGAG	0.393000													40	89					0	0	1	0	0
KLHL36	79786	broad.mit.edu	37	16	84693388	84693388	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:84693388G>A	ENST00000564996.1	+	4	1301	c.1160G>A	c.(1159-1161)cGt>cAt	p.R387H	KLHL36_ENST00000258157.5_Intron	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	387										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						AACCAGCGCCGTGTGGATTTC	0.577000													17	44					0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7837803	7837803	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:7837803G>A	ENST00000380262.3	+	3	1301	c.376G>A	c.(376-378)Gct>Act	p.A126T	CNTROB_ENST00000563694.1_Missense_Mutation_p.A126T|CNTROB_ENST00000565740.1_Missense_Mutation_p.A126T|CNTROB_ENST00000380255.3_Missense_Mutation_p.A126T	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	126					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CATTCCTGGCGCTGGCTCAGA	0.542000													13	26					0	0	1	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40294929	40294929	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:40294929C>T	ENST00000263791.5	+	22	3218	c.3175C>T	c.(3175-3177)Cgt>Tgt	p.R1059C	EIF2AK4_ENST00000559311.1_3'UTR|EIF2AK4_ENST00000382727.2_Missense_Mutation_p.R1031C	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1059	Histidyl-tRNA synthetase-like.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	p.R1059S(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CTTCTCAATCCGTACAGCCAA	0.383000													41	88					0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49170939	49170939	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:49170939C>T	ENST00000307885.4	-	5	2018	c.1324G>A	c.(1324-1326)Gac>Aac	p.D442N	ADCY6_ENST00000357869.3_Missense_Mutation_p.D442N|ADCY6_ENST00000550422.1_Missense_Mutation_p.D442N	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	442					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TGGGCATGGTCGGCCCGGGCC	0.577000													60	153					0	0	1	0	0
AP1M2	10053	broad.mit.edu	37	19	10690405	10690405	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:10690405C>T	ENST00000590923.1	-	7	892	c.809G>A	c.(808-810)cGc>cAc	p.R270H	AP1M2_ENST00000250244.6_Missense_Mutation_p.R268H			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	268	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			GGTGCTGAGGCGGTATGACAT	0.607000													33	92					0	0	1	0	0
SLC5A10	125206	broad.mit.edu	37	17	18916805	18916805	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:18916805G>A	ENST00000317977.6	+	9	1435	c.864G>A	c.(862-864)aaG>aaA	p.K288K	SLC5A10_ENST00000395643.2_Silent_p.K328K|SLC5A10_ENST00000395645.3_Silent_p.K355K|SLC5A10_ENST00000395647.2_Silent_p.K371K|SLC5A10_ENST00000395642.1_Silent_p.K288K|SLC5A10_ENST00000417251.2_Intron			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	355					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CCTACCCCAAGCTGGTCATGG	0.652000													21	58					0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6519838	6519838	+	Silent	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:6519838C>A	ENST00000254579.6	+	3	957	c.393C>A	c.(391-393)gtC>gtA	p.V131V	DNHD1_ENST00000354685.3_Silent_p.V131V|DNHD1_ENST00000527990.2_Silent_p.V131V|DNHD1_ENST00000477562.1_3'UTR	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	131					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GTGCCATTGTCCAGGCCTTTC	0.587000													8	221					0.000157383	0.000160498	1	1	0
PUS10	150962	broad.mit.edu	37	2	61175177	61175177	+	Splice_Site	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:61175177C>T	ENST00000316752.6	-	16	1713		c.e16+1		PUS10_ENST00000407787.1_Splice_Site	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10						pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			TGGAAGGATACGTGCCAGCCT	0.552000													30	113					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61613357	61613357	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:61613357G>A	ENST00000583023.1	+	6	1440	c.1429G>A	c.(1429-1431)Gtg>Atg	p.V477M	KCNH6_ENST00000580652.1_Missense_Mutation_p.V477M|KCNH6_ENST00000314672.5_Missense_Mutation_p.V477M|KCNH6_ENST00000456941.2_Missense_Mutation_p.V424M|KCNH6_ENST00000581784.1_Missense_Mutation_p.V424M	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	477					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CCTCACCAGCGTGGGCTTCGG	0.602000													23	50					0	0	1	0	0
RHOBTB3	22836	broad.mit.edu	37	5	95091242	95091242	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:95091242C>T	ENST00000379982.3	+	6	1333	c.825C>T	c.(823-825)tgC>tgT	p.C275C	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	275	BTB 1.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		TCGTTCTCTGCGCTGTAAGCC	0.428000													8	120					0	0	1	0	0
FKBP8	23770	broad.mit.edu	37	19	18648497	18648497	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:18648497C>T	ENST00000597960.2	-	6	979	c.859G>A	c.(859-861)Gac>Aac	p.D287N	FKBP8_ENST00000596558.1_Missense_Mutation_p.D286N|FKBP8_ENST00000453489.2_Missense_Mutation_p.D315N|FKBP8_ENST00000222308.3_Missense_Mutation_p.D287N|FKBP8_ENST00000544835.2_Missense_Mutation_p.D127N			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	286					apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						CGGTAGTGGTCGAGCTTCAGC	0.607000													13	45					0	0	1	0	0
SPICE1	152185	broad.mit.edu	37	3	113184565	113184565	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:113184565G>A	ENST00000295872.4	-	11	1481	c.1222C>T	c.(1222-1224)Cga>Tga	p.R408*		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	408					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						ATGAGCTCTCGATGATCACCT	0.388000													18	54					0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91769874	91769874	+	Silent	SNP	C	C	T	rs148654261		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:91769874C>T	ENST00000394232.1	+	2	851	c.381C>T	c.(379-381)ttC>ttT	p.F127F	SV2B_ENST00000545111.2_Intron|SV2B_ENST00000330276.4_Silent_p.F127F|SV2B_ENST00000557291.1_Intron	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	127					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TGGAAGTGTTCGTGGTGAGTT	0.512000													10	40					0	0	1	0	0
CLTA	1211	broad.mit.edu	37	9	36211633	36211633	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:36211633C>T	ENST00000433436.2	+	7	810	c.609C>T	c.(607-609)gaC>gaT	p.D203D	CLTA_ENST00000345519.5_Silent_p.D173D|CLTA_ENST00000538225.1_Silent_p.D185D|CLTA_ENST00000396603.2_Silent_p.D191D|CLTA_ENST00000470744.1_Silent_p.D185D|CLTA_ENST00000466396.1_Silent_p.D151D|CLTA_ENST00000540080.1_Silent_p.D121D|CLTA_ENST00000242285.6_Silent_p.D203D	NM_007096.3	NP_009027.1	P09496	CLCA_HUMAN	clathrin, light chain A	203					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol	structural molecule activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	6			STAD - Stomach adenocarcinoma(86;0.228)			ATGACATTGACGAGTCGTCCC	0.537000													40	125					0	0	1	0	0
PDE4A	5141	broad.mit.edu	37	19	10570423	10570423	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:10570423G>A	ENST00000380702.2	+	11	1287	c.1287G>A	c.(1285-1287)acG>acA	p.T429T	PDE4A_ENST00000352831.6_Silent_p.T451T|PDE4A_ENST00000440014.2_Silent_p.T390T|PDE4A_ENST00000293683.5_Silent_p.T425T|PDE4A_ENST00000592685.1_Silent_p.T429T|PDE4A_ENST00000344979.3_Silent_p.T212T			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	451	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	TGCTGGCCACGCCTGCACTAG	0.587000													13	36					0	0	1	0	0
PCDHA3	0	broad.mit.edu	37	5	140182290	140182290	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140182290C>T	ENST00000522353.2	+	1	1508	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A503V	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGAGCGCGCGCTGTCGAGC	0.682000													48	115					0	0	1	0	0
AVPR1A	0	broad.mit.edu	37	12	63543657	63543657	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:63543657G>A	ENST00000299178.2	-	1	1065	c.960C>T	c.(958-960)tcC>tcT	p.S320S		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	320					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	CGGTCCAGACGGACATGGGAT	0.532000													31	76					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123419105	123419105	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:123419105G>A	ENST00000360772.3	-	19	3588	c.3210C>T	c.(3208-3210)gaC>gaT	p.D1070D	MYLK_ENST00000346322.5_Silent_p.D1001D|MYLK_ENST00000360304.3_Silent_p.D1070D|MYLK_ENST00000359169.1_Silent_p.D1070D|MYLK_ENST00000475616.1_Silent_p.D1070D			Q15746	MYLK_HUMAN	myosin light chain kinase	1070	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CATTCTTAACGTCTTTCTTGA	0.522000													90	240					0	0	1	0	0
MYL9	10398	broad.mit.edu	37	20	35176565	35176565	+	Silent	SNP	C	C	T	rs7273824		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:35176565C>T	ENST00000279022.2	+	3	419	c.315C>T	c.(313-315)aaC>aaT	p.N105N	MYL9_ENST00000346786.2_Intron|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	105	EF-hand 2.				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TGATTCGCAACGCCTTTGCCT	0.617000													11	35					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78319445	78319445	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:78319445G>A	ENST00000582970.1	+	29	7453	c.7310G>A	c.(7309-7311)cGg>cAg	p.R2437Q	RNF213_ENST00000508628.2_Missense_Mutation_p.R2486Q|RNF213_ENST00000336301.6_Missense_Mutation_p.R510Q	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGCGACCTGCGGCGTGGTGGT	0.522000													6	118					0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781963	128781963	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:128781963C>T	ENST00000529694.1	+	2	1171	c.795C>T	c.(793-795)gaC>gaT	p.D265D	KCNJ5_ENST00000533599.1_Silent_p.D265D|KCNJ5_ENST00000338350.4_Silent_p.D265D	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	265					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	ACACGGGCGACGACCGCCTCT	0.567000													21	79					0	0	1	0	0
GDPD1	284161	broad.mit.edu	37	17	57335125	57335125	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:57335125T>C	ENST00000284116.4	+	6	637	c.500T>C	c.(499-501)gTg>gCg	p.V167A	GDPD1_ENST00000581140.1_Missense_Mutation_p.V167A|GDPD1_ENST00000581276.1_Missense_Mutation_p.V167A	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	167	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					TCAGAGTTGGTGAAGCGGTAT	0.333000													11	52					0	0	1	0	0
ZNF263	10127	broad.mit.edu	37	16	3339479	3339479	+	Nonsense_Mutation	SNP	C	C	T	rs139107623		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:3339479C>T	ENST00000219069.5	+	6	1849	c.973C>T	c.(973-975)Cga>Tga	p.R325*	ZNF263_ENST00000538765.1_5'UTR|ZNF263_ENST00000574253.1_Silent_p.P158P	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	325					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						TGACCAGGCCCGAGGGGAGGT	0.597000													32	96					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133196530	133196530	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:133196530G>A	ENST00000388996.4	-	3	982	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	KCNQ3_ENST00000521134.1_Missense_Mutation_p.R68W|KCNQ3_ENST00000519445.1_Missense_Mutation_p.R188W	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	188					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R188W(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AGTCGGCCCCGCCAGCCTTTG	0.537000													40	115					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16359636	16359636	+	Missense_Mutation	SNP	G	G	A	rs147683391		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:16359636G>A	ENST00000354981.2	-	19	3168	c.3011C>T	c.(3010-3012)gCg>gTg	p.A1004V	KIF16B_ENST00000408042.1_Missense_Mutation_p.A1004V|KIF16B_ENST00000378003.2_Missense_Mutation_p.A230V|KIF16B_ENST00000355755.3_Missense_Mutation_p.A1004V	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1004	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCGCTCCAGCGCCTCTCTCTG	0.552000													54	121					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26945913	26945913	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:26945913G>A	ENST00000528896.2	-	32	5793	c.5719C>T	c.(5719-5721)Cgt>Tgt	p.R1907C	KIAA0100_ENST00000544884.1_Missense_Mutation_p.R1764C|KIAA0100_ENST00000579924.2_5'UTR|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R1764C	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1907						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TCAGTGCGACGGACCACACTC	0.512000													17	84					0	0	1	0	0
KXD1	79036	broad.mit.edu	37	19	18679399	18679399	+	Silent	SNP	C	C	T	rs144609970	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:18679399C>T	ENST00000602094.1	+	5	1949	c.489C>T	c.(487-489)aaC>aaT	p.N163N	KXD1_ENST00000599319.1_Silent_p.N163N|KXD1_ENST00000601630.1_Silent_p.N182N|KXD1_ENST00000222307.4_Silent_p.N163N|AC005253.4_ENST00000593791.1_RNA|KXD1_ENST00000540691.1_Silent_p.N163N|KXD1_ENST00000595073.1_Silent_p.N163N|KXD1_ENST00000539106.1_Silent_p.N163N			Q9BQD3	CS050_HUMAN	KxDL motif containing 1	163							protein binding										CAGCCATCAACGGCCGCAGCC	0.672000													30	92					0	0	1	0	0
SMARCD2	6603	broad.mit.edu	37	17	61911540	61911540	+	Missense_Mutation	SNP	C	C	T	rs147427461	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:61911540C>T	ENST00000448276.2	-	8	1335	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H	SMARCD2_ENST00000225742.9_Missense_Mutation_p.R282H|SMARCD2_ENST00000323347.10_Missense_Mutation_p.R309H	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	357	SWIB.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						GCGGAAGTAACGGTTGCAGTT	0.602000											OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	13					0	0	1	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113212589	113212589	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:113212589C>T	ENST00000261965.3	-	5	655	c.469G>A	c.(469-471)Gtg>Atg	p.V157M	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.V157M	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	157					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CTGCTGCCCACGCTGCCGGAG	0.622000													24	56					0	0	1	0	0
JAG2	3714	broad.mit.edu	37	14	105609046	105609046	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:105609046C>T	ENST00000331782.3	-	26	4106	c.3703G>A	c.(3703-3705)Gcc>Acc	p.A1235T	JAG2_ENST00000347004.2_Missense_Mutation_p.A1197T	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1235				A -> V (in Ref. 2; AAB61285).	auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TCCTTGCCGGCGTAGCGGGCC	0.716000													6	8					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28386876	28386876	+	Splice_Site	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:28386876C>A	ENST00000261609.7	-	77	11925		c.e77+1			NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2						DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AATATAATAACCTGTTCATCC	0.418000													45	117					2.95478e-19	3.09494e-19	1	1	0
SLAMF8	56833	broad.mit.edu	37	1	159799839	159799839	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:159799839G>A	ENST00000289707.5	+	2	373	c.224G>A	c.(223-225)cGc>cAc	p.R75H	SLAMF8_ENST00000471286.1_3'UTR|SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	75						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					TACCATTCCCGCTTCCTGGGC	0.607000													15	217					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101755543	101755543	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:101755543C>T	ENST00000251127.6	-	26	3118	c.3037G>A	c.(3037-3039)Ggc>Agc	p.G1013S		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1013						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.G1013C(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCTTGAAGCCGCTGAAAAGT	0.453000													8	149					0	0	1	0	0
ZNF530	348327	broad.mit.edu	37	19	58117717	58117717	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:58117717C>T	ENST00000332854.6	+	3	1044	c.824C>T	c.(823-825)tCa>tTa	p.S275L	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGTGGGAAATCATTTAGTCGC	0.433000													22	49					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34649163	34649163	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:34649163C>T	ENST00000537011.1	+	8	3336	c.2954C>T	c.(2953-2955)aCa>aTa	p.T985I	NUTM1_ENST00000438749.3_Missense_Mutation_p.T975I|NUTM1_ENST00000333756.4_Missense_Mutation_p.T957I					NUT midline carcinoma, family member 1																		GAGTCTTACACAACTGGGACT	0.483000													16	39					0	0	1	0	0
DEGS2	123099	broad.mit.edu	37	14	100615918	100615918	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:100615918A>G	ENST00000305631.5	-	2	787	c.212T>C	c.(211-213)tTc>tCc	p.F71S	DEGS2_ENST00000557117.1_5'UTR|DEGS2_ENST00000553834.1_Intron	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN	delta(4)-desaturase, sphingolipid 2	71					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GTAGGCCCAGAACAGCAGCCA	0.706000													6	19					0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140361795	140361795	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:140361795G>A	ENST00000406427.1	-	26	3349	c.3013C>T	c.(3013-3015)Cgg>Tgg	p.R1005W	PNPLA7_ENST00000371457.1_Missense_Mutation_p.R586W|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000277531.4_Missense_Mutation_p.R980W	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	980	Patatin.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCCCGGATCCGCATCTGGCTG	0.677000													13	32					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241737144	241737144	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:241737144G>A	ENST00000498729.2	-	2	272	c.26C>T	c.(25-27)gCg>gTg	p.A9V	KIF1A_ENST00000320389.7_Missense_Mutation_p.A9V	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	9	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GACCCGCACCGCCACCTTCAC	0.597000													6	24					0	0	1	0	0
ABTB1	80325	broad.mit.edu	37	3	127396381	127396381	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:127396381C>T	ENST00000468137.1	+	8	1026	c.410C>T	c.(409-411)gCt>gTt	p.A137V	ABTB1_ENST00000393363.3_Missense_Mutation_p.A137V|ABTB1_ENST00000232744.8_Missense_Mutation_p.A279V|ABTB1_ENST00000453791.2_Missense_Mutation_p.A137V			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	279	BTB 1.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						TTCCGAGTGGCTGGCTGCAGC	0.632000													24	81					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95115421	95115421	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:95115421C>T	ENST00000371501.4	-	31	3489	c.3367G>A	c.(3367-3369)Gga>Aga	p.G1123R	MYOF_ENST00000371502.4_Missense_Mutation_p.G1123R|MYOF_ENST00000359263.4_Missense_Mutation_p.G1123R|MYOF_ENST00000358334.5_Missense_Mutation_p.G1110R			Q9NZM1	MYOF_HUMAN	myoferlin	1123					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GTGTTTGCTCCGAACACAGTG	0.408000													6	246					0	0	1	0	0
C9orf24	84688	broad.mit.edu	37	9	34381368	34381368	+	Splice_Site	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:34381368G>A	ENST00000297623.2	-	4	669	c.472_splice	c.e4+1	p.Y157_splice	C9orf24_ENST00000379124.1_Splice_Site_p.Y22_splice|C9orf24_ENST00000379127.1_Splice_Site_p.Y22_splice|C9orf24_ENST00000379133.3_Splice_Site_p.Y22_splice|C9orf24_ENST00000379126.3_Splice_Site_p.Y22_splice	NM_032596.3	NP_115985.2	Q8NCR6	CI024_HUMAN	chromosome 9 open reading frame 24	157										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		ACTCTTTACCGTAGGCATTGA	0.627000													55	135					0	0	1	0	0
IGKV1D-16	0	broad.mit.edu	37	2	90139530	90139530	+	RNA	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:90139530C>T	ENST00000492446.1	+	0	328																											CAGCAGCCTGCAGCCTGAAGA	0.493000													59	100					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107602600	107602600	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:107602600G>A	ENST00000374736.3	-	9	1408	c.1014C>T	c.(1012-1014)ggC>ggT	p.G338G		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	338					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTTCCTCAGTGCCATTGCCTC	0.542000													6	72					0	0	1	0	0
PWWP2B	170394	broad.mit.edu	37	10	134218871	134218871	+	Silent	SNP	C	C	T	rs145952219	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:134218871C>T	ENST00000305233.5	+	2	926	c.867C>T	c.(865-867)gaC>gaT	p.D289D	PWWP2B_ENST00000368609.4_Silent_p.D289D	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	289										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CGCAGGACGACGGCAGCCAGG	0.701000													16	48					0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47649198	47649198	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:47649198C>T	ENST00000398742.2	+	5	748	c.699C>T	c.(697-699)aaC>aaT	p.N233N	GPR111_ENST00000507065.1_Silent_p.N233N|GPR111_ENST00000296862.1_Silent_p.N301N			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	301					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTGGAGATAACATTGGAAAAA	0.388000													33	82					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127348	152127348	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:152127348G>A	ENST00000316073.3	-	3	2291	c.2227C>T	c.(2227-2229)Cga>Tga	p.R743*		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	743	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGTCTGTCTCGTCTCTGATGG	0.522000													6	401					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53785896	53785896	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:53785896G>A	ENST00000288139.3	+	29	3815	c.3697G>A	c.(3697-3699)Gtc>Atc	p.V1233I	CACNA1D_ENST00000350061.5_Missense_Mutation_p.V1213I|CACNA1D_ENST00000540742.1_Missense_Mutation_p.V120I|CACNA1D_ENST00000422281.2_Missense_Mutation_p.V1213I	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1213					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CATGATGTTTGTCCTCATCAT	0.527000													17	197					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54526456	54526456	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:54526456C>T	ENST00000566473.2	+	10	1125	c.1125C>T	c.(1123-1125)gaC>gaT	p.D375D	ANKFN1_ENST00000318698.2_Silent_p.D375D			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	375										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						AAGACTATGACGACAGAGAGC	0.483000													16	52					0	0	1	0	0
ETV1	2115	broad.mit.edu	37	7	13949263	13949263	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:13949263A>T	ENST00000343495.5	-	10	1618	c.880T>A	c.(880-882)Ttc>Atc	p.F294I	ETV1_ENST00000430479.1_Missense_Mutation_p.F312I|ETV1_ENST00000405218.2_Missense_Mutation_p.F312I|ETV1_ENST00000403685.1_Missense_Mutation_p.F294I|ETV1_ENST00000405192.2_Missense_Mutation_p.F289I|ETV1_ENST00000399357.3_Missense_Mutation_p.F209I|ETV1_ENST00000242066.5_Missense_Mutation_p.F294I|ETV1_ENST00000420159.2_Missense_Mutation_p.F254I|ETV1_ENST00000403527.1_Missense_Mutation_p.F272I|ETV1_ENST00000405358.4_Missense_Mutation_p.F326I			P50549	ETV1_HUMAN	ets variant 1	312					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTACCATCGAATTTTTCTGGG	0.383000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								6	140					0	0	1	0	0
NUDCD3	23386	broad.mit.edu	37	7	44431997	44431997	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:44431997G>A	ENST00000355451.6	-	5	1153	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C	NUDCD3_ENST00000460110.1_5'UTR	NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	292										endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						GCCATGGAGCGCTCCTTGTTG	0.572000													47	119					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	30002649	30002649	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:30002649G>A	ENST00000279394.3	+	19	3313	c.2910G>A	c.(2908-2910)ccG>ccA	p.P970P		NM_004783.3	NP_004774.1	Q9UL54	TAOK2_HUMAN	TAO kinase 2	859	Leu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGCGTCAGCCGTCTCTGCTGG	0.711000													4	45					0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72420933	72420933	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:72420933G>A	ENST00000359373.5	-	11	2356	c.1505C>T	c.(1504-1506)aCg>aTg	p.T502M	ARAP1_ENST00000429686.1_Missense_Mutation_p.T257M|ARAP1_ENST00000393609.3_Missense_Mutation_p.T502M|ARAP1_ENST00000455638.2_Missense_Mutation_p.T502M|ARAP1_ENST00000393605.3_Missense_Mutation_p.T262M|ARAP1_ENST00000334211.8_Missense_Mutation_p.T257M|ARAP1_ENST00000426523.1_Missense_Mutation_p.T257M			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	502	PH 2.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GCGGTAGGGCGTGGTGAGGTC	0.587000													27	78					0	0	1	0	0
ZNF79	7633	broad.mit.edu	37	9	130198257	130198257	+	Silent	SNP	C	C	T	rs148235940	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:130198257C>T	ENST00000342483.5	+	4	709	c.303C>T	c.(301-303)ggC>ggT	p.G101G	ZNF79_ENST00000543471.1_Silent_p.G77G	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	101	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						TGCTGGAGGGCGAAGACCTGC	0.507000													7	111					0	0	1	0	0
PCBP4	57060	broad.mit.edu	37	3	51993254	51993254	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:51993254C>T	ENST00000461554.1	-	11	1022	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	PCBP4_ENST00000484633.1_Missense_Mutation_p.V188M|PCBP4_ENST00000395014.2_Missense_Mutation_p.V252M|PCBP4_ENST00000471622.1_Missense_Mutation_p.V231M|PCBP4_ENST00000355852.2_Missense_Mutation_p.V231M|PCBP4_ENST00000395013.3_Missense_Mutation_p.V71M|PCBP4_ENST00000428823.2_Missense_Mutation_p.V188M|PCBP4_ENST00000322099.7_Missense_Mutation_p.V231M	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	231						cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCTGGCACCACGCTGGGTGTG	0.627000													19	60					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61492927	61492927	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:61492927C>T	ENST00000424789.2	+	23	3811	c.3807C>T	c.(3805-3807)taC>taT	p.Y1269Y	TANC2_ENST00000389520.4_Silent_p.Y1279Y|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1269							binding	p.Y1279*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GCTACCAGTACGCCCTGAAGA	0.512000													11	32					0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772604	4772604	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:4772604C>T	ENST00000378191.4	+	2	1055	c.674C>T	c.(673-675)aCg>aTg	p.T225M	AJAP1_ENST00000378190.3_Missense_Mutation_p.T225M	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	225	Thr-rich.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		accaccaccacggccaccccc	0.612000													17	35					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78647236	78647236	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:78647236C>T	ENST00000286627.5	-	27	4277	c.3325G>A	c.(3325-3327)Gtg>Atg	p.V1109M	KCNMA1_ENST00000404857.1_Missense_Mutation_p.V1150M|KCNMA1_ENST00000372440.1_Missense_Mutation_p.V1109M|KCNMA1_ENST00000404771.3_Missense_Mutation_p.V1167M|KCNMA1_ENST00000406533.3_Missense_Mutation_p.V1171M|KCNMA1_ENST00000286628.8_Missense_Mutation_p.V1167M|KCNMA1_ENST00000354353.5_Missense_Mutation_p.V1170M|KCNMA1_ENST00000372443.1_Missense_Mutation_p.V1136M	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1167					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.V1109L(1)|p.V1171L(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TCCGTCGGCACGAGCTCAAAC	0.547000													24	55					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78686713	78686713	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:78686713G>A	ENST00000545128.1	+	7	1331	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	PCSK5_ENST00000376767.3_Missense_Mutation_p.V265M|PCSK5_ENST00000376752.4_Missense_Mutation_p.V265M	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	265	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCCCCAGCACGTGCACATTTA	0.542000													5	232					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25886833	25886833	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:25886833G>A	ENST00000376351.3	+	11	2637	c.2278G>A	c.(2278-2280)Gag>Aag	p.E760K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	760						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ACGCATTACGGAGATCCCAGA	0.532000													4	169					0	0	1	0	0
HMGB1P5	0	broad.mit.edu	37	3	22424048	22424048	+	RNA	SNP	G	G	T	rs11917328		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:22424048G>T	ENST00000451497.1	+	0	613																											AATGTAAGGCGGTGTAAGATT	0.333000													4	25					0.000602214	0.000612978	1	1	0
RNF212	285498	broad.mit.edu	37	4	1067393	1067393	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:1067393G>A	ENST00000382968.5	-	9	665	c.568C>T	c.(568-570)Cga>Tga	p.R190*	RNF212_ENST00000433731.2_Nonsense_Mutation_p.R190*	NM_001131034.3|NM_194439.4	NP_001124506.1|NP_919420.1	Q495C1	RN212_HUMAN	ring finger protein 212	190							zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		TTACCCATTCGTCCATCTTGA	0.413000											OREG0016028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	36					0	0	1	0	0
LPCAT4	254531	broad.mit.edu	37	15	34657848	34657848	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:34657848C>T	ENST00000314891.6	-	2	346	c.169G>A	c.(169-171)Gtc>Atc	p.V57I	LPCAT4_ENST00000562431.1_5'UTR	NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	57					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						AGAAAGAGGACGATAAAGGCC	0.552000													18	31					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14366990	14366990	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:14366990G>A	ENST00000344204.4	+	16	2800	c.2776G>A	c.(2776-2778)Gga>Aga	p.G926R	TRIO_ENST00000537187.1_Missense_Mutation_p.G926R|TRIO_ENST00000509967.2_Missense_Mutation_p.G877R	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	926					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GATCCGCAACGGAGAGTCCAT	0.537000													28	106					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17252746	17252746	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:17252746G>A	ENST00000261381.6	-	6	1394	c.1310C>T	c.(1309-1311)gCg>gTg	p.A437V		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	437					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGAGAGAAACGCCACCAACTG	0.488000													32	45					0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12977620	12977620	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:12977620G>A	ENST00000273221.4	-	3	1154	c.938C>T	c.(937-939)tCg>tTg	p.S313L		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	313					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGAGGGGGCGACAGCTCCTC	0.677000													45	93					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74003402	74003402	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:74003402C>T	ENST00000301607.3	-	22	6137	c.5884G>A	c.(5884-5886)Ggg>Agg	p.G1962R	EVPL_ENST00000586740.1_Missense_Mutation_p.G1984R	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1962	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTGATCATCCCGGAGAGGAGG	0.627000													7	84					0	0	1	0	0
TRIM60	166655	broad.mit.edu	37	4	165962457	165962457	+	Silent	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:165962457A>G	ENST00000512596.1	+	3	1449	c.1233A>G	c.(1231-1233)aaA>aaG	p.K411K	TRIM60_ENST00000341062.5_Silent_p.K411K|TRIM60_ENST00000508504.1_Silent_p.K411K	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	411	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		CAGTAGTAAAACCCAGTAAAA	0.398000													25	74					0	0	1	0	0
RCC2	55920	broad.mit.edu	37	1	17735625	17735625	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:17735625C>A	ENST00000375436.4	-	13	1717	c.1530G>T	c.(1528-1530)aaG>aaT	p.K510N	RCC2_ENST00000375433.3_Missense_Mutation_p.K510N	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	510					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		GTTTCTTGATCTTCTCTTTCT	0.547000													7	170					0.000157383	0.000160498	1	1	0
UBA1	7317	broad.mit.edu	37	X	47069466	47069466	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:47069466C>T	ENST00000335972.6	+	18	2326	c.2143C>T	c.(2143-2145)Cac>Tac	p.H715Y	UBA1_ENST00000377351.4_Missense_Mutation_p.H715Y|UBA1_ENST00000377269.3_Missense_Mutation_p.H163Y	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	715					cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCACCACTGGCACACCCAGTA	0.607000													5	40					0	0	1	0	0
CROT	54677	broad.mit.edu	37	7	87006704	87006704	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:87006704T>G	ENST00000331536.3	+	10	1101	c.916T>G	c.(916-918)Tgg>Ggg	p.W306G	CROT_ENST00000419147.2_Missense_Mutation_p.W334G|CROT_ENST00000442291.1_Missense_Mutation_p.W306G	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	306					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	AACAGTACGCTGGGGTGACAA	0.294000													8	22					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233621023	233621023	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:233621023C>T	ENST00000373566.3	+	6	555	c.358C>T	c.(358-360)Cga>Tga	p.R120*	GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.R120*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.R120*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.R120*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.R120*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.R120*			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	120	Arg-rich.				cell death		protein binding	p.R120R(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TCCTAGAGGTCGAAGTTCTTC	0.443000													9	32					0	0	1	0	0
NFYA	4800	broad.mit.edu	37	6	41062195	41062195	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:41062195C>T	ENST00000341376.6	+	9	1150	c.949C>T	c.(949-951)Cga>Tga	p.R317*	OARD1_ENST00000480585.1_Intron|NFYA_ENST00000353205.5_Nonsense_Mutation_p.R288*	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	317					transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGAAGGTGGACGATTTTTCTC	0.388000													3	49					0	0	1	0	0
SS18L1	26039	broad.mit.edu	37	20	60749651	60749651	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:60749651C>T	ENST00000331758.3	+	10	1141	c.1115C>T	c.(1114-1116)cCg>cTg	p.P372L	SS18L1_ENST00000370848.4_Missense_Mutation_p.P375L|SS18L1_ENST00000421564.1_Missense_Mutation_p.P372L	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	372	Gln-rich.|Necessary for nuclear localization (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			TACCGAGCACCGCAGACAGCG	0.637000			T	SSX1	synovial sarcoma								4	193					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32914549	32914549	+	Silent	SNP	C	C	T	rs147961615	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:32914549C>T	ENST00000544455.1	+	11	6284	c.6057C>T	c.(6055-6057)aaC>aaT	p.N2019N	BRCA2_ENST00000380152.3_Silent_p.N2019N	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2019					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTAAAAGTAACGAACATTCAG	0.338000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			4	87					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197398616	197398616	+	Missense_Mutation	SNP	G	G	A	rs114052315	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:197398616G>A	ENST00000367397.1	+	4	1715	c.857G>A	c.(856-858)cGg>cAg	p.R286Q	CRB1_ENST00000367400.3_Missense_Mutation_p.R905Q|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.R386Q|CRB1_ENST00000535699.1_Missense_Mutation_p.R881Q|CRB1_ENST00000367399.2_Missense_Mutation_p.R793Q			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	905	EGF-like 7; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGCCATTCCCGGTGGGATGAC	0.507000													43	100					0	0	1	0	0
KIAA1009	22832	broad.mit.edu	37	6	84884584	84884584	+	Silent	SNP	C	C	T	rs143508247		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:84884584C>T	ENST00000403245.3	-	15	2001	c.1887G>A	c.(1885-1887)gcG>gcA	p.A629A	KIAA1009_ENST00000257766.4_Silent_p.A553A|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	629					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	p.A629A(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTAGGGCTTGCGCACCCCTCC	0.373000													7	24					0	0	1	0	0
TINAGL1	64129	broad.mit.edu	37	1	32050601	32050601	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:32050601G>A	ENST00000271064.7	+	7	897	c.821G>A	c.(820-822)cGt>cAt	p.R274H	TINAGL1_ENST00000537531.1_3'UTR|TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000457433.2_Missense_Mutation_p.R243H	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	274					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CGCGGTGGGCGTCTCGATGGT	0.642000													33	101					0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48626217	48626217	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:48626217C>T	ENST00000263274.7	-	23	2625	c.2206G>A	c.(2206-2208)Gcc>Acc	p.A736T	LIG1_ENST00000427526.2_Missense_Mutation_p.A705T|LIG1_ENST00000536218.1_Missense_Mutation_p.A668T|CTC-453G23.5_ENST00000596839.1_RNA|CTC-453G23.5_ENST00000596563.1_RNA	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	736					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GATCTCTTGGCGATCTCGTAG	0.597000								Nucleotide excision repair (NER)					40	124					0	0	1	0	0
PPARA	5465	broad.mit.edu	37	22	46614283	46614283	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:46614283G>A	ENST00000396000.2	+	5	758	c.493G>A	c.(493-495)Ggg>Agg	p.G165R	PPARA_ENST00000402126.1_Missense_Mutation_p.G165R|PPARA_ENST00000407236.1_Missense_Mutation_p.G165R|PPARA_ENST00000262735.5_Missense_Mutation_p.G165R|PPARA_ENST00000434345.2_Missense_Mutation_p.G165R			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	165					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	CCTTTCTGTCGGGATGTCACA	0.488000													55	152					0	0	1	0	0
MRPL21	219927	broad.mit.edu	37	11	68664011	68664011	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:68664011G>A	ENST00000567045.1	-	4	348	c.113C>T	c.(112-114)gCg>gTg	p.A38V	MRPL21_ENST00000362034.2_Missense_Mutation_p.A123V|MRPL21_ENST00000450904.2_Missense_Mutation_p.A38V			Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	123					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTCTCCACACGCAAGGTCTAG	0.532000													50	156					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26689975	26689975	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:26689975G>A	ENST00000272371.2	-	35	4480	c.4354C>T	c.(4354-4356)Cgc>Tgc	p.R1452C	OTOF_ENST00000402415.3_Missense_Mutation_p.R762C|OTOF_ENST00000403946.3_Missense_Mutation_p.R1452C|OTOF_ENST00000338581.6_Missense_Mutation_p.R685C|OTOF_ENST00000339598.3_Missense_Mutation_p.R685C	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1452					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTTGAAGCGTCCCACAATG	0.642000													21	58					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19197976	19197976	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:19197976G>T	ENST00000263200.10	-	20	3181	c.3109C>A	c.(3109-3111)Cgc>Agc	p.R1037S	CLTCL1_ENST00000427926.1_Missense_Mutation_p.R1037S|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R1037S	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1037	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACCCGTGTGCGGTCTGCCTTG	0.562000			T	?	ALCL								10	43					1.08611e-07	1.11921e-07	1	1	0
RRNAD1	51093	broad.mit.edu	37	1	156702121	156702121	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:156702121G>A	ENST00000524343.1	+	2	305	c.160G>A	c.(160-162)Gtg>Atg	p.V54M	RRNAD1_ENST00000476229.1_5'UTR|RRNAD1_ENST00000368216.4_Silent_p.A95A|RRNAD1_ENST00000368218.4_Silent_p.A95A			Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	0						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						AGTCCACGGCGTGTGCCCTGG	0.592000													18	53					0	0	1	0	0
IRX6	79190	broad.mit.edu	37	16	55362955	55362955	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:55362955G>A	ENST00000290552.7	+	5	2397	c.1065G>A	c.(1063-1065)gcG>gcA	p.A355A	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	355						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						GGTCTCTGGCGCACACCGCGA	0.627000													30	30					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149474811	149474811	+	RNA	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:149474811C>T	ENST00000378016.2	+	0	610							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTTCCACTACCGCACCTTTGA	0.687000													7	25					0	0	1	0	0
CES4A	283848	broad.mit.edu	37	16	67042963	67042963	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:67042963G>A	ENST00000540947.2	+	12	1586	c.1402G>A	c.(1402-1404)Gca>Aca	p.A468T	CES4A_ENST00000541479.1_Missense_Mutation_p.G488D|CES4A_ENST00000397205.2_3'UTR|CES4A_ENST00000535696.1_Missense_Mutation_p.A374T|CES4A_ENST00000326686.5_Missense_Mutation_p.G535D|CES4A_ENST00000540579.1_Missense_Mutation_p.G437D|CES4A_ENST00000338718.4_Missense_Mutation_p.A491T|CES4A_ENST00000398354.1_Missense_Mutation_p.G465D	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN	carboxylesterase 4A	0						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						ACAAGAGTGGGCATGAAGCTC	0.483000													5	160					0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50467961	50467961	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:50467961A>G	ENST00000331340.3	+	8	1351	c.1196A>G	c.(1195-1197)gAc>gGc	p.D399G	IKZF1_ENST00000346667.4_Missense_Mutation_p.D169G|IKZF1_ENST00000357364.4_Missense_Mutation_p.D312G|IKZF1_ENST00000359197.5_Missense_Mutation_p.D357G|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000349824.4_Missense_Mutation_p.D256G|IKZF1_ENST00000438033.1_Missense_Mutation_p.D312G|IKZF1_ENST00000343574.5_Missense_Mutation_p.D312G|IKZF1_ENST00000439701.1_Missense_Mutation_p.D357G	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	399					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GACTCCACGGACACCGAGAGC	0.657000			"""D,T"""	BCL6	"""ALL, DLBCL"""								9	23					0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9528611	9528611	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:9528611C>T	ENST00000281419.3	+	22	2659	c.2319C>T	c.(2317-2319)ccC>ccT	p.P773P	ASAP2_ENST00000491413.1_3'UTR|ASAP2_ENST00000315273.4_Silent_p.P773P	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	773	Pro-rich.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GCCCACCTCCCGCCCAGCCTG	0.587000													13	41					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3686643	3686643	+	Missense_Mutation	SNP	C	C	T	rs144297916		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:3686643C>T	ENST00000344754.4	-	3	453	c.454G>A	c.(454-456)Gag>Aag	p.E152K	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.E152K	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	152	Ig-like C2-type 1.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TCTGTGCCCTCGAGAAGCTCC	0.627000													35	72					0	0	1	0	0
RGR	5995	broad.mit.edu	37	10	86007450	86007450	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:86007450G>A	ENST00000372092.3	+	2	138	c.133G>A	c.(133-135)Gga>Aga	p.G45R	RGR_ENST00000359452.4_Silent_p.A61A|RGR_ENST00000358110.5_Silent_p.A61A			P47804	RGR_HUMAN	retinal G protein coupled receptor	0					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						TGGCTCTTGCGGACAGTGGGA	0.627000													37	127					0	0	1	0	0
OPRM1	4988	broad.mit.edu	37	6	154412196	154412196	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:154412196C>T	ENST00000414028.2	+	3	803	c.753C>T	c.(751-753)acC>acT	p.T251T	OPRM1_ENST00000428397.2_Silent_p.T251T|OPRM1_ENST00000229768.5_Silent_p.T251T|OPRM1_ENST00000518759.1_Silent_p.T170T|OPRM1_ENST00000419506.2_Silent_p.T251T|OPRM1_ENST00000360422.4_Silent_p.T251T|OPRM1_ENST00000522555.1_Silent_p.T151T|OPRM1_ENST00000452687.2_Silent_p.T251T|OPRM1_ENST00000520708.1_Silent_p.T151T|OPRM1_ENST00000435918.2_Silent_p.T251T|OPRM1_ENST00000434900.2_Silent_p.T344T|OPRM1_ENST00000337049.4_Silent_p.T251T|OPRM1_ENST00000330432.7_Silent_p.T251T|OPRM1_ENST00000522236.1_Silent_p.T151T|OPRM1_ENST00000524163.1_Silent_p.T251T	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	251					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	p.T251T(2)|p.T344T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	TCATCATTACCGTGTGCTATG	0.473000													23	92					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84581902	84581902	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:84581902C>T	ENST00000286744.5	+	16	1983	c.1759C>T	c.(1759-1761)Cgt>Tgt	p.R587C	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R587C	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	587	TSP type-1 4.		R -> H (in a colorectal cancer sample; somatic mutation).			proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGTGCAGGTCCGTGAGGTGAA	0.602000													35	80					0	0	1	0	0
PDIA4	9601	broad.mit.edu	37	7	148701135	148701135	+	Silent	SNP	G	G	A	rs145077850	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:148701135G>A	ENST00000286091.4	-	10	1921	c.1689C>T	c.(1687-1689)ccC>ccT	p.P563P		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	563	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TGTTGTACACGGGCTCTAGCT	0.582000													35	98					0	0	1	0	0
PHC2	1912	broad.mit.edu	37	1	33799804	33799804	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:33799804C>T	ENST00000257118.5	-	9	1698	c.1645G>A	c.(1645-1647)Ggc>Agc	p.G549S	PHC2_ENST00000373418.3_Missense_Mutation_p.G14S|PHC2_ENST00000373416.1_Missense_Mutation_p.G14S|PHC2_ENST00000373422.3_Missense_Mutation_p.G155S|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000419414.2_Missense_Mutation_p.G550S|PHC2_ENST00000431992.1_Missense_Mutation_p.G520S	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	549					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGGGCAGTGCCGGCGATGCTG	0.582000													51	109					0	0	1	0	0
PCDHGB3	0	broad.mit.edu	37	5	140750489	140750489	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140750489G>A	ENST00000576222.1	+	1	659	c.528G>A	c.(526-528)ccG>ccA	p.P176P	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTGATCCGCACTTCTCTT	0.542000													20	308					0	0	1	0	0
ASIC4	55515	broad.mit.edu	37	2	220399917	220399917	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:220399917G>A	ENST00000358078.4	+	6	1495	c.1481G>A	c.(1480-1482)gGc>gAc	p.G494D	ASIC4_ENST00000347842.3_Missense_Mutation_p.G475D			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	475						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										GGCCCTGAGGGCCCGTGCTTC	0.642000													21	51					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60754670	60754670	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:60754670C>T	ENST00000303375.5	+	12	2277	c.1875C>T	c.(1873-1875)agC>agT	p.S625S		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	625	C-type lectin 3.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCACTGGCAGCGCCATGGGGC	0.667000													4	14					0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151671792	151671792	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:151671792G>A	ENST00000402676.2	+	4	2506	c.2266G>A	c.(2266-2268)Gtt>Att	p.V756I	AKAP12_ENST00000359755.5_Missense_Mutation_p.V651I|AKAP12_ENST00000253332.1_Missense_Mutation_p.V756I|AKAP12_ENST00000354675.6_Missense_Mutation_p.V658I	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	756	AKAP 2.				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGGGGAGGGCGTTTCCACCTG	0.537000													58	166					0	0	1	0	0
TFAP4	7023	broad.mit.edu	37	16	4312644	4312644	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:4312644G>A	ENST00000204517.6	-	2	476	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	50					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GCGATCTCCCGCCGAATCCGC	0.632000													35	98					0	0	1	0	0
CASKIN2	57513	broad.mit.edu	37	17	73498257	73498257	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:73498257G>A	ENST00000321617.3	-	18	3484	c.2898C>T	c.(2896-2898)ccC>ccT	p.P966P	CASKIN2_ENST00000433559.2_Silent_p.P884P	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	966	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGGGCCAGCGGGCTTCGGGC	0.672000													21	38					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55127503	55127503	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:55127503G>A	ENST00000257290.5	+	3	622	c.291G>A	c.(289-291)ttG>ttA	p.L97L	PDGFRA_ENST00000508170.1_Silent_p.L97L|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	97	Ig-like C2-type 1.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ACACAGGGTTGTACACTTGCT	0.502000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			5	303					0	0	1	0	0
C15orf38	348110	broad.mit.edu	37	15	90451588	90451588	+	Translation_Start_Site	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:90451588G>A	ENST00000460685.1	-	0	768				C15orf38-AP3S2_ENST00000398333.3_Silent_p.D75D|C15orf38_ENST00000357484.5_Silent_p.D75D					chromosome 15 open reading frame 38											breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			TTCCCTTGGCGTCGAATTTAC	0.582000													31	61					0	0	1	0	0
DNAJC10	54431	broad.mit.edu	37	2	183582840	183582840	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:183582840C>A	ENST00000264065.6	+	3	442	c.27C>A	c.(25-27)gaC>gaA	p.D9E	DNAJC10_ENST00000537515.1_Missense_Mutation_p.D9E|DNAJC10_ENST00000469118.1_Intron	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	9					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATAAAGATGACTATATCAGAG	0.353000													18	48					2.4624e-09	2.54714e-09	1	1	0
MYLK4	340156	broad.mit.edu	37	6	2685806	2685806	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:2685806G>A	ENST00000274643.7	-	5	688	c.346C>T	c.(346-348)Cgt>Tgt	p.R116C	MYLK4_ENST00000268446.5_Missense_Mutation_p.R116C	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	116	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TGGCCGAAACGCCCTCTGCCA	0.577000													31	72					0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72277951	72277951	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:72277951G>A	ENST00000579490.1	+	1	301	c.166G>A	c.(166-168)Ggc>Agc	p.G56S	DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000311014.6_5'UTR|DNAI2_ENST00000446837.2_5'UTR|DNAI2_ENST00000582036.1_5'UTR			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	0					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCCAGCAGCCGGCACCATGGA	0.612000									Kartagener syndrome				4	89					0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	6925751	6925751	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:6925751G>A	ENST00000409757.4	+	2	759	c.635G>A	c.(634-636)cGt>cAt	p.R212H	TBC1D14_ENST00000448507.1_Missense_Mutation_p.R212H	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	212						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						AAGGAAACCCGTGGCTTACAC	0.483000													17	30					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18504839	18504839	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:18504839G>A	ENST00000380548.4	+	2	415	c.76G>A	c.(76-78)Gca>Aca	p.A26T	ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.A26T|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.A26T|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.A26T|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.A26T|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.A26T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	26						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTCCAGGACCGCACGCTCCGA	0.577000													48	141					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43698501	43698501	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:43698501T>C	ENST00000405312.3	-	5	1471	c.1234A>G	c.(1234-1236)Aaa>Gaa	p.K412E	PSG4_ENST00000433626.2_Missense_Mutation_p.K319E|PSG4_ENST00000244295.9_Missense_Mutation_p.K319E	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	412					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CCAGAGACTTTGACTGTGATG	0.463000													82	220					0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91406185	91406185	+	Silent	SNP	C	C	T	rs148356542	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:91406185C>T	ENST00000370440.1	-	3	943	c.726G>A	c.(724-726)acG>acA	p.T242T	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Silent_p.T242T			Q9H582	ZN644_HUMAN	zinc finger protein 644	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AGGAAATTCCCGTTACTGTAT	0.368000													12	159					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37609603	37609603	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:37609603G>A	ENST00000399151.3	+	16	2751	c.2666G>A	c.(2665-2667)cGg>cAg	p.R889Q		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	889					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAAGAGACCCGGGAGCATCAC	0.592000													6	89					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14267939	14267939	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:14267939C>T	ENST00000340736.6	-	16	3076	c.2779G>A	c.(2779-2781)Gcc>Acc	p.A927T	LPHN1_ENST00000361434.3_Missense_Mutation_p.A922T|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	927					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGCAGGCCGGCGAAGATGGGG	0.642000													15	36					0	0	1	0	0
SLC29A1	2030	broad.mit.edu	37	6	44199798	44199798	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:44199798G>A	ENST00000393841.1	+	11	1419	c.928G>A	c.(928-930)Gtg>Atg	p.V310M	SLC29A1_ENST00000427851.2_Missense_Mutation_p.V310M|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371740.5_Missense_Mutation_p.V310M|SLC29A1_ENST00000393844.1_Missense_Mutation_p.V310M|SLC29A1_ENST00000371713.1_Missense_Mutation_p.V310M|SLC29A1_ENST00000371724.1_Missense_Mutation_p.V310M|SLC29A1_ENST00000313248.7_Missense_Mutation_p.V389M|SLC29A1_ENST00000371755.3_Missense_Mutation_p.V310M|SLC29A1_ENST00000371708.1_Missense_Mutation_p.V310M|SLC29A1_ENST00000371731.1_Missense_Mutation_p.V310M	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	310					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	GTTTCCAGCCGTGACTGTTGA	0.527000													15	31					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120156517	120156517	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:120156517G>A	ENST00000392521.2	-	31	4045	c.3990C>T	c.(3988-3990)tcC>tcT	p.S1330S	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.S1288S	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1288					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCTCCCGGGCGGACCGGAGCT	0.552000													5	149					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100357394	100357394	+	RNA	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:100357394G>A	ENST00000542585.1	+	0	3770				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACAGGAAGGCGTGTCCTGCCT	0.582000													6	10					0	0	1	0	0
TRBV4-2	0	broad.mit.edu	37	7	142045655	142045655	+	RNA	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:142045655A>G	ENST00000390392.3	+	0	294																											CTAAGAAGCCACTGGAGCTCA	0.433000													32	206					0	0	1	0	0
KLHL10	317719	broad.mit.edu	37	17	40004485	40004485	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:40004485C>T	ENST00000293303.4	+	5	1906	c.1753C>T	c.(1753-1755)Cgg>Tgg	p.R585W		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	585						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TGCAGCTAGACGGGACAACTT	0.453000													4	145					0	0	1	0	0
TMCC2	9911	broad.mit.edu	37	1	205210851	205210851	+	Silent	SNP	C	C	T	rs140397839		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:205210851C>T	ENST00000358024.3	+	2	815	c.426C>T	c.(424-426)ccC>ccT	p.P142P	TMCC2_ENST00000545499.1_Silent_p.P64P|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	142						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACGACCTGCCCGCCCGGCCCA	0.682000													9	34					0	0	1	0	0
CAP2	10486	broad.mit.edu	37	6	17507412	17507412	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:17507412G>A	ENST00000229922.2	+	5	845	c.313G>A	c.(313-315)Gca>Aca	p.A105T	CAP2_ENST00000465994.1_Missense_Mutation_p.A105T|CAP2_ENST00000378990.2_Missense_Mutation_p.A79T|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000489374.1_Intron	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	105					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	p.A105T(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TGACGTGGCCGCACTTCTGAA	0.473000													19	54					0	0	1	0	0
GALK1	2584	broad.mit.edu	37	17	73759207	73759207	+	Missense_Mutation	SNP	C	C	T	rs139858654	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:73759207C>T	ENST00000588479.1	-	4	1073	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	GALK1_ENST00000437911.1_Missense_Mutation_p.A197T|GALK1_ENST00000225614.2_Missense_Mutation_p.A167T			P51570	GALK1_HUMAN	galactokinase 1	167					galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACACCTGGGCGCGGGCAGCT	0.612000													26	75					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64434790	64434790	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:64434790C>T	ENST00000265459.6	-	9	2191	c.1730G>A	c.(1729-1731)cGg>cAg	p.R577Q	NRXN2_ENST00000377559.3_Missense_Mutation_p.R546Q|NRXN2_ENST00000377551.1_Missense_Mutation_p.R577Q|NRXN2_ENST00000409571.1_Missense_Mutation_p.R570Q	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	577	Laminin G-like 3.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GCTGGATGCCCGCAGCTTGAT	0.597000													7	140					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144993838	144993838	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:144993838G>A	ENST00000322810.4	-	32	10731	c.10562C>T	c.(10561-10563)aCg>aTg	p.T3521M	PLEC_ENST00000527096.1_Missense_Mutation_p.T3407M|PLEC_ENST00000354958.2_Missense_Mutation_p.T3362M|PLEC_ENST00000357649.2_Missense_Mutation_p.T3388M|PLEC_ENST00000354589.3_Missense_Mutation_p.T3384M|PLEC_ENST00000345136.3_Missense_Mutation_p.T3384M|PLEC_ENST00000398774.2_Missense_Mutation_p.T3352M|PLEC_ENST00000436759.2_Missense_Mutation_p.T3411M|PLEC_ENST00000356346.3_Missense_Mutation_p.T3370M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3521	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GAGCGCAGCCGTTGTGGCTCT	0.687000													13	35					0	0	1	0	0
KRT81	3887	broad.mit.edu	37	12	52681014	52681014	+	Silent	SNP	G	G	A	rs140192619		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:52681014G>A	ENST00000327741.5	-	7	1187	c.1119C>T	c.(1117-1119)ggC>ggT	p.G373G	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	373	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTGCAGGGCGCCCTCCAGCT	0.642000													21	87					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14647099	14647099	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:14647099G>A	ENST00000403951.2	-	17	1815	c.1396C>T	c.(1396-1398)Cgt>Tgt	p.R466C	DGKB_ENST00000406247.3_Missense_Mutation_p.R466C|DGKB_ENST00000402815.1_Missense_Mutation_p.R465C|DGKB_ENST00000258767.5_Missense_Mutation_p.R466C|DGKB_ENST00000444700.2_Missense_Mutation_p.R447C|DGKB_ENST00000399322.3_Missense_Mutation_p.R466C|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Missense_Mutation_p.R458C			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	466	DAGKc.				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|protein binding	p.R466G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TAAACCTGACGAGGATTTAAT	0.279000													13	24					0	0	1	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													4	134					0	0	1	0	0
C12orf77	196415	broad.mit.edu	37	12	25149160	25149160	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:25149160C>T	ENST00000549828.1	-	2	321	c.117G>A	c.(115-117)ctG>ctA	p.L39L	C12orf77_ENST00000434912.3_5'UTR|C12orf77_ENST00000549262.1_5'UTR	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	39										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						TATAATTTGTCAGACGGGCAA	0.423000													4	106					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641823	99641823	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:99641823C>T	ENST00000345514.2	-	3	1403	c.1137G>A	c.(1135-1137)acG>acA	p.T379T	BCL11B_ENST00000357195.3_Silent_p.T450T|BCL11B_ENST00000443726.2_Silent_p.T256T	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	450						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCTTCTCGCCCGTGTGACTGC	0.647000			T	TLX3	T-ALL								13	30					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19488820	19488820	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:19488820G>A	ENST00000396229.2	+	13	2898	c.2149G>A	c.(2149-2151)Gtg>Atg	p.V717M	TMC5_ENST00000541464.1_Missense_Mutation_p.V665M|TMC5_ENST00000564959.1_Missense_Mutation_p.V400M|TMC5_ENST00000219821.5_Missense_Mutation_p.V471M|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000561503.1_Missense_Mutation_p.V358M|TMC5_ENST00000542583.2_Missense_Mutation_p.V717M|TMC5_ENST00000381414.4_Missense_Mutation_p.V717M	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	717						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCTCAACACCGTGGCCCTGTC	0.413000													31	64					0	0	1	0	0
HIST2H2BE	8349	broad.mit.edu	37	1	149857821	149857821	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:149857821T>C	ENST00000369155.2	-	1	411	c.370A>G	c.(370-372)Agc>Ggc	p.S124G		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	124					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CACTTGGAGCTGGTGTACTTG	0.657000													19	71					0	0	1	0	0
CAND2	23066	broad.mit.edu	37	3	12856694	12856694	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:12856694C>T	ENST00000456430.2	+	8	1102	c.1061C>T	c.(1060-1062)gCa>gTa	p.A354V	CAND2_ENST00000295989.5_Missense_Mutation_p.A261V	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	354					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GTGCGCCGGGCAGCTGCCAAG	0.597000													19	49					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90149114	90149114	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:90149114C>T	ENST00000405460.2	+	80	17314	c.17218C>T	c.(17218-17220)Ctt>Ttt	p.L5740F	GPR98_ENST00000425867.2_Missense_Mutation_p.L1401F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5740					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAAAACCATCCTTGATAGTTG	0.353000													4	108					0	0	1	0	0
CKMT2	1160	broad.mit.edu	37	5	80548556	80548556	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:80548556C>T	ENST00000424301.2	+	4	433	c.195C>T	c.(193-195)gcC>gcT	p.A65A	CTC-281B15.1_ENST00000500148.2_RNA|CKMT2_ENST00000254035.4_Silent_p.A65A|CKMT2_ENST00000437669.1_Silent_p.A65A|CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000502041.2_RNA|CTC-281B15.1_ENST00000503483.2_RNA|CTC-281B15.1_ENST00000501927.2_RNA|CTC-281B15.1_ENST00000505295.1_RNA|CTC-281B15.1_ENST00000512287.1_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	65	Phosphagen kinase N-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	ACTGCATGGCCGAGTGCCTCA	0.622000													21	62					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028757	37028757	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:37028757C>T	ENST00000358047.3	+	1	2326	c.2274C>T	c.(2272-2274)cgC>cgT	p.R758R		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	758								p.R758R(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TTGAGACTCGCGTATCTCATC	0.632000													12	62					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23884341	23884341	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:23884341C>T	ENST00000355349.3	-	37	5584	c.5422G>A	c.(5422-5424)Ggc>Agc	p.G1808S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1808					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)		TGCTTCTTGCCGCCCTTGAGG	0.622000													44	110					0	0	1	0	0
WNT2B	7482	broad.mit.edu	37	1	113057604	113057604	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:113057604C>T	ENST00000369684.4	+	2	776	c.291C>T	c.(289-291)ggC>ggT	p.G97G	WNT2B_ENST00000369686.4_Silent_p.G78G|WNT2B_ENST00000478360.1_3'UTR|WNT2B_ENST00000256640.5_Silent_p.G5G	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	97					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTCAGTGGGCGAGGGTGCCC	0.622000													20	61					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62385086	62385086	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:62385086C>T	ENST00000383710.4	-	30	4406	c.4057G>A	c.(4057-4059)Gat>Aat	p.D1353N	CADPS_ENST00000283269.9_Missense_Mutation_p.D1314N|CADPS_ENST00000357948.3_Missense_Mutation_p.D1274N	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1353	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ATGGTCTAATCGTCTTCTTCG	0.488000													30	74					0	0	1	0	0
DKKL1	27120	broad.mit.edu	37	19	49878142	49878142	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:49878142C>T	ENST00000221498.2	+	5	991	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C	DKKL1_ENST00000594268.1_Missense_Mutation_p.R54C|AC010524.2_ENST00000599433.1_RNA	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	196					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		GAAGCGACACCGCCTGCAGGC	0.662000													13	37					0	0	1	0	0
RP11-193H5.1	0	broad.mit.edu	37	1	238090718	238090718	+	RNA	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:238090718G>A	ENST00000450451.1	+	0	2224					NR_027247.2																						GATCCTCACCGAGCGTGGCTA	0.612000													10	24					0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44100941	44100941	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:44100941C>T	ENST00000272286.2	+	9	1317	c.1227C>T	c.(1225-1227)aaC>aaT	p.N409N		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	409					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGATTTCCAACGACTTCCGAG	0.542000													54	98					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13356944	13356944	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:13356944T>C	ENST00000276297.4	-	2	1046	c.637A>G	c.(637-639)Act>Gct	p.T213A	DLC1_ENST00000511869.1_Missense_Mutation_p.T213A|DLC1_ENST00000316609.5_Missense_Mutation_p.T213A	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	213					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						ACGTTCAAAGTATCCACTGCA	0.383000													5	229					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28272875	28272875	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:28272875G>A	ENST00000305242.5	-	6	808	c.716C>T	c.(715-717)cCg>cTg	p.P239L	ARMC4_ENST00000239715.3_Missense_Mutation_p.P96L	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	239							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTGTCTCCACGGTGGGGCTCG	0.408000													6	41					0	0	1	0	0
ARRDC5	645432	broad.mit.edu	37	19	4902802	4902802	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:4902802G>A	ENST00000381781.2	-	1	77	c.78C>T	c.(76-78)ccC>ccT	p.P26P		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	26					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TTCTATCCTCGGGCAGCACTA	0.552000													5	110					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141356218	141356218	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:141356218G>A	ENST00000389484.3	-	43	8147	c.7176C>T	c.(7174-7176)taC>taT	p.Y2392Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2392					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGGATCCATCGTATTCACACC	0.353000										TSP Lung(27;0.18)			4	26					0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40719433	40719433	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:40719433C>T	ENST00000253055.3	+	9	2135	c.1847C>T	c.(1846-1848)gCg>gTg	p.A616V		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	616					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GAGGAGTTCGCGGAGGCAGAG	0.711000													10	23					0	0	1	0	0
ASB13	79754	broad.mit.edu	37	10	5691016	5691016	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:5691016G>A	ENST00000357700.6	-	4	460	c.434C>T	c.(433-435)gCg>gTg	p.A145V	ASB13_ENST00000479033.1_5'UTR	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	145					intracellular signal transduction		protein binding			NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		GCAATCGTGCGCTTCCAGATT	0.537000													44	105					0	0	1	0	0
KCNN4	3783	broad.mit.edu	37	19	44278577	44278577	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:44278577C>T	ENST00000262888.3	-	3	845	c.450G>A	c.(448-450)gcG>gcA	p.A150A		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	150					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	GGGACAGCAGCGCTTCCCCTT	0.731000											OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	9					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23080212	23080212	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:23080212G>A	ENST00000219689.7	-	16	3213	c.3214C>T	c.(3214-3216)Cgc>Tgc	p.R1072C	USP31_ENST00000567975.1_Missense_Mutation_p.R365C	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1072	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CTGCGGGAGCGGGAGGGCTTT	0.557000													30	90					0	0	1	0	0
AEBP2	121536	broad.mit.edu	37	12	19653128	19653128	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:19653128G>T	ENST00000266508.9	+	5	1273	c.1272G>T	c.(1270-1272)aaG>aaT	p.K424N	AEBP2_ENST00000541908.1_Missense_Mutation_p.K195N|AEBP2_ENST00000360995.4_Missense_Mutation_p.K208N|AEBP2_ENST00000398864.3_Missense_Mutation_p.K424N	NM_153207.4	NP_694939.2	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	424	Interaction with SUZ12.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					GTTTAGGGAAGGGACACAGTG	0.328000													3	5					0.004672	0.00472882	1	1	0
ITGB6	3694	broad.mit.edu	37	2	160994350	160994350	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:160994350C>T	ENST00000283249.2	-	10	1492	c.1255G>A	c.(1255-1257)Gtg>Atg	p.V419M	ITGB6_ENST00000409872.1_Missense_Mutation_p.V419M|ITGB6_ENST00000409967.2_Missense_Mutation_p.V419M|ITGB6_ENST00000428609.2_Missense_Mutation_p.V377M			P18564	ITB6_HUMAN	integrin, beta 6	419					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TTCACAGTCACGCTGAAGGAA	0.478000													17	43					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145001706	145001706	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:145001706G>A	ENST00000322810.4	-	27	4208	c.4039C>T	c.(4039-4041)Cgt>Tgt	p.R1347C	PLEC_ENST00000527096.1_Missense_Mutation_p.R1233C|PLEC_ENST00000354958.2_Missense_Mutation_p.R1188C|PLEC_ENST00000357649.2_Missense_Mutation_p.R1214C|PLEC_ENST00000354589.3_Missense_Mutation_p.R1210C|PLEC_ENST00000345136.3_Missense_Mutation_p.R1210C|PLEC_ENST00000398774.2_Missense_Mutation_p.R1178C|PLEC_ENST00000436759.2_Missense_Mutation_p.R1237C|PLEC_ENST00000356346.3_Missense_Mutation_p.R1196C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1347	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGTAGTAACGCAGCTGGCGG	0.721000													8	25					0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45448007	45448007	+	Silent	SNP	G	G	A	rs148179597		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:45448007G>A	ENST00000321429.4	+	29	3989	c.3582G>A	c.(3580-3582)acG>acA	p.T1194T	DUOX1_ENST00000389037.3_Silent_p.T1194T|DUOX1_ENST00000561166.1_Silent_p.T840T|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1194	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CAGGCCTCACGGGGGTTGTGC	0.577000													4	144					0	0	1	0	0
SDSL	113675	broad.mit.edu	37	12	113875851	113875851	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:113875851G>A	ENST00000403593.4	+	8	1219	c.957G>A	c.(955-957)ctG>ctA	p.L319L	SDSL_ENST00000345635.4_Silent_p.L319L			Q96GA7	SDSL_HUMAN	serine dehydratase-like	319					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	GCCGAGAGCTGCAGGCTTTGA	0.622000													5	233					0	0	1	0	0
ALKBH5	54890	broad.mit.edu	37	17	18088302	18088302	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:18088302C>T	ENST00000399138.4	+	1	750	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C	ALKBH5_ENST00000541285.1_Intron	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	alkB, alkylation repair homolog 5 (E. coli)	249						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					CCTGCCGGTGCGCAGGGGAAG	0.637000													48	118					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195516082	195516082	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:195516082G>A	ENST00000463781.3	-	2	2828	c.2369C>T	c.(2368-2370)cCg>cTg	p.P790L	MUC4_ENST00000475231.1_Missense_Mutation_p.P790L|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	795					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGAGGCCGGTTCGCTGGT	0.612000													28	90					0	0	1	0	0
EGR1	1958	broad.mit.edu	37	5	137802682	137802682	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:137802682G>A	ENST00000239938.4	+	2	816	c.544G>A	c.(544-546)Gcc>Acc	p.A182T		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	182					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A182T(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGCCTCCTCCGCCTCCGCCTC	0.652000													37	236					0	0	1	0	0
BYSL	705	broad.mit.edu	37	6	41900303	41900303	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:41900303C>T	ENST00000230340.4	+	7	1548	c.1173C>T	c.(1171-1173)gcC>gcT	p.A391A		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	391					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCTACAAGGCCGACTTGGCCA	0.592000													44	106					0	0	1	0	0
RNF13	11342	broad.mit.edu	37	3	149678734	149678734	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:149678734G>A	ENST00000344229.3	+	11	1691	c.989G>A	c.(988-990)cGc>cAc	p.R330H	RNF13_ENST00000392894.3_Missense_Mutation_p.R330H|RNF13_ENST00000361785.6_Missense_Mutation_p.R211H	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	330					protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TCGGAATCCCGCTCACATCAG	0.413000													21	48					0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159170689	159170689	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:159170689G>A	ENST00000368125.4	+	9	1331	c.1174G>A	c.(1174-1176)Gac>Aac	p.D392N	CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Missense_Mutation_p.D426N|CADM3_ENST00000497636.1_3'UTR	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	392					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AGGAGGGGACGACAAGAAGGA	0.612000													18	79					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102482350	102482350	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:102482350G>A	ENST00000360184.4	+	36	7564	c.7400G>A	c.(7399-7401)cGc>cAc	p.R2467H		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2467					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						CAGGCCTGCCGCAACGTGGCG	0.617000													7	18					0	0	1	0	0
CEACAM16	388551	broad.mit.edu	37	19	45211237	45211237	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:45211237G>A	ENST00000587331.1	+	6	1260	c.1045G>A	c.(1045-1047)Gcc>Acc	p.A349T	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Missense_Mutation_p.A349T	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	349										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				GCTGGTCTACGCCTGGTACCG	0.682000													6	13					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215848693	215848693	+	Missense_Mutation	SNP	C	C	T	rs147304271		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:215848693C>T	ENST00000366943.2	-	63	12946	c.12560G>A	c.(12559-12561)cGc>cAc	p.R4187H	USH2A_ENST00000307340.3_Missense_Mutation_p.R4187H			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4187	Fibronectin type-III 27.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACTTCATAGCGAATTATTTT	0.468000										HNSCC(13;0.011)			4	112					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122078450	122078450	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:122078450G>A	ENST00000334010.7	-	16	2845	c.2424C>T	c.(2422-2424)ctC>ctT	p.L808L	CADPS2_ENST00000449022.2_Silent_p.L807L|CADPS2_ENST00000412584.2_Silent_p.L804L|CADPS2_ENST00000313070.7_Silent_p.L804L|RP5-1101C3.1_ENST00000592542.1_RNA	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	807	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CAGCTTTCTCGAGACATTTTC	0.453000													13	25					0	0	1	0	0
MAP3K7	6885	broad.mit.edu	37	6	91261842	91261842	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:91261842G>A	ENST00000369329.3	-	8	954	c.793C>T	c.(793-795)Cgt>Tgt	p.R265C	MAP3K7_ENST00000369320.1_5'UTR|MAP3K7_ENST00000369332.3_Missense_Mutation_p.R265C|MAP3K7_ENST00000369325.3_Missense_Mutation_p.R265C|MAP3K7_ENST00000369327.3_Missense_Mutation_p.R265C	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	265	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GACCAACAACGAGTCATCAGG	0.428000													19	53					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184099097	184099097	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:184099097G>A	ENST00000204604.1	+	3	573	c.327G>A	c.(325-327)ccG>ccA	p.P109P	CHRD_ENST00000450923.1_Silent_p.P109P|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Silent_p.P109P|CHRD_ENST00000482805.1_3'UTR	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	109	VWFC 1.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCCAACCCCGGCCTGTGGGC	0.687000													3	23					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124416490	124416490	+	Silent	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:124416490C>A	ENST00000409039.3	+	75	12802	c.12777C>A	c.(12775-12777)gcC>gcA	p.A4259A	DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron|DNAH10_ENST00000538983.1_3'UTR	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4259					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTAAATAGGCCTTGGCTGGAG	0.483000													6	81					0.217242	0.217443	1	1	0
TNFSF8	944	broad.mit.edu	37	9	117666341	117666341	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:117666341T>C	ENST00000223795.2	-	4	688	c.575A>G	c.(574-576)cAa>cGa	p.Q192R	TNFSF8_ENST00000474301.1_Intron	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	192					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						CAGCAAGAATTGAGAGAGATT	0.428000													33	101					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6181216	6181216	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:6181216G>A	ENST00000262450.3	-	33	4960	c.4861C>T	c.(4861-4863)Cgg>Tgg	p.R1621W	CHD5_ENST00000378021.1_Missense_Mutation_p.R478W	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1621					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCCTCTGGCCGCTCCTCTCGG	0.662000													8	27					0	0	1	0	0
SYCP3	50511	broad.mit.edu	37	12	102125434	102125434	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:102125434C>T	ENST00000392927.3	-	7	595	c.464G>A	c.(463-465)cGa>cAa	p.R155Q	SYCP3_ENST00000266743.2_Missense_Mutation_p.R155Q|SYCP3_ENST00000392924.1_Missense_Mutation_p.R155Q	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	155	Gln-rich.				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TTGTTGCTGTCGAAACATATT	0.249000													3	18					0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31369195	31369195	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:31369195T>C	ENST00000328111.2	+	3	500	c.179T>C	c.(178-180)gTg>gCg	p.V60A	DNMT3B_ENST00000344505.4_Missense_Mutation_p.V60A|DNMT3B_ENST00000353855.2_Missense_Mutation_p.V60A|DNMT3B_ENST00000443239.3_Missense_Mutation_p.V60A|DNMT3B_ENST00000456297.2_Missense_Mutation_p.V60A|DNMT3B_ENST00000201963.3_Missense_Mutation_p.V72A|DNMT3B_ENST00000375623.4_Missense_Mutation_p.V60A|DNMT3B_ENST00000348286.2_Missense_Mutation_p.V60A	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	60	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAGAGGGAGGTGTCCAGTCTG	0.567000													4	58					0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390555	61390555	+	RNA	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:61390555G>A	ENST00000544088.1	+	0	1163				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	p.A367A(1)		breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				AGTTCAAGGCGAACCACCCCT	0.522000													27	80					0	0	1	0	0
FSD1	79187	broad.mit.edu	37	19	4310270	4310270	+	Splice_Site	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:4310270G>A	ENST00000221856.6	+	5	493	c.345_splice	c.e5-1	p.A116_splice	FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Splice_Site_p.A116_splice	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	116	COS.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTCTCTAGGCTGCCAAGCA	0.527000													25	293					0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119900063	119900063	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:119900063A>G	ENST00000464295.1	-	8	1287	c.842T>C	c.(841-843)tTg>tCg	p.L281S	GPR156_ENST00000461057.1_Missense_Mutation_p.L277S|GPR156_ENST00000315843.3_Missense_Mutation_p.L281S			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	281						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CCAGGAATGCAAGTATCTGGT	0.488000													9	107					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	989079	989079	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:989079A>G	ENST00000315939.6	+	11	3357	c.2714A>G	c.(2713-2715)cAg>cGg	p.Q905R	WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Missense_Mutation_p.Q498R|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.Q1403R	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	905					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCTGTGACTCAGCTGCCAAGT	0.542000													5	100					0	0	1	0	0
SHH	6469	broad.mit.edu	37	7	155595716	155595716	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:155595716C>T	ENST00000297261.2	-	3	1417	c.1267G>A	c.(1267-1269)Gct>Act	p.A423T		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	423					androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCACCCGGAGCGTCGGCAGCA	0.756000													8	19					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56721408	56721408	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:56721408A>G	ENST00000425394.2	-	6	1035	c.659T>C	c.(658-660)cTg>cCg	p.L220P	PAN2_ENST00000440411.3_Missense_Mutation_p.L220P|PAN2_ENST00000257931.5_Missense_Mutation_p.L220P|PAN2_ENST00000548043.1_Missense_Mutation_p.L220P	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	220					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GAGGTCTCTCAGGGAAACCTA	0.453000													21	59					0	0	1	0	0
C16orf87	388272	broad.mit.edu	37	16	46836915	46836915	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:46836915G>A	ENST00000394806.2	-	3	243	c.231C>T	c.(229-231)gtC>gtT	p.V77V	C16orf87_ENST00000564250.1_5'UTR|C16orf87_ENST00000285697.4_Silent_p.V138V			Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	138										large_intestine(4)|urinary_tract(1)	5						CTGCCAAGGCGACTGAAAACA	0.328000													8	32					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27101370	27101370	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:27101370G>A	ENST00000324856.7	+	18	5023	c.4652G>A	c.(4651-4653)cGc>cAc	p.R1551H	ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.R1168H	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1551					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CATGGCACACGCCAGCCCCCA	0.612000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								20	61					0	0	1	0	0
MRPS18B	28973	broad.mit.edu	37	6	30593450	30593450	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:30593450G>A	ENST00000259873.4	+	7	810	c.653G>A	c.(652-654)cGg>cAg	p.R218Q	MRPS18B_ENST00000472229.1_3'UTR|MRPS18B_ENST00000506373.2_3'UTR	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B	218					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						CGCCTTCGCCGGCTTTACCAG	0.612000													6	178					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61510982	61510982	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:61510982G>A	ENST00000266070.4	-	16	6651	c.6326C>T	c.(6325-6327)gCg>gTg	p.A2109V	DIDO1_ENST00000395343.1_Missense_Mutation_p.A2109V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2109	Arg-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTCCTCGGACGCCCGGCCCTG	0.677000													89	225					0	0	1	0	0
NOD1	10392	broad.mit.edu	37	7	30491788	30491788	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:30491788G>A	ENST00000222823.4	-	6	1770	c.1245C>T	c.(1243-1245)ccC>ccT	p.P415P	NOD1_ENST00000423334.2_3'UTR	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	415	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TCGTGCAGTCGGGCAGCTGTG	0.602000													8	110					0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12767772	12767772	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:12767772C>T	ENST00000456935.2	-	12	1558	c.1518G>A	c.(1516-1518)acG>acA	p.T506T	MAN2B1_ENST00000495617.1_5'UTR|MAN2B1_ENST00000221363.4_Silent_p.T505T	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	506					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGCGCGCCGCCGTCTGGCTGA	0.562000													8	16					0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151503052	151503052	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:151503052C>T	ENST00000271636.7	+	13	2534	c.2401C>T	c.(2401-2403)Cgc>Tgc	p.R801C		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	795	Glu-rich.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACTGGAGGCACGCCTAGAGGA	0.687000													4	39					0	0	1	0	0
GPC1	2817	broad.mit.edu	37	2	241401916	241401916	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:241401916C>T	ENST00000264039.2	+	3	882	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	212					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		GCTGCGCCTGCGGGCCACCCG	0.711000													12	26					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183511408	183511408	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:183511408A>G	ENST00000367537.3	+	15	1895	c.1700A>G	c.(1699-1701)gAc>gGc	p.D567G	SMG7_ENST00000507469.1_Missense_Mutation_p.D538G|SMG7_ENST00000508461.1_Missense_Mutation_p.D496G|SMG7_ENST00000456731.2_Missense_Mutation_p.D496G|SMG7_ENST00000515829.2_Missense_Mutation_p.D538G|SMG7_ENST00000347615.2_Missense_Mutation_p.D538G			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	538					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AACAACTGTGACACAGGAGAG	0.453000													56	122					0	0	1	0	0
TNFSF11	0	broad.mit.edu	37	13	43180811	43180811	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:43180811A>T	ENST00000398795.2	+	5	860	c.492A>T	c.(490-492)caA>caT	p.Q164H	TNFSF11_ENST00000544862.1_Missense_Mutation_p.Q164H|TNFSF11_ENST00000358545.2_Missense_Mutation_p.Q164H|TNFSF11_ENST00000239849.6_Missense_Mutation_p.Q237H|TNFSF11_ENST00000405262.2_Missense_Mutation_p.Q164H	NM_003701.3	NP_003692.1	O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	237					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		AGTATCTTCAACTAATGGTGT	0.398000													43	95					0	0	1	0	0
C14orf180	400258	broad.mit.edu	37	14	105054176	105054176	+	Missense_Mutation	SNP	C	C	T	rs139748841	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:105054176C>T	ENST00000557649.1	+	3	538	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C	C14orf180_ENST00000410013.1_Missense_Mutation_p.R68C|C14orf180_ENST00000331952.2_Missense_Mutation_p.R68C			Q8N912	CN180_HUMAN	chromosome 14 open reading frame 180	68						integral to membrane							Melanoma(154;0.226)	all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.127)		GACCTCGAGGCGCGTGTGGTT	0.682000													4	13					0	0	1	0	0
EMC10	284361	broad.mit.edu	37	19	50984001	50984001	+	Missense_Mutation	SNP	C	C	T	rs143536282		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:50984001C>T	ENST00000376918.3	+	5	612	c.566C>T	c.(565-567)cCg>cTg	p.P189L	CTD-2545M3.2_ENST00000598194.1_RNA|EMC10_ENST00000334976.6_Missense_Mutation_p.P189L|EMC10_ENST00000598585.1_Missense_Mutation_p.P189L	NM_175063.4	NP_778233.4			ER membrane protein complex subunit 10																		CAGCTGCAGCCGCCCACCACA	0.716000													3	13					0	0	1	0	0
IFNL2	282616	broad.mit.edu	37	19	39759380	39759380	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:39759380C>T	ENST00000331982.5	+	2	129	c.74C>T	c.(73-75)gCa>gTa	p.A25V		NM_172138.1	NP_742150.1			interferon, lambda 2																		GTGACTGGAGCAGTTCCTGTC	0.617000													5	45					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124824936	124824936	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:124824936G>A	ENST00000356219.3	-	37	5568	c.5413C>T	c.(5413-5415)Cga>Tga	p.R1805*	NCOR2_ENST00000405201.1_Nonsense_Mutation_p.R1798*|NCOR2_ENST00000397355.1_Nonsense_Mutation_p.R1789*|NCOR2_ENST00000429285.2_Nonsense_Mutation_p.R1788*|NCOR2_ENST00000404621.1_Nonsense_Mutation_p.R1788*|NCOR2_ENST00000404121.2_Nonsense_Mutation_p.R1359*	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1806					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCCCGGTCTCGCTCCCGCTCG	0.622000													16	44					0	0	1	0	0
CCDC112	153733	broad.mit.edu	37	5	114610974	114610974	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:114610974T>C	ENST00000379611.5	-	6	1144	c.857A>G	c.(856-858)gAa>gGa	p.E286G	CCDC112_ENST00000506442.1_Missense_Mutation_p.E203G|CCDC112_ENST00000395557.4_Missense_Mutation_p.E203G|CCDC112_ENST00000512261.1_Missense_Mutation_p.E203G	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	203										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		CTGTTGAACTTCATCTTGTGT	0.323000													9	58					0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2408385	2408385	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:2408385G>A	ENST00000332578.3	+	7	772	c.772G>A	c.(772-774)Gtg>Atg	p.V258M		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	258	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGGCCTACGTGGGTGCGAC	0.667000													23	78					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31473606	31473606	+	Silent	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:31473606G>T	ENST00000457010.2	+	3	1439	c.738G>T	c.(736-738)ctG>ctT	p.L246L	ARMC5_ENST00000563544.1_Silent_p.L246L|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000538189.1_Silent_p.L278L|ARMC5_ENST00000408912.3_Silent_p.L341L|ARMC5_ENST00000268314.4_Silent_p.L246L	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	246							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCGAGCTCCTGGCCACTGCCC	0.672000													17	34					1.15088e-07	1.18482e-07	1	1	0
SLC45A4	57210	broad.mit.edu	37	8	142222365	142222365	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:142222365G>A	ENST00000519067.1	-	7	2382	c.2079C>T	c.(2077-2079)agC>agT	p.S693S	SLC45A4_ENST00000433583.2_Silent_p.S686S|SLC45A4_ENST00000517878.1_Silent_p.S744S|SLC45A4_ENST00000024061.3_Silent_p.S693S			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	744					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGGGCTTTTCGCTGTTCCCAC	0.622000													10	22					0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711423	155711423	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:155711423G>A	ENST00000295101.2	+	3	1581	c.1104G>A	c.(1102-1104)tcG>tcA	p.S368S	KCNJ3_ENST00000544049.1_3'UTR|KCNJ3_ENST00000493505.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	368					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TTCTCATGTCGTCCCCTTTAA	0.408000													40	111					0	0	1	0	0
ABTB1	80325	broad.mit.edu	37	3	127399182	127399182	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:127399182C>T	ENST00000468137.1	+	11	1491	c.875C>T	c.(874-876)aCg>aTg	p.T292M	ABTB1_ENST00000393363.3_Missense_Mutation_p.T292M|ABTB1_ENST00000232744.8_Missense_Mutation_p.T434M|ABTB1_ENST00000453791.2_Missense_Mutation_p.T292M			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	434	BTB 2.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CGGCAGGAGACGGACTCTATC	0.672000													3	24					0	0	1	0	0
EBAG9	9166	broad.mit.edu	37	8	110576705	110576705	+	Missense_Mutation	SNP	G	G	A	rs144824501	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:110576705G>A	ENST00000337573.5	+	7	859	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	EBAG9_ENST00000395785.2_Missense_Mutation_p.E187K|EBAG9_ENST00000531677.1_Missense_Mutation_p.E232K	NM_004215.3	NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	187					apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity	p.E187K(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			GAGAGCAGCCGAACAACAAAG	0.333000													28	72					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8678365	8678365	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:8678365C>T	ENST00000378641.3	+	11	1577	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W	PLCB1_ENST00000338037.6_Missense_Mutation_p.R368W|PLCB1_ENST00000378637.2_Missense_Mutation_p.R368W	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	368	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTGGAAGGGACGGACTGCAGA	0.488000													46	98					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58108882	58108882	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:58108882C>T	ENST00000357272.4	+	21	3354	c.3189C>T	c.(3187-3189)atC>atT	p.I1063I	FLNB_ENST00000419752.2_Silent_p.I894I|FLNB_ENST00000358537.3_Silent_p.I1063I|FLNB_ENST00000295956.4_Silent_p.I1063I|FLNB_ENST00000493452.1_Silent_p.I894I|FLNB_ENST00000490882.1_Silent_p.I1063I|FLNB_ENST00000429972.2_Silent_p.I1063I|FLNB_ENST00000348383.5_Silent_p.I1063I			O75369	FLNB_HUMAN	filamin B, beta	1063					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGTTCACCATCGATACCAAAG	0.567000													45	133					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380399	147380399	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:147380399G>A	ENST00000240986.4	+	2	370	c.317G>A	c.(316-318)cGc>cAc	p.R106H	GJA8_ENST00000369235.1_Missense_Mutation_p.R106H	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	106					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GAGGAGAAGCGCAAAAGCCGC	0.652000													33	70					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20232315	20232315	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:20232315G>A	ENST00000245957.5	+	20	2312	c.2236G>A	c.(2236-2238)Ggc>Agc	p.G746S	C20orf26_ENST00000389656.3_Missense_Mutation_p.G102S|C20orf26_ENST00000377293.1_Missense_Mutation_p.G102S|C20orf26_ENST00000377309.2_Missense_Mutation_p.G102S	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	746										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TAGAATGACCGGCATAGACCG	0.532000													40	94					0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74335504	74335504	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:74335504C>T	ENST00000395135.3	+	8	2025	c.1885C>T	c.(1885-1887)Cac>Tac	p.H629Y	PML_ENST00000564428.1_Missense_Mutation_p.H581Y|PML_ENST00000359928.4_3'UTR|PML_ENST00000268058.3_Intron|PML_ENST00000569965.1_3'UTR|PML_ENST00000565898.1_Intron	NM_002675.3	NP_002666.1	P29590	PML_HUMAN	promyelocytic leukemia	0					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GGGCTACCCCCACCCCTTTCT	0.537000			T	"""RARA, PAX5"""	"""APL, ALL"""								17	37					0	0	1	0	0
PTK7	0	broad.mit.edu	37	6	43099822	43099822	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:43099822G>A	ENST00000230419.4	+	6	1102	c.881G>A	c.(880-882)cGc>cAc	p.R294H	PTK7_ENST00000349241.2_Missense_Mutation_p.R294H|PTK7_ENST00000345201.2_Missense_Mutation_p.R294H|PTK7_ENST00000481273.1_Missense_Mutation_p.R302H|PTK7_ENST00000471863.1_Missense_Mutation_p.R294H|PTK7_ENST00000352931.2_Missense_Mutation_p.R294H	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	294	Ig-like C2-type 3.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GTCCGGCCACGCAATGCAGGG	0.622000													14	48					0	0	1	0	0
RASSF5	83593	broad.mit.edu	37	1	206757996	206757996	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:206757996G>A	ENST00000304534.8	+	3	918	c.509G>A	c.(508-510)cGg>cAg	p.R170Q	RASSF5_ENST00000338603.2_Missense_Mutation_p.R323Q|RASSF5_ENST00000491368.1_3'UTR|EIF2D_ENST00000472709.2_Intron|RASSF5_ENST00000355294.4_Missense_Mutation_p.R323Q|RASSF5_ENST00000367117.3_Missense_Mutation_p.R323Q	NM_182665.2	NP_872606.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	323					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CTTTTTAAGCGGATACACAAG	0.537000													16	57					0	0	1	0	0
ITGAL	0	broad.mit.edu	37	16	30518157	30518157	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:30518157C>T	ENST00000356798.6	+	21	2668	c.2488C>T	c.(2488-2490)Cgc>Tgc	p.R830C	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.R746C	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	830					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	ACTCTCCTTCCGCAAGGTGGA	0.607000													64	188					0	0	1	0	0
CTD-2207O23.3	0	broad.mit.edu	37	19	7509124	7509124	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:7509124G>A	ENST00000593531.1	+	7	704	c.704G>A	c.(703-705)cGc>cAc	p.R235H	ARHGEF18_ENST00000319670.9_Silent_p.T119T|ARHGEF18_ENST00000359920.6_Silent_p.T277T																							ACGTGCGGACGCTCAAGATCA	0.637000													25	39					0	0	1	0	0
FAM76B	143684	broad.mit.edu	37	11	95519329	95519329	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:95519329C>T	ENST00000358780.5	-	4	629	c.317G>A	c.(316-318)tGc>tAc	p.C106Y	FAM76B_ENST00000536839.1_Missense_Mutation_p.C106Y	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	106										breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTGCTGTTTGCACTGTTCACA	0.373000													30	90					0	0	1	0	0
UBE3C	9690	broad.mit.edu	37	7	157049709	157049709	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:157049709T>C	ENST00000348165.5	+	22	3412	c.3052T>C	c.(3052-3054)Tgc>Cgc	p.C1018R		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	1018	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TGTAACAAGCTGCTCTCGACC	0.433000													31	82					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156741353	156741353	+	Splice_Site	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:156741353T>C	ENST00000347377.6	+	12	1543	c.1110_splice	c.e12-1	p.V371_splice	CYFIP2_ENST00000521420.1_Splice_Site_p.V345_splice|CYFIP2_ENST00000377576.3_Splice_Site_p.V371_splice|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Splice_Site_p.V45_splice|CYFIP2_ENST00000318218.6_Splice_Site_p.V371_splice|CYFIP2_ENST00000541131.1_Splice_Site_p.V296_splice|CYFIP2_ENST00000522463.1_Splice_Site_p.V175_splice	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	371					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTCCCCAGGTGGTGACGGGC	0.532000													6	71					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5462084	5462084	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:5462084G>A	ENST00000296564.7	+	13	2859	c.2637G>A	c.(2635-2637)agG>agA	p.R879R		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	879										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AACACTTGAGGCCACATAGGG	0.418000													29	91					0	0	1	0	0
CDK18	5129	broad.mit.edu	37	1	205498652	205498652	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:205498652G>A	ENST00000360066.2	+	13	1483	c.1182G>A	c.(1180-1182)ttG>ttA	p.L394L	CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Silent_p.L424L|CDK18_ENST00000429964.2_Silent_p.L394L	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	392	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity	p.L394L(1)|p.L424L(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CTTGCAGGTTGGATACGGATG	0.697000											OREG0014157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	86					0	0	1	0	0
RING1	6015	broad.mit.edu	37	6	33177832	33177832	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:33177832G>A	ENST00000374656.4	+	4	588	c.380G>A	c.(379-381)cGc>cAc	p.R127H	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	127	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GTGCTTATCCGCCTGAGCCGC	0.577000													16	65					0	0	1	0	0
SAP30L	79685	broad.mit.edu	37	5	153830731	153830731	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:153830731C>T	ENST00000297109.6	+	2	930	c.282C>T	c.(280-282)gaC>gaT	p.D94D	SAP30L_ENST00000440364.2_Intron|SAP30L_ENST00000426761.2_Intron|SAP30L_ENST00000523198.1_3'UTR	NM_024632.5	NP_078908.1	Q9HAJ7	SP30L_HUMAN	SAP30-like	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|metal ion binding			breast(1)|lung(3)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			AGACAAGTGACGATGGCGGAG	0.423000													12	34					0	0	1	0	0
TAX1BP3	30851	broad.mit.edu	37	17	3567066	3567066	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:3567066G>A	ENST00000225525.3	-	4	506	c.351C>T	c.(349-351)gcC>gcT	p.A117A	RP11-48B14.2_ENST00000550383.1_3'UTR	NM_014604.3	NP_055419.1	O14907	TX1B3_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 3	117					activation of Cdc42 GTPase activity|negative regulation of protein localization at cell surface|negative regulation of Wnt receptor signaling pathway|Rho protein signal transduction|Wnt receptor signaling pathway	cytoplasm|nucleus	protein C-terminus binding	p.A117A(1)		endometrium(1)	1				COAD - Colon adenocarcinoma(5;0.0761)		ACTGCTGCACGGCCTTCTGCA	0.632000													11	21					0	0	1	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67220750	67220750	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:67220750C>A	ENST00000314586.6	-	7	1436	c.1196G>T	c.(1195-1197)gGg>gTg	p.G399V		NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	399					exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						AGCTACCTCCCCATCCAGTGC	0.607000													11	76					1.58986e-06	1.63365e-06	1	1	0
ETHE1	23474	broad.mit.edu	37	19	44015716	44015716	+	Silent	SNP	C	C	T	rs138427304		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:44015716C>T	ENST00000600651.1	-	4	401	c.378G>A	c.(376-378)gcG>gcA	p.A126A	ETHE1_ENST00000292147.2_Silent_p.A126A			O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	126						mitochondrial matrix|nucleus	hydrolase activity|metal ion binding			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				TGGTCTCCAACGCCTGGCAGG	0.577000													13	34					0	0	1	0	0
WBP7	0	broad.mit.edu	37	19	36229230	36229230	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:36229230C>T	ENST00000420124.1	+	37	7920	c.7920C>T	c.(7918-7920)gaC>gaT	p.D2640D	WBP7_ENST00000222270.7_Silent_p.D2640D|KMT2B_ENST00000607650.1_RNA																							ATGTAGTGGACGCCACGATGC	0.582000													11	27					0	0	1	0	0
MRPL3	11222	broad.mit.edu	37	3	131208896	131208896	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:131208896C>T	ENST00000264995.3	-	5	644	c.497G>A	c.(496-498)cGg>cAg	p.R166Q	MRPL3_ENST00000425847.2_Missense_Mutation_p.R193Q|MRPL3_ENST00000506946.1_5'UTR	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	166					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TCCAAGTTCCCGGTAAAATTC	0.363000													9	21					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152484040	152484040	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:152484040G>A	ENST00000397345.3	-	69	10342	c.10140C>T	c.(10138-10140)agC>agT	p.S3380S	NEB_ENST00000409198.1_Silent_p.S3137S|NEB_ENST00000172853.10_Silent_p.S3137S|NEB_ENST00000427231.2_Silent_p.S3380S|NEB_ENST00000603639.1_Silent_p.S3380S|NEB_ENST00000604864.1_Silent_p.S3380S	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3380					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TACTCACATCGCTCTGGAGGT	0.468000													9	227					0	0	1	0	0
TMEM62	80021	broad.mit.edu	37	15	43443992	43443992	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:43443992C>T	ENST00000260403.2	+	8	1150	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	291						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		CTTTAGGTACCGGATTTTTGC	0.353000													9	107					0	0	1	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349173	103349173	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:103349173C>A	ENST00000357421.4	-	2	948	c.768G>T	c.(766-768)caG>caT	p.Q256H		NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN	solute carrier family 25, member 53	256					transport	integral to membrane|mitochondrial inner membrane											TCCATACATCCTGGGCAGAGG	0.542000													21	20					8.10497e-08	8.35994e-08	1	1	0
TBC1D4	9882	broad.mit.edu	37	13	75915275	75915275	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:75915275C>T	ENST00000377636.3	-	7	1943	c.1597G>A	c.(1597-1599)Ggg>Agg	p.G533R	TBC1D4_ENST00000431480.2_Missense_Mutation_p.G533R|TBC1D4_ENST00000377625.2_Missense_Mutation_p.G533R|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	533						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GGGCCTTCCCCGATGTGCACG	0.413000													16	38					0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40034431	40034431	+	Silent	SNP	G	G	A	rs35022178	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:40034431G>A	ENST00000352035.2	-	22	2542	c.2412C>T	c.(2410-2412)ctC>ctT	p.L804L	ACLY_ENST00000590151.1_Silent_p.L804L|ACLY_ENST00000393896.2_Silent_p.L794L|ACLY_ENST00000537919.1_Silent_p.L533L|ACLY_ENST00000353196.1_Silent_p.L794L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	804					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CATTGGCCACGAGATCTTCGT	0.502000													9	36					0	0	1	0	0
FGF9	2254	broad.mit.edu	37	13	22255282	22255282	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:22255282T>A	ENST00000382353.5	+	2	909	c.379T>A	c.(379-381)Tca>Aca	p.S127T	FGF9_ENST00000478546.1_3'UTR	NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	127					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		GCTGTATGGATCAGTAAGTAC	0.468000													12	39					0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913367	6913367	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:6913367C>T	ENST00000299459.2	-	1	463	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGCAACATAGCGATCATAGGA	0.488000													30	74					0	0	1	0	0
VIPR1	7433	broad.mit.edu	37	3	42572369	42572369	+	Missense_Mutation	SNP	C	C	T	rs142317327		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:42572369C>T	ENST00000438259.2	+	4	511	c.125C>T	c.(124-126)cCg>cTg	p.P42L	VIPR1-AS1_ENST00000598837.1_RNA|VIPR1_ENST00000433647.1_Silent_p.A204A|VIPR1-AS1_ENST00000452639.2_RNA|VIPR1_ENST00000325123.4_Silent_p.A245A|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000543411.1_Silent_p.A197A	NM_001251883.1	NP_001238812.1	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	0					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CCCTGCTTGCCGTCTCCTTCT	0.562000													9	105					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													3	33					0.115264	0.115799	1	1	0
KIAA1551	55196	broad.mit.edu	37	12	32135664	32135664	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:32135664G>A	ENST00000312561.4	+	4	2189	c.1775G>A	c.(1774-1776)cGt>cAt	p.R592H	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		TCACAGGCACGTAAGACTCAG	0.353000													11	34					0	0	1	0	0
MTMR12	54545	broad.mit.edu	37	5	32263257	32263257	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:32263257T>G	ENST00000382142.3	-	7	845	c.675A>C	c.(673-675)aaA>aaC	p.K225N	MTMR12_ENST00000264934.5_Missense_Mutation_p.K225N|MTMR12_ENST00000280285.5_Missense_Mutation_p.K225N	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	225	Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CACTCACTGCTTTGTACTTCA	0.433000													32	79					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31915745	31915745	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:31915745G>A	ENST00000456570.1	+	18	2345	c.2290G>A	c.(2290-2292)Gtc>Atc	p.V764I	CFB_ENST00000477310.1_Missense_Mutation_p.V613I|CFB_ENST00000425368.2_Missense_Mutation_p.V262I|CFB_ENST00000556679.1_Missense_Mutation_p.V764I|CFB_ENST00000497841.1_3'UTR			P00751	CFAB_HUMAN	complement factor B	262				L -> H (in Ref. 13; AAA36220).	complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GCGGAAGATCGTCCTGGACCC	0.542000													30	71					0	0	1	0	0
OFD1	8481	broad.mit.edu	37	X	13778282	13778282	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:13778282G>A	ENST00000380567.1	+	17	2155	c.1283G>A	c.(1282-1284)cGt>cAt	p.R428H	OFD1_ENST00000380550.3_Missense_Mutation_p.R528H|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000340096.6_Missense_Mutation_p.R568H			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	568					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GTGATCGATCGTTCTGTCAAT	0.418000													41	35					0	0	1	0	0
FAM186B	84070	broad.mit.edu	37	12	49998227	49998227	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:49998227G>A	ENST00000257894.2	-	2	352	c.191C>T	c.(190-192)gCc>gTc	p.A64V	FAM186B_ENST00000544141.1_5'UTR|FAM186B_ENST00000551047.1_Missense_Mutation_p.A64V|PRPF40B_ENST00000508736.1_3'UTR	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	64						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTGAGATTTGGCATTTTCTTT	0.403000													8	71					0	0	1	0	0
TPD52L3	89882	broad.mit.edu	37	9	6328900	6328900	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:6328900G>A	ENST00000344545.5	+	1	552	c.305G>A	c.(304-306)gGc>gAc	p.G102D	TPD52L3_ENST00000381428.1_Missense_Mutation_p.G102D|TPD52L3_ENST00000314556.3_Missense_Mutation_p.G102D	NM_033516.5	NP_277051.3	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	102							protein binding			large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		TCCACCATGGGCACTCTCATC	0.512000													20	107					0	0	1	0	0
MATN2	4147	broad.mit.edu	37	8	98943456	98943456	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:98943456A>G	ENST00000254898.5	+	3	649	c.418A>G	c.(418-420)Atc>Gtc	p.I140V	MATN2_ENST00000520016.1_Missense_Mutation_p.I140V|MATN2_ENST00000521689.1_Missense_Mutation_p.I140V|MATN2_ENST00000524308.1_Missense_Mutation_p.I140V|MATN2_ENST00000522025.2_Intron	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	140	VWFA 1.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGGGCTGGCCATCCAGTATGC	0.582000													21	30					0	0	1	0	0
ACSL6	23305	broad.mit.edu	37	5	131325195	131325195	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:131325195C>T	ENST00000379264.2	-	5	565	c.457G>A	c.(457-459)Gac>Aac	p.D153N	ACSL6_ENST00000379246.1_Missense_Mutation_p.D139N|ACSL6_ENST00000379255.1_Missense_Mutation_p.D93N|ACSL6_ENST00000543479.1_Missense_Mutation_p.D128N|ACSL6_ENST00000544770.1_Missense_Mutation_p.D37N|ACSL6_ENST00000379244.1_Missense_Mutation_p.D128N|ACSL6_ENST00000379240.1_Missense_Mutation_p.D128N|ACSL6_ENST00000431707.1_Missense_Mutation_p.D93N|ACSL6_ENST00000357096.1_Missense_Mutation_p.D93N|ACSL6_ENST00000379272.2_Missense_Mutation_p.D128N|ACSL6_ENST00000379249.3_Missense_Mutation_p.D128N|ACSL6_ENST00000296869.4_Missense_Mutation_p.D153N	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	128					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAGCCCTGTCGGCCACCTGC	0.458000													6	100					0	0	1	0	0
HOXD10	3236	broad.mit.edu	37	2	176983939	176983939	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:176983939G>A	ENST00000249501.4	+	2	1258	c.1003G>A	c.(1003-1005)Gcc>Acc	p.A335T	HOXD10_ENST00000490088.2_3'UTR	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	335						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		AGAACTGACCGCCAACCTCAC	0.577000													17	44					0	0	1	0	0
FLNA	0	broad.mit.edu	37	X	153587696	153587696	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:153587696G>A	ENST00000422373.1	-	25	4469	c.4221C>T	c.(4219-4221)gaC>gaT	p.D1407D	FLNA_ENST00000344736.4_Silent_p.D1407D|FLNA_ENST00000369850.3_Silent_p.D1407D|FLNA_ENST00000360319.4_Silent_p.D1407D	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1407					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCAGCTGCCGTCCTTGTTAT	0.632000													5	107					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122359385	122359385	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:122359385C>T	ENST00000288912.4	+	2	1028	c.174C>T	c.(172-174)ggC>ggT	p.G58G	WDR66_ENST00000397454.2_Silent_p.G58G	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	58	Glu-rich.						calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ggaaaacgggcgaggaggaag	0.463000													10	21					0	0	1	0	0
GGNBP2	79893	broad.mit.edu	37	17	34945826	34945826	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:34945826G>A	ENST00000304718.4	+	14	2395	c.2079G>A	c.(2077-2079)acG>acA	p.T693T		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	693					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GGTTGACAACGGCTGGAGCAA	0.383000													32	74					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52903829	52903829	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:52903829G>A	ENST00000261844.7	-	4	499	c.347C>T	c.(346-348)gCg>gTg	p.A116V	FAM214A_ENST00000546305.2_Missense_Mutation_p.A123V	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	116																	TTGCTTAATCGCAGGATCATT	0.413000													28	68					0	0	1	0	0
PELI2	57161	broad.mit.edu	37	14	56763645	56763645	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:56763645G>T	ENST00000267460.4	+	6	1310	c.1024G>T	c.(1024-1026)Ggc>Tgc	p.G342C		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	342					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						CAGGACTGTGGGCCCCTATGT	0.592000													42	87					4.14481e-20	4.34562e-20	1	1	0
CTR9	9646	broad.mit.edu	37	11	10786119	10786119	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:10786119C>T	ENST00000361367.2	+	12	1864	c.1438C>T	c.(1438-1440)Cgt>Tgt	p.R480C		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	480					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTCATTGGACCGTGCAAAAGC	0.373000													7	30					0	0	1	0	0
OCRL	4952	broad.mit.edu	37	X	128723862	128723862	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:128723862G>A	ENST00000371113.4	+	23	2675	c.2510G>A	c.(2509-2511)cGt>cAt	p.R837H	OCRL_ENST00000357121.5_Missense_Mutation_p.R829H	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	837	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AATGTTTTCCGTTACTTGATG	0.433000													26	30					0	0	1	0	0
HLX	3142	broad.mit.edu	37	1	221057685	221057685	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:221057685G>A	ENST00000366903.6	+	4	2607	c.1106G>A	c.(1105-1107)cGt>cAt	p.R369H	HLX_ENST00000549319.1_Missense_Mutation_p.R155H	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	369	Ser-rich.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		AGCCCCAGCCGTTCTGAAGGC	0.667000													14	33					0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10503688	10503688	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:10503688G>A	ENST00000444303.2	+	3	500	c.28G>A	c.(28-30)Gcc>Acc	p.A10T	AMPD3_ENST00000396554.3_Missense_Mutation_p.A178T	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	169					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TGCGCGGCTCGCCTACCACCG	0.617000													46	121					0	0	1	0	0
STXBP3	6814	broad.mit.edu	37	1	109336253	109336253	+	Missense_Mutation	SNP	G	G	A	rs147446724		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:109336253G>A	ENST00000370008.3	+	12	1063	c.1013G>A	c.(1012-1014)cGa>cAa	p.R338Q		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	338					negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		CCCCATTTCCGAAAACAGATT	0.338000													19	42					0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43907568	43907568	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:43907568C>T	ENST00000314537.5	+	6	768	c.543C>T	c.(541-543)caC>caT	p.H181H	CRHR1_ENST00000577353.1_Silent_p.H181H|CRHR1_ENST00000398285.3_Silent_p.H210H|CRHR1_ENST00000352855.5_Silent_p.H141H|CRHR1_ENST00000293493.7_Silent_p.H6H|CRHR1_ENST00000339069.5_Silent_p.H80H	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	210					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CCGAGGTCCACCAGAGCAACG	0.647000													6	57					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1267116	1267116	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:1267116G>A	ENST00000447027.1	+	31	9073	c.9015G>A	c.(9013-9015)acG>acA	p.T3005T	MUC5B_ENST00000529681.1_Silent_p.T3002T|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3002	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCCACTACGACCGCAACCA	0.677000													68	195					0	0	1	0	0
POLN	353497	broad.mit.edu	37	4	2129906	2129906	+	Missense_Mutation	SNP	G	G	A	rs144575256		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:2129906G>A	ENST00000511885.2	-	19	2269	c.1916C>T	c.(1915-1917)cCg>cTg	p.P639L	POLN_ENST00000382865.1_Missense_Mutation_p.P639L			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	639					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CAGAAGTTCCGGATCTCCAGA	0.363000								DNA polymerases (catalytic subunits)					5	20					0	0	1	0	0
ECI1	1632	broad.mit.edu	37	16	2290114	2290114	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:2290114G>A	ENST00000301729.4	-	7	822	c.775C>T	c.(775-777)Cga>Tga	p.R259*	ECI1_ENST00000570258.1_Nonsense_Mutation_p.R200*|ECI1_ENST00000562238.1_Nonsense_Mutation_p.R242*	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN	enoyl-CoA delta isomerase 1	259					fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity			endometrium(1)|large_intestine(2)|lung(6)	9						GTGGCCTTTCGCATCATGGCC	0.557000													14	26					0	0	1	0	0
ZNF551	90233	broad.mit.edu	37	19	58198231	58198231	+	Silent	SNP	C	C	T	rs150173912	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:58198231C>T	ENST00000282296.5	+	3	773	c.588C>T	c.(586-588)caC>caT	p.H196H	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Silent_p.H180H	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN	zinc finger protein 551	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TACTCCAACACGAAGCCACTC	0.498000													14	73					0	0	1	0	0
UBE2U	148581	broad.mit.edu	37	1	64698334	64698334	+	Splice_Site	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:64698334T>C	ENST00000371077.4	+	7	1019		c.e7+2		UBE2U_ENST00000464349.1_Splice_Site|UBE2U_ENST00000371076.3_Splice_Site			Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)								ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(3)|lung(2)|skin(1)	6						GAACTCCATGTAAGGTGAACT	0.338000													7	26					0	0	1	0	0
PCDHB15	0	broad.mit.edu	37	5	140625331	140625331	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140625331G>A	ENST00000231173.3	+	1	185	c.185G>A	c.(184-186)cGg>cAg	p.R62Q		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		62	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTAGCCGAGCGGGGAGCCCGG	0.552000													36	96					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1652754	1652754	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:1652754C>T	ENST00000252804.4	-	17	2848	c.2798G>A	c.(2797-2799)cGc>cAc	p.R933H		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	933					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CAGCAGGCCGCGGTGGCTGGC	0.692000													11	34					0	0	1	0	0
TIGD3	220359	broad.mit.edu	37	11	65124395	65124395	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:65124395G>A	ENST00000309880.5	+	2	1323	c.1116G>A	c.(1114-1116)ccG>ccA	p.P372P		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	372					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						AAACGCCCCCGTCCTCGCACA	0.632000													38	91					0	0	1	0	0
RIT1	6016	broad.mit.edu	37	1	155874275	155874275	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:155874275G>A	ENST00000368323.3	-	5	460	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	RIT1_ENST00000461050.1_5'UTR|RIT1_ENST00000539040.1_Missense_Mutation_p.R50W|RIT1_ENST00000368322.3_Missense_Mutation_p.R103W	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	86					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			TACTGGTCCCGCATGGCTGTA	0.413000													4	40					0	0	1	0	0
RTP2	344892	broad.mit.edu	37	3	187416696	187416696	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:187416696G>A	ENST00000358241.1	-	2	696	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	90					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		TTGAAGACGCGCATGCGCACC	0.647000													3	34					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45633591	45633591	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:45633591C>T	ENST00000327619.5	+	4	540	c.166C>T	c.(166-168)Cgt>Tgt	p.R56C	EYA2_ENST00000357410.3_Missense_Mutation_p.R56C|EYA2_ENST00000317304.6_Missense_Mutation_p.R56C	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	56					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				ATCTTGCCCACGTGTCCTCCC	0.562000													18	86					0	0	1	0	0
GALNS	2588	broad.mit.edu	37	16	88898438	88898438	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:88898438C>T	ENST00000268695.5	-	9	1058	c.970G>A	c.(970-972)Gca>Aca	p.A324T	GALNS_ENST00000542788.1_Missense_Mutation_p.A249T	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	324						lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	GGCCACCATGCGAGGGCAGGC	0.672000													12	45					0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73482398	73482398	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:73482398G>A	ENST00000314256.7	+	5	694	c.300G>A	c.(298-300)tcG>tcA	p.S100S	KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000375248.5_Silent_p.S110S	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	100					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGAATGCCTCGGCCTTGTTCC	0.657000													39	152					0	0	1	0	0
NMBR	4829	broad.mit.edu	37	6	142399950	142399950	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:142399950G>A	ENST00000258042.1	-	2	653	c.513C>T	c.(511-513)tcC>tcT	p.S171S		NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	171					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CCAGCAACACGGAGACCACCC	0.532000													29	71					0	0	1	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171232	68171232	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:68171232G>A	ENST00000243457.3	+	2	435	c.52G>A	c.(52-54)Ggt>Agt	p.G18S	KCNJ2_ENST00000535240.1_Missense_Mutation_p.G18S	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	18					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AGAAGAAGACGGTATGAAGTT	0.522000													19	51					0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6467555	6467555	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:6467555C>T	ENST00000381480.2	-	23	2478	c.2366G>A	c.(2365-2367)cGg>cAg	p.R789Q	DENND1C_ENST00000543576.1_Missense_Mutation_p.R745Q	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	789						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GACTCTGGGCCGGCTGCTGGG	0.572000													19	51					0	0	1	0	0
TFAP4	7023	broad.mit.edu	37	16	4312619	4312619	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:4312619C>T	ENST00000204517.6	-	2	501	c.173G>A	c.(172-174)cGg>cAg	p.R58Q		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	58					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CATGCGTCTCCGCTCGTTGCT	0.622000													30	110					0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184294936	184294936	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:184294936G>A	ENST00000330394.2	+	5	1771	c.1319G>A	c.(1318-1320)cGt>cAt	p.R440H	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	440	Fibronectin type-III 1.		R -> C (in dbSNP:rs56029711).			integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CTGCCGCCTCGTTATGCGGCC	0.632000													16	28					0	0	1	0	0
PCDHGA1	0	broad.mit.edu	37	5	140712516	140712516	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140712516C>T	ENST00000517417.1	+	1	2265	c.2265C>T	c.(2263-2265)caC>caT	p.H755H	PCDHGA1_ENST00000378105.3_Silent_p.H755H	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTATTCCCACGAGGTCTCCC	0.607000													64	157					0	0	1	0	0
SPAG8	26206	broad.mit.edu	37	9	35809979	35809979	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:35809979C>T	ENST00000484764.1	-	7	1430	c.1390G>A	c.(1390-1392)Gga>Aga	p.G464R	SPAG8_ENST00000396638.2_Missense_Mutation_p.G472R|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000340291.2_Intron			Q99932	SPAG8_HUMAN	sperm associated antigen 8	99						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			AGCCTTCCTCCGGGACAGGGA	0.507000													59	165					0	0	1	0	0
ASGR2	433	broad.mit.edu	37	17	7005025	7005025	+	Missense_Mutation	SNP	C	C	T	rs144253358		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:7005025C>T	ENST00000380952.2	-	9	1069	c.805G>A	c.(805-807)Ggg>Agg	p.G269R	ASGR2_ENST00000355035.5_Missense_Mutation_p.G269R|ASGR2_ENST00000254850.7_Missense_Mutation_p.G245R|ASGR2_ENST00000446679.2_Missense_Mutation_p.G250R	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172.1|NP_001188281.1|NP_550434.1	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	269	C-type lectin.				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	AGCTCGTGCCCGTGCCAATTA	0.567000													17	37					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72197283	72197283	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:72197283C>T	ENST00000356056.5	-	20	3222	c.2750G>A	c.(2749-2751)cGc>cAc	p.R917H	MYO9A_ENST00000564571.1_Missense_Mutation_p.R917H|MYO9A_ENST00000444904.1_Missense_Mutation_p.R898H|MYO9A_ENST00000566885.1_Missense_Mutation_p.R537H|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.R917H	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	917	Actin-binding (By similarity).|Myosin head-like 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGCATTAGAGCGAATGCATTT	0.348000													12	36					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52667640	52667640	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:52667640C>T	ENST00000399231.3	-	20	2681	c.2438G>A	c.(2437-2439)cGc>cAc	p.R813H	MYO5A_ENST00000356338.6_Missense_Mutation_p.R813H|MYO5A_ENST00000553916.1_Missense_Mutation_p.R813H|MYO5A_ENST00000358212.6_Missense_Mutation_p.R813H|MYO5A_ENST00000399233.2_Missense_Mutation_p.R813H	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	813	IQ 2.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTTGGTTCTGCGCAGAAACTT	0.413000													14	27					0	0	1	0	0
SCYL1	57410	broad.mit.edu	37	11	65303495	65303495	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:65303495G>A	ENST00000524944.1	+	11	1491	c.1458G>A	c.(1456-1458)gcG>gcA	p.A486A	SCYL1_ENST00000527009.1_Silent_p.A343A|SCYL1_ENST00000270176.5_Silent_p.A486A|SCYL1_ENST00000279270.6_Silent_p.A486A|SCYL1_ENST00000525364.1_Silent_p.A486A|SCYL1_ENST00000527630.1_Silent_p.A486A|SCYL1_ENST00000420247.2_Silent_p.A486A|SCYL1_ENST00000533862.1_Silent_p.A486A			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	486					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	p.A486A(1)		ovary(1)|skin(1)	2						CCCGGGTTGCGGGTGTCCTGG	0.597000													31	74					0	0	1	0	0
NRBP1	29959	broad.mit.edu	37	2	27658073	27658073	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:27658073G>A	ENST00000233557.3	+	8	1472	c.640G>A	c.(640-642)Gga>Aga	p.G214R	NRBP1_ENST00000379863.3_Missense_Mutation_p.G214R|NRBP1_ENST00000379852.3_Missense_Mutation_p.G214R			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	214	Protein kinase.				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CCAGCACAACGGACTCATCAA	0.582000													7	72					0	0	1	0	0
GHDC	84514	broad.mit.edu	37	17	40342329	40342329	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:40342329G>T	ENST00000414034.3	-	9	1535	c.1337C>A	c.(1336-1338)cCa>cAa	p.P446Q	GHDC_ENST00000593209.1_Intron|GHDC_ENST00000301671.8_Intron|GHDC_ENST00000587427.1_Intron|GHDC_ENST00000428494.2_Intron|GHDC_ENST00000436923.2_Missense_Mutation_p.P446Q	NM_001142623.1	NP_001136095.1	Q8N2G8	GHDC_HUMAN	GH3 domain containing	363						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		TCCGGTGAATGGGCAGCTGCC	0.537000													15	26					1.49906e-05	1.53742e-05	1	1	0
PJA1	64219	broad.mit.edu	37	X	68381892	68381892	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:68381892G>A	ENST00000361478.1	-	2	1567	c.1190C>T	c.(1189-1191)cCg>cTg	p.P397L	PJA1_ENST00000374584.3_Missense_Mutation_p.P209L|PJA1_ENST00000374583.1_Missense_Mutation_p.P397L|PJA1_ENST00000374571.4_Missense_Mutation_p.P342L	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	397							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TTCTTTCCCCGGCAGAGTCTC	0.627000													17	23					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414280	20414280	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:20414280G>A	ENST00000380338.4	-	5	850	c.564C>T	c.(562-564)agC>agT	p.S188S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	188	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S188S(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGGTActactgctgctgctgc	0.502000			T	MLL	ALL								5	151					0	0	1	0	0
EIF3B	8662	broad.mit.edu	37	7	2404100	2404100	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:2404100T>A	ENST00000360876.4	+	6	1149	c.1093T>A	c.(1093-1095)Ttc>Atc	p.F365I	EIF3B_ENST00000397011.2_Missense_Mutation_p.F365I	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	365	Sufficient for interaction with EIF3E.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GGGAGAGAAATTCAAGCAAAT	0.478000													6	130					0	0	1	0	0
HOXC10	3226	broad.mit.edu	37	12	54379096	54379096	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:54379096C>T	ENST00000303460.4	+	1	127	c.53C>T	c.(52-54)gCg>gTg	p.A18V	HOXC-AS3_ENST00000514702.1_RNA	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	18					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						CCCTTGGCTGCGCCCGGCGGA	0.597000													44	130					0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7753465	7753465	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:7753465A>T	ENST00000254846.5	+	13	4032	c.3643A>T	c.(3643-3645)Atc>Ttc	p.I1215F	KDM6B_ENST00000448097.2_Missense_Mutation_p.I1215F	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1215					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CATCACAGTGATCCGGGGCCT	0.592000													9	40					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152387573	152387573	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:152387573A>C	ENST00000397345.3	-	145	21767	c.21565T>G	c.(21565-21567)Tac>Gac	p.Y7189D	NEB_ENST00000409198.1_Missense_Mutation_p.Y5488D|NEB_ENST00000172853.10_Missense_Mutation_p.Y5488D|NEB_ENST00000427231.2_Missense_Mutation_p.Y7189D|NEB_ENST00000603639.1_Missense_Mutation_p.Y7189D|NEB_ENST00000604864.1_Missense_Mutation_p.Y7189D	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5488					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATTGTGGTGTAGCCTCTGGGT	0.403000													9	18					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25953223	25953223	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:25953223G>A	ENST00000356865.6	-	12	2586	c.2475C>T	c.(2473-2475)tgC>tgT	p.C825C		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	825					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TTTGCAACCAGCAGGCATACT	0.567000													10	74					0	0	1	0	0
STK4	6789	broad.mit.edu	37	20	43623811	43623811	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:43623811C>A	ENST00000372806.3	+	6	701	c.606C>A	c.(604-606)aaC>aaA	p.N202K	STK4_ENST00000372801.1_Missense_Mutation_p.N202K|STK4_ENST00000499879.2_Missense_Mutation_p.N147K|STK4_ENST00000396731.4_Missense_Mutation_p.N202K	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	202	Protein kinase.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				TTGGATACAACTGTGTAGCAG	0.448000													38	81					2.09667e-21	2.20252e-21	1	1	0
LRP2	4036	broad.mit.edu	37	2	170099968	170099968	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:170099968C>T	ENST00000263816.3	-	23	3780	c.3495G>A	c.(3493-3495)tcG>tcA	p.S1165S	LRP2_ENST00000443831.1_Silent_p.S1028S	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1165	LDL-receptor class A 11.				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)	CACAGACAAACGATAGGTCAA	0.373000													27	98					0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45295123	45295123	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:45295123G>A	ENST00000447098.2	-	9	1177	c.1166C>T	c.(1165-1167)gCg>gTg	p.A389V	PTCH2_ENST00000372192.3_Missense_Mutation_p.A389V	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	389					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TTCAGAGAACGCATGCAGGAT	0.622000									Basal Cell Nevus syndrome				49	103					0	0	1	0	0
ACHE	43	broad.mit.edu	37	7	100490935	100490935	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:100490935G>A	ENST00000302913.4	-	2	1057	c.919C>T	c.(919-921)Cga>Tga	p.R307*	ACHE_ENST00000241069.5_Nonsense_Mutation_p.R307*|ACHE_ENST00000412389.1_Nonsense_Mutation_p.R307*|ACHE_ENST00000411582.1_Nonsense_Mutation_p.R307*|ACHE_ENST00000428317.1_Nonsense_Mutation_p.R307*|ACHE_ENST00000419336.2_Nonsense_Mutation_p.R307*	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	307					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	TGCGCTGGTCGTGTCCGAAGG	0.627000													15	26					0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	40946968	40946968	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:40946968G>A	ENST00000295974.8	-	7	1584	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	APBB2_ENST00000508593.1_Missense_Mutation_p.R320W|APBB2_ENST00000513140.1_Missense_Mutation_p.R319W|APBB2_ENST00000506352.1_Missense_Mutation_p.R319W	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	319	WW.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GAGACGGGCCGTTCCCACTGA	0.527000													22	84					0	0	1	0	0
IL17B	27190	broad.mit.edu	37	5	148756445	148756445	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:148756445C>T	ENST00000261796.3	-	2	215	c.165G>A	c.(163-165)ccG>ccA	p.P55P	IL17B_ENST00000505432.1_5'UTR	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	55					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGGCATACGGTTTCATCC	0.622000													38	97					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10480680	10480680	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:10480680G>A	ENST00000382483.3	-	2	255	c.32C>T	c.(31-33)cCg>cTg	p.P11L	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	11					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACGGTGGCTCGGGGCCTGGGC	0.642000													4	118					0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214556938	214556938	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:214556938C>T	ENST00000366956.5	-	13	2454	c.2260G>A	c.(2260-2262)Ggt>Agt	p.G754S	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	754					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TTCCTTGGACCGGGGTACTCA	0.667000													5	94					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73152135	73152135	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:73152135C>T	ENST00000377110.2	-	25	4101	c.3858G>A	c.(3856-3858)tcG>tcA	p.S1286S	TRPM3_ENST00000377105.1_Silent_p.S1145S|TRPM3_ENST00000396285.1_Silent_p.S1145S|TRPM3_ENST00000358082.3_Silent_p.S1148S|TRPM3_ENST00000408909.2_Silent_p.S1145S|TRPM3_ENST00000377111.2_Silent_p.S1286S|TRPM3_ENST00000396280.5_Silent_p.S1135S|TRPM3_ENST00000396292.4_Silent_p.S1158S|TRPM3_ENST00000377106.1_Silent_p.S1158S|TRPM3_ENST00000360823.2_Silent_p.S1148S|TRPM3_ENST00000357533.2_Silent_p.S1290S|TRPM3_ENST00000423814.3_Silent_p.S1313S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1311						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGCAGTCTGACGAGGTCCTCG	0.612000													42	92					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41573944	41573944	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:41573944A>G	ENST00000263253.7	+	31	7448	c.6229A>G	c.(6229-6231)Aac>Gac	p.N2077D	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2077	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCTTCACGCCAACCCCCAGCT	0.572000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				12	137					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171431771	171431771	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:171431771C>T	ENST00000356327.5	-	9	893	c.823G>A	c.(823-825)Gtc>Atc	p.V275I	PLD1_ENST00000342215.6_Missense_Mutation_p.V275I|PLD1_ENST00000351298.4_Missense_Mutation_p.V275I|PLD1_ENST00000340989.4_Missense_Mutation_p.V275I	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	275	PH.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACCAGCAGGACGAAGGCAATG	0.358000													17	45					0	0	1	0	0
FARSB	10056	broad.mit.edu	37	2	223489482	223489482	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:223489482G>A	ENST00000281828.6	-	11	1176	c.913C>T	c.(913-915)Cga>Tga	p.R305*	FARSB_ENST00000536361.1_Nonsense_Mutation_p.R206*	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	305	B5.				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	ATCTCCTTTCGGTAAGCTAAT	0.328000													7	11					0	0	1	0	0
BLVRB	645	broad.mit.edu	37	19	40964125	40964125	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:40964125C>T	ENST00000263368.4	-	3	422	c.271G>A	c.(271-273)Gcc>Acc	p.A91T	BLVRB_ENST00000595483.1_Missense_Mutation_p.A91T	NM_000713.2	NP_000704.1	P30043	BLVRB_HUMAN	biliverdin reductase B (flavin reductase (NADPH))	91					heme catabolic process	cytosol	biliverdin reductase activity|binding|flavin reductase activity			large_intestine(3)|lung(3)	6			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		NADH(DB00157)|Riboflavin(DB00140)	ATGTTCCGGGCGCCCTCGGAC	0.687000													4	24					0	0	1	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20370201	20370201	+	RNA	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:20370201G>A	ENST00000593655.1	-	0	199																											CCTTGTGCTAGAGAAACTTGG	0.413000													11	49					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119979079	119979079	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:119979079G>A	ENST00000307142.4	+	5	3972	c.3776G>A	c.(3775-3777)cGc>cAc	p.R1259H	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGATGGAGACGCCAAACATGA	0.383000													15	46					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18622252	18622252	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:18622252C>T	ENST00000380548.4	+	5	825	c.486C>T	c.(484-486)tgC>tgT	p.C162C	ADAMTSL1_ENST00000380566.4_Silent_p.C162C|ADAMTSL1_ENST00000380570.4_Silent_p.C162C|ADAMTSL1_ENST00000327883.7_Silent_p.C162C|ADAMTSL1_ENST00000276935.6_Silent_p.C162C	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	162						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTGTTGGCTGCGATCACCAGC	0.512000													6	68					0	0	1	0	0
ACCS	84680	broad.mit.edu	37	11	44098898	44098898	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:44098898G>A	ENST00000263776.8	+	7	1060	c.626G>A	c.(625-627)cGg>cAg	p.R209Q	ACCS_ENST00000432284.2_3'UTR|ACCS_ENST00000533208.1_3'UTR	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	209							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GGCAACATCCGGCTGGCCTAT	0.567000													55	164					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29996668	29996668	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:29996668G>A	ENST00000308893.4	+	14	2600	c.1557G>A	c.(1555-1557)gaG>gaA	p.E519E	TAOK2_ENST00000279394.3_Silent_p.E519E|TAOK2_ENST00000416441.2_Silent_p.E346E|TAOK2_ENST00000543033.1_Silent_p.E519E	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	519					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	p.E519D(2)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						AACGGGAGGAGCACAGTGCAC	0.672000													13	29					0	0	1	0	0
EPS8L2	64787	broad.mit.edu	37	11	720196	720196	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:720196G>A	ENST00000533256.1	+	6	675	c.300G>A	c.(298-300)tcG>tcA	p.S100S	EPS8L2_ENST00000526198.1_Silent_p.S100S|EPS8L2_ENST00000530636.1_Silent_p.S100S|EPS8L2_ENST00000318562.8_Silent_p.S100S|AP006621.9_ENST00000527021.2_RNA			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	100	PID.					cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGACCAGTCGCTGCGGCTGC	0.662000													5	72					0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9841702	9841702	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:9841702G>A	ENST00000380913.3	+	2	266	c.176G>A	c.(175-177)gGc>gAc	p.G59D		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	59	PDZ.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				ATTGAAGAGGGCAGTAAAGCC	0.532000											OREG0019659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	34					0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43687179	43687179	+	Silent	SNP	G	G	A	rs148070276		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:43687179G>A	ENST00000360835.3	-	4	483	c.357C>T	c.(355-357)gaC>gaT	p.D119D	SCUBE1_ENST00000290460.7_Silent_p.D119D	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	119	EGF-like 3; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CCTGACACTCGTCCACATCTG	0.542000													4	35					0	0	1	0	0
RIMKLA	284716	broad.mit.edu	37	1	42880409	42880409	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:42880409C>A	ENST00000431473.3	+	5	1069	c.940C>A	c.(940-942)Ctc>Atc	p.L314I		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	314					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GATGGCTGTCCTCCCAGGACT	0.532000													25	95					1.10923e-09	1.14961e-09	1	1	0
ZKSCAN2	342357	broad.mit.edu	37	16	25268328	25268328	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:25268328A>G	ENST00000328086.7	-	1	924	c.121T>C	c.(121-123)Tct>Cct	p.S41P		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	41					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		AAGGTCTCAGAGCTATCCGAT	0.522000											OREG0023690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	57					0	0	1	0	0
CDC42EP1	11135	broad.mit.edu	37	22	37962592	37962592	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:37962592G>A	ENST00000249014.4	+	2	656	c.236G>A	c.(235-237)cGc>cAc	p.R79H		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	79					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CGCTCACCCCGCAGCTTCCTG	0.706000													18	36					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814359	106814359	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:106814359C>T	ENST00000407775.2	+	8	2299	c.2049C>T	c.(2047-2049)gaC>gaT	p.D683D	ZFPM2_ENST00000520492.1_Silent_p.D551D|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Silent_p.D551D|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Silent_p.D414D|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	683					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GGGAAAGTGACCCAAATAAGA	0.453000													3	38					0	0	1	0	0
ZNF701	55762	broad.mit.edu	37	19	53085961	53085961	+	Missense_Mutation	SNP	C	C	T	rs148286783		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:53085961C>T	ENST00000540331.1	+	5	1072	c.847C>T	c.(847-849)Cgt>Tgt	p.R283C	ZNF701_ENST00000301093.2_Missense_Mutation_p.R283C|ZNF701_ENST00000391785.3_Missense_Mutation_p.R217C|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		ATCTTTCCAACGTAATGAGAG	0.353000													24	48					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201618018	201618018	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:201618018C>T	ENST00000367296.4	+	1	642	c.222C>T	c.(220-222)agC>agT	p.S74S	NAV1_ENST00000367297.4_Silent_p.S74S|NAV1_ENST00000367302.1_Silent_p.S87S|NAV1_ENST00000295624.6_Silent_p.S74S|NAV1_ENST00000367300.3_Silent_p.S74S	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	74					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GCGTGGACAGCCGTGTCCCCG	0.667000													16	54					0	0	1	0	0
CDKL2	8999	broad.mit.edu	37	4	76521466	76521466	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:76521466G>T	ENST00000429927.2	-	10	2084	c.1381C>A	c.(1381-1383)Cca>Aca	p.P461T	CDKL2_ENST00000307465.4_Missense_Mutation_p.P461T	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	461					sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ATGCCTGATGGGGAATGTCTG	0.338000													8	39					2.17888e-05	2.23252e-05	1	1	0
EXOSC10	5394	broad.mit.edu	37	1	11158106	11158106	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:11158106G>A	ENST00000544779.1	-	2	224	c.219C>T	c.(217-219)tgC>tgT	p.C73C	EXOSC10_ENST00000376936.4_Silent_p.C73C|EXOSC10_ENST00000304457.7_Silent_p.C73C			Q01780	EXOSX_HUMAN	exosome component 10	73					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CCTGTGTTTCGCAAAATGCTT	0.428000													3	26					0	0	1	0	0
DLX4	0	broad.mit.edu	37	17	48051191	48051191	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:48051191T>C	ENST00000240306.3	+	3	902	c.607T>C	c.(607-609)Tcc>Ccc	p.S203P	DLX4_ENST00000411890.2_Missense_Mutation_p.S131P	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	203				S -> Y (in Ref. 1; AAC50942).	multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						ACCCCTCCCCTCCCTCTGGGA	0.592000													4	105					0	0	1	0	0
KIAA1967	0	broad.mit.edu	37	8	22472378	22472378	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:22472378G>A	ENST00000308511.4	+	11	1318	c.1069G>A	c.(1069-1071)Gca>Aca	p.A357T	RP11-582J16.5_ENST00000521025.1_RNA|KIAA1967_ENST00000389279.3_Missense_Mutation_p.A357T|KIAA1967_ENST00000520861.1_Missense_Mutation_p.A32T			Q8N163	K1967_HUMAN		357					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		AGAAGAGGAGGCAGTGCTGGT	0.587000													5	53					0	0	1	0	0
TMEM66	51669	broad.mit.edu	37	8	29921408	29921408	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:29921408C>T	ENST00000256255.6	-	6	1273	c.1016G>A	c.(1015-1017)cGa>cAa	p.R339Q	TMEM66_ENST00000545648.1_Missense_Mutation_p.R167Q|TMEM66_ENST00000536273.1_Missense_Mutation_p.R167Q	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN	transmembrane protein 66	339						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		TCTACTTTATCGTCTCCTGGT	0.313000													21	41					0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97527616	97527616	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:97527616C>T	ENST00000305476.5	-	13	1591	c.1459G>A	c.(1459-1461)Ggc>Agc	p.G487S		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	487	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GAGCGGGAGCCGGCAAAGAGC	0.687000													5	27					0	0	1	0	0
ACCSL	390110	broad.mit.edu	37	11	44079911	44079911	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:44079911C>T	ENST00000378832.1	+	12	1428	c.1372C>T	c.(1372-1374)Cgg>Tgg	p.R458W		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	458							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CTACCGGCTCCGGGAAGCTCA	0.463000													4	99					0	0	1	0	0
CREBL2	1389	broad.mit.edu	37	12	12788823	12788823	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:12788823G>A	ENST00000228865.2	+	2	409	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	CREBL2_ENST00000540224.1_3'UTR	NM_001310.2	NP_001301.1	O60519	CRBL2_HUMAN	cAMP responsive element binding protein-like 2	43					cell cycle|signal transduction	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)	1		Prostate(47;0.0684)		BRCA - Breast invasive adenocarcinoma(232;0.0503)		TGCCGAGCCCGAAAAAAGCTG	0.463000													13	31					0	0	1	0	0
TRAK2	66008	broad.mit.edu	37	2	202245769	202245769	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:202245769G>A	ENST00000332624.3	-	16	2670	c.2242C>T	c.(2242-2244)Cga>Tga	p.R748*		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	748				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GAGATGCCTCGCTCTTGTAGA	0.512000													50	162					0	0	1	0	0
NACC1	112939	broad.mit.edu	37	19	13249043	13249043	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:13249043C>T	ENST00000292431.4	+	6	1533	c.1407C>T	c.(1405-1407)cgC>cgT	p.R469R		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	469	BEN.				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						ACGCCCGCCGCGTCGTGCGCA	0.607000													61	158					0	0	1	0	0
DHTKD1	55526	broad.mit.edu	37	10	12131158	12131158	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:12131158C>T	ENST00000263035.4	+	5	953	c.891C>T	c.(889-891)gcC>gcT	p.A297A	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	297					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			ACCCCGTGGCCGTGGGCAAAA	0.612000													7	117					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72776115	72776115	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:72776115C>T	ENST00000299687.5	+	8	6438	c.6438C>T	c.(6436-6438)atC>atT	p.I2146I		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	2146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CGCAGATCATCGTGACGGAGG	0.652000													9	8					0	0	1	0	0
GOLPH3L	55204	broad.mit.edu	37	1	150636167	150636167	+	Missense_Mutation	SNP	G	G	A	rs149790730		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:150636167G>A	ENST00000271732.3	-	3	300	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	GOLPH3L_ENST00000540514.1_Intron	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	86						Golgi cisterna membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ATTCGACCCCGCATGGCCAGC	0.507000													6	92					0	0	1	0	0
TEAD1	7003	broad.mit.edu	37	11	12901217	12901217	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:12901217G>A	ENST00000526600.1	+	1	228	c.5G>A	c.(4-6)cGt>cAt	p.R2H	TEAD1_ENST00000361905.4_Intron|TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000361985.2_Intron|TEAD1_ENST00000527575.1_Intron|TEAD1_ENST00000527636.1_Intron			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	0					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GTAGCCATGCGTTATGTATTA	0.488000													31	62					0	0	1	0	0
CTBP2	1488	broad.mit.edu	37	10	126714845	126714845	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:126714845C>T	ENST00000309035.6	-	1	1614	c.1484G>A	c.(1483-1485)cGc>cAc	p.R495H	CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000531469.1_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	55					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GGCCACGTTGCGCTCCCTCTT	0.692000													5	104					0	0	1	0	0
PTPN1	5770	broad.mit.edu	37	20	49195732	49195732	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:49195732G>A	ENST00000371621.3	+	7	904	c.730G>A	c.(730-732)Gtt>Att	p.V244I	PTPN1_ENST00000541713.1_Missense_Mutation_p.V171I	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	244	Tyrosine-protein phosphatase.				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	CCCTTCTTCCGTTGATATCAA	0.488000													52	189					0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28843606	28843606	+	Missense_Mutation	SNP	G	G	A	rs150073438		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:28843606G>A	ENST00000336783.4	+	11	1569	c.1402G>A	c.(1402-1404)Ggc>Agc	p.G468S	ATXN2L_ENST00000395547.2_Missense_Mutation_p.G468S|ATXN2L_ENST00000382686.4_Missense_Mutation_p.G468S|ATXN2L_ENST00000340394.8_Missense_Mutation_p.G468S|ATXN2L_ENST00000570200.1_Missense_Mutation_p.G468S|ATXN2L_ENST00000325215.6_Missense_Mutation_p.G468S|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Missense_Mutation_p.G474S	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	468						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GCCTCCCATCGGCTCGGCAGT	0.592000													27	73					0	0	1	0	0
CPN1	1369	broad.mit.edu	37	10	101825108	101825108	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:101825108G>A	ENST00000370418.3	-	4	847	c.596C>T	c.(595-597)gCg>gTg	p.A199V		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	199	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CCGGATCACCGCCCGGGTCTC	0.577000													13	55					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136913360	136913360	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:136913360G>A	ENST00000359015.4	-	23	3536	c.3176C>T	c.(3175-3177)aCg>aTg	p.T1059M	MAP3K5_ENST00000355845.4_Missense_Mutation_p.T306M	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1059					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTGGTCTTCCGTCAGGATCCT	0.448000													49	110					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51378749	51378749	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:51378749C>T	ENST00000266037.9	+	38	3871	c.3848C>T	c.(3847-3849)tCg>tTg	p.S1283L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1283	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CACTACCCATCGCAGACAGAG	0.552000													10	21					0	0	1	0	0
SLC5A10	125206	broad.mit.edu	37	17	18874469	18874469	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:18874469C>T	ENST00000317977.6	+	7	1106	c.535C>T	c.(535-537)Ccg>Tcg	p.P179S	SLC5A10_ENST00000395643.2_Missense_Mutation_p.P235S|FAM83G_ENST00000345041.4_3'UTR|SLC5A10_ENST00000395645.3_Missense_Mutation_p.P262S|FAM83G_ENST00000388995.6_3'UTR|SLC5A10_ENST00000395647.2_Missense_Mutation_p.P262S|SLC5A10_ENST00000395642.1_Missense_Mutation_p.P179S|SLC5A10_ENST00000417251.2_Missense_Mutation_p.P262S|FAM83G_ENST00000585154.2_3'UTR			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	262					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						AGGGGACCTGCCGTGGACCGG	0.637000													21	51					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515877	51515877	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:51515877C>T	ENST00000328188.1	+	1	596	c.596C>T	c.(595-597)gCc>gTc	p.A199V		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TTCATTGCTGCCAACAGTGGA	0.483000													8	102					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140482934	140482934	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:140482934T>C	ENST00000288602.6	-	10	1261	c.1201A>G	c.(1201-1203)Acc>Gcc	p.T401A		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	401					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GCAGGGGGGGTAGCAGACAAA	0.438000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				14	26					0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40850401	40850401	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:40850401C>T	ENST00000255224.3	-	4	1551	c.1183G>A	c.(1183-1185)Gca>Aca	p.A395T	SYT4_ENST00000590752.1_Missense_Mutation_p.A377T|SYT4_ENST00000586678.1_5'UTR	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	395						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TCTGCTGCTGCACCCAAGACT	0.483000													12	220					0	0	1	0	0
XKR8	55113	broad.mit.edu	37	1	28290024	28290024	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:28290024C>T	ENST00000373884.5	+	2	918	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	104						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)		GCAGGAGCTGCGGCAGGGGCT	0.607000													15	63					0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	2196168	2196168	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:2196168C>T	ENST00000544865.1	-	5	2672	c.2162G>A	c.(2161-2163)cGc>cAc	p.R721H	SMG6_ENST00000263073.5_Missense_Mutation_p.R752H			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	752					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AAAGTACCTGCGTGCTTTCCC	0.478000													15	54					0	0	1	0	0
TMEM180	79847	broad.mit.edu	37	10	104230506	104230506	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:104230506G>A	ENST00000238936.4	+	5	573	c.336G>A	c.(334-336)tcG>tcA	p.S112S	TMEM180_ENST00000366277.2_Intron|TMEM180_ENST00000369931.3_Intron	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	112						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGGCGCTGTCGTTCCTGGCGT	0.692000													61	134					0	0	1	0	0
TBL3	10607	broad.mit.edu	37	16	2025082	2025082	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:2025082C>T	ENST00000568546.1	+	7	746	c.618C>T	c.(616-618)gaC>gaT	p.D206D		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	206					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						TCAGCGCCGACGGCCACACCA	0.652000													9	60					0	0	1	0	0
WDTC1	23038	broad.mit.edu	37	1	27630137	27630137	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:27630137C>T	ENST00000319394.3	+	14	2029	c.1494C>T	c.(1492-1494)ggC>ggT	p.G498G	WDTC1_ENST00000361771.3_Silent_p.G497G	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	498							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CTGGTGGCGGCGCCCCAGTCC	0.592000													25	61					0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133949508	133949508	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:133949508C>T	ENST00000298622.4	+	5	1182	c.1044C>T	c.(1042-1044)aaC>aaT	p.N348N		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GTCGGAAGAACGAGGATTTGT	0.493000													14	25					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245861488	245861488	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:245861488G>A	ENST00000366518.4	+	10	4866	c.4762G>A	c.(4762-4764)Gtc>Atc	p.V1588I	KIF26B_ENST00000407071.2_Missense_Mutation_p.V1969I			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1969					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAGCACAGGCGTCCGCTGGGT	0.602000													15	39					0	0	1	0	0
TTF1	7270	broad.mit.edu	37	9	135275597	135275597	+	Silent	SNP	G	G	A	rs144643349	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:135275597G>A	ENST00000334270.2	-	3	1455	c.1416C>T	c.(1414-1416)tcC>tcT	p.S472S		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	472					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ATCTTATTTCGGAATCTTCAG	0.413000													17	58					0	0	1	0	0
EVA1A	84141	broad.mit.edu	37	2	75745250	75745250	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:75745250C>T	ENST00000233712.1	-	3	454	c.17G>A	c.(16-18)aGc>aAc	p.S6N	EVA1A_ENST00000393913.3_Missense_Mutation_p.S6N|EVA1A_ENST00000410071.1_Missense_Mutation_p.S6N|EVA1A_ENST00000410113.1_Missense_Mutation_p.S6N|EVA1A_ENST00000490746.1_5'UTR	NM_032181.2	NP_115557.1			eva-1 homolog A (C. elegans)																		TGGGCTGTGGCTGAGGGGCAG	0.567000													11	52					0	0	1	0	0
SLC26A6	65010	broad.mit.edu	37	3	48670955	48670955	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:48670955C>T	ENST00000358747.6	-	1	324	c.74G>A	c.(73-75)cGc>cAc	p.R25H	SLC26A6_ENST00000420764.2_Missense_Mutation_p.R46H|SLC26A6_ENST00000337000.8_Missense_Mutation_p.R46H|SLC26A6_ENST00000395550.2_Missense_Mutation_p.R46H|SLC26A6_ENST00000455886.2_Missense_Mutation_p.R46H|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000383733.3_Missense_Mutation_p.R46H	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		TGAGCCCCAGCGCCCCAGCTC	0.652000													43	98					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72211430	72211430	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:72211430G>A	ENST00000340726.3	-	9	1317	c.678C>T	c.(676-678)taC>taT	p.Y226Y	EYA1_ENST00000388743.2_Silent_p.Y225Y|EYA1_ENST00000303824.7_Silent_p.Y220Y|EYA1_ENST00000388740.3_Silent_p.Y193Y|EYA1_ENST00000419131.1_Silent_p.Y221Y|EYA1_ENST00000388742.4_Silent_p.Y226Y|EYA1_ENST00000388741.2_Silent_p.Y192Y	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	226					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AATACTGTGCGTACTGACCCT	0.453000													36	98					0	0	1	0	0
TUBA3E	112714	broad.mit.edu	37	2	130949671	130949671	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:130949671C>T	ENST00000312988.7	-	5	1186	c.1086G>A	c.(1084-1086)gtG>gtA	p.V362V		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	362					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CCCCGGGGACCACTGTGGGGG	0.592000													30	73					0	0	1	0	0
EVX1	2128	broad.mit.edu	37	7	27285737	27285737	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:27285737C>T	ENST00000496902.4	+	3	1403	c.917C>T	c.(916-918)cCg>cTg	p.P306L	EVX1_ENST00000535619.1_Missense_Mutation_p.P124L|EVX1_ENST00000222761.3_3'UTR|EVX1-AS_ENST00000517726.1_RNA			P49640	EVX1_HUMAN	even-skipped homeobox 1	306						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						TCGCTGCGCCCGCTCGACACG	0.761000													5	16					0	0	1	0	0
HRASLS	57110	broad.mit.edu	37	3	192973512	192973512	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:192973512C>T	ENST00000264735.2	+	2	482	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	HRASLS_ENST00000602513.1_Missense_Mutation_p.R25C	NM_020386.4	NP_065119.2	Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	25										breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		CGAAGTGTTCCGTCCTGGCTA	0.488000													60	132					0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41608016	41608016	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:41608016C>T	ENST00000313860.7	+	6	535	c.481C>T	c.(481-483)Cga>Tga	p.R161*	LIMCH1_ENST00000512820.1_Nonsense_Mutation_p.R161*|LIMCH1_ENST00000512632.1_Nonsense_Mutation_p.R161*|LIMCH1_ENST00000512946.1_Nonsense_Mutation_p.R161*|LIMCH1_ENST00000508501.1_Nonsense_Mutation_p.R161*|LIMCH1_ENST00000513024.1_Nonsense_Mutation_p.R2*|LIMCH1_ENST00000511496.1_Nonsense_Mutation_p.R2*|LIMCH1_ENST00000509638.1_Nonsense_Mutation_p.R2*|LIMCH1_ENST00000503057.1_Nonsense_Mutation_p.R2*	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	161					actomyosin structure organization		actin binding|zinc ion binding	p.R2*(1)|p.R161*(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GGCTCAGATGCGAAAGGTAAC	0.428000													18	37					0	0	1	0	0
MRPL2	51069	broad.mit.edu	37	6	43024050	43024050	+	Silent	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:43024050G>T	ENST00000388752.3	-	3	823	c.399C>A	c.(397-399)ccC>ccA	p.P133P	MRPL2_ENST00000230413.5_Silent_p.P133P|MRPL2_ENST00000489623.1_Intron	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	133					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		CTTGCCTACAGGGATCATAGC	0.493000													20	62					0.00121646	0.00123356	1	1	0
MAGI3	260425	broad.mit.edu	37	1	114226149	114226149	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:114226149C>T	ENST00000307546.9	+	21	4034	c.3959C>T	c.(3958-3960)aCg>aTg	p.T1320M	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1345					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCAGGCTATACGGGCAGTAAT	0.438000													35	88					0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97464908	97464908	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:97464908G>A	ENST00000377075.2	+	4	1894	c.1796G>A	c.(1795-1797)cGc>cAc	p.R599H	CNNM4_ENST00000540067.1_Missense_Mutation_p.R86H|CNNM4_ENST00000496186.1_3'UTR	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	599					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TACTACGCCCGCCATTACCTG	0.567000													47	62					0	0	1	0	0
TUFT1	7286	broad.mit.edu	37	1	151553473	151553473	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:151553473G>A	ENST00000368849.3	+	12	1126	c.1064G>A	c.(1063-1065)gGc>gAc	p.G355D	TUFT1_ENST00000538902.1_Missense_Mutation_p.G374D|TUFT1_ENST00000353024.3_Missense_Mutation_p.G296D|TUFT1_ENST00000392712.3_Missense_Mutation_p.G300D|TUFT1_ENST00000368848.2_Missense_Mutation_p.G330D	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	355					bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATCAGTCATGGCAACTTCAGC	0.527000													26	48					0	0	1	0	0
PCDHB5	0	broad.mit.edu	37	5	140516576	140516576	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140516576C>T	ENST00000231134.5	+	1	1777	c.1560C>T	c.(1558-1560)taC>taT	p.Y520Y		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		520	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.Y520Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGGACTACGAGGCCCTGC	0.701000													11	190					0	0	1	0	0
MOSPD3	64598	broad.mit.edu	37	7	100212599	100212599	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:100212599G>A	ENST00000393950.2	+	4	903	c.621G>A	c.(619-621)ctG>ctA	p.L207L	MOSPD3_ENST00000223054.4_Silent_p.L207L|MOSPD3_ENST00000379527.2_Silent_p.L207L|MOSPD3_ENST00000424091.2_Silent_p.L197L	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	207						integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCAGCCAGCTGCCTCAAGTCC	0.617000													6	213					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21156620	21156620	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:21156620G>A	ENST00000261383.3	-	3	329	c.330C>T	c.(328-330)atC>atT	p.I110I	DNAH3_ENST00000575491.1_5'UTR|DNAH3_ENST00000415178.1_Silent_p.I110I	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	110	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGTTGTTGGCGATGGAATCAC	0.557000													3	46					0	0	1	0	0
DTNB	1838	broad.mit.edu	37	2	25611102	25611102	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:25611102G>A	ENST00000406818.3	-	17	1953	c.1704C>T	c.(1702-1704)gtC>gtT	p.V568V	DTNB_ENST00000545439.1_Silent_p.V357V|DTNB_ENST00000496972.2_Silent_p.V504V|DTNB_ENST00000407661.3_Silent_p.V568V|DTNB_ENST00000407038.3_Silent_p.V538V|DTNB_ENST00000288642.8_Silent_p.V568V|DTNB_ENST00000404103.3_Silent_p.V568V|DTNB_ENST00000407186.1_Silent_p.V531V|DTNB_ENST00000405222.1_Silent_p.V531V	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	568						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTCTCCCCCGACTCCGCTCA	0.652000													8	19					0	0	1	0	0
TRAV3	0	broad.mit.edu	37	14	22192114	22192114	+	RNA	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:22192114C>T	ENST00000390425.2	+	0	155																											CAATCCCGCCCGCCGTGAGCT	0.587000													55	115					0	0	1	0	0
NFS1	9054	broad.mit.edu	37	20	34262435	34262435	+	Splice_Site	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:34262435G>A	ENST00000374092.4	-	9	1123	c.1054_splice	c.e9+1	p.P351_splice	NFS1_ENST00000374085.1_Splice_Site_p.P291_splice|NFS1_ENST00000397425.1_Splice_Site_p.P291_splice|NFS1_ENST00000541387.1_Splice_Site_p.P300_splice|NFS1_ENST00000540053.1_Splice_Site_p.P149_splice	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	351					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	AGTCCATACCGGGATAATGGT	0.468000													22	73					0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19389112	19389112	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:19389112C>T	ENST00000338883.4	-	24	3364	c.3365G>A	c.(3364-3366)cGa>cAa	p.R1122Q	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.R954Q|MAP3K15_ENST00000359173.3_Missense_Mutation_p.R557Q	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1122							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CTGCACCGCTCGGCGGATGAT	0.438000													6	59					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69002947	69002947	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:69002947G>A	ENST00000288368.4	+	20	2524	c.2247G>A	c.(2245-2247)acG>acA	p.T749T	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	749	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.T749T(2)|p.K750*(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGCGGCCAACGAAGGTAAGTG	0.473000													19	43					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40849591	40849591	+	Silent	SNP	G	G	A	rs142952244	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:40849591G>A	ENST00000264638.4	+	22	3805	c.3588G>A	c.(3586-3588)ccG>ccA	p.P1196P	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1196	Laminin G-like 4.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TCATTGACCCGGAGATCCAGC	0.577000													28	74					0	0	1	0	0
TSPAN11	441631	broad.mit.edu	37	12	31135554	31135554	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:31135554G>A	ENST00000261177.9	+	6	603	c.544G>A	c.(544-546)Gac>Aac	p.D182N	TSPAN11_ENST00000546076.1_Missense_Mutation_p.D182N|TSPAN11_ENST00000535215.1_Missense_Mutation_p.D111N|TSPAN11_ENST00000544427.1_Missense_Mutation_p.D172N	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	182						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CCAGGTGCCCGACAGCTGCTG	0.637000													7	23					0	0	1	0	0
C7orf26	79034	broad.mit.edu	37	7	6639708	6639708	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:6639708G>A	ENST00000344417.5	+	4	1096	c.829G>A	c.(829-831)Gtg>Atg	p.V277M	C7orf26_ENST00000472693.1_3'UTR|C7orf26_ENST00000359073.5_Intron	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	277										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		GGACCCGGGCGTGGGGATGGA	0.552000													12	48					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26463097	26463097	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:26463097G>T	ENST00000265944.5	+	30	4070	c.3904G>T	c.(3904-3906)Gaa>Taa	p.E1302*	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1302					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAACAGCATGGAAAAAGAAAA	0.448000													22	92					1.22574e-08	1.26671e-08	1	1	0
TRIM48	79097	broad.mit.edu	37	11	55036727	55036727	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:55036727C>T	ENST00000417545.2	+	5	674	c.588C>T	c.(586-588)tcC>tcT	p.S196S		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	180						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GGAGTGAGTCCGTGCTGCTGC	0.468000													16	40					0	0	1	0	0
GCAT	23464	broad.mit.edu	37	22	38211829	38211829	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:38211829C>T	ENST00000323205.6	+	7	1115	c.1052C>T	c.(1051-1053)gCc>gTc	p.A351V	GCAT_ENST00000248924.6_Missense_Mutation_p.A325V	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	325					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TCTATGGCTGCCAAGACCCAG	0.617000													37	135					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76756938	76756938	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:76756938C>T	ENST00000536229.3	+	3	3613	c.2904C>T	c.(2902-2904)ggC>ggT	p.G968G	SALL3_ENST00000575389.2_Silent_p.G1101G|SALL3_ENST00000537592.2_Silent_p.G1173G			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGAGACGCGGCCGCCGCCTGT	0.612000													11	37					0	0	1	0	0
CD81	975	broad.mit.edu	37	11	2416745	2416745	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:2416745G>A	ENST00000263645.5	+	5	710	c.454G>A	c.(454-456)Gag>Aag	p.E152K	CD81_ENST00000381036.3_Missense_Mutation_p.E190K|CD81_ENST00000526072.1_Missense_Mutation_p.E81K|CD81_ENST00000481687.1_Missense_Mutation_p.E158K|CD81_ENST00000492627.1_Missense_Mutation_p.E81K|CD81_ENST00000524805.1_3'UTR	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	152					activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		GACCTTCCACGAGACGGTGCG	0.657000													19	50					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49432374	49432374	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:49432374C>T	ENST00000301067.7	-	34	8764	c.8765G>A	c.(8764-8766)cGg>cAg	p.R2922Q		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.R2922Q(1)|p.R2652Q(1)									CGCCAGGCCCCGAAGCCCTTC	0.617000													5	97					0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99132912	99132912	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:99132912G>A	ENST00000370992.4	-	18	2183	c.2072C>T	c.(2071-2073)cCg>cTg	p.P691L	RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Missense_Mutation_p.P630L|RRP12_ENST00000536831.1_Missense_Mutation_p.P409L|RRP12_ENST00000315563.6_Missense_Mutation_p.P591L	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	691						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GAAGAGGATCGGCAGAAAGTT	0.557000													13	48					0	0	1	0	0
SDC3	9672	broad.mit.edu	37	1	31347383	31347383	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:31347383G>A	ENST00000336798.7	-	2	2241	c.749C>T	c.(748-750)cCg>cTg	p.P250L	SDC3_ENST00000339394.6_Missense_Mutation_p.P308L			O75056	SDC3_HUMAN	syndecan 3	308	Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		CCCACTCACCGGAACCTCTGG	0.602000													40	101					0	0	1	0	0
MUT	4594	broad.mit.edu	37	6	49425735	49425735	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:49425735G>A	ENST00000274813.3	-	3	549	c.422C>T	c.(421-423)gCg>gTg	p.A141V		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	141					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACGATGTGTCGCCAGATCAAA	0.388000													22	39					0	0	1	0	0
SPATS2L	26010	broad.mit.edu	37	2	201324531	201324531	+	Silent	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:201324531T>C	ENST00000409988.3	+	9	1351	c.828T>C	c.(826-828)gaT>gaC	p.D276D	SPATS2L_ENST00000409385.1_Silent_p.D216D|SPATS2L_ENST00000409140.3_Silent_p.D276D|SPATS2L_ENST00000409151.1_Silent_p.D284D|SPATS2L_ENST00000451764.2_Silent_p.D276D|SPATS2L_ENST00000360760.5_Silent_p.D207D|SPATS2L_ENST00000409755.3_Silent_p.D306D|SPATS2L_ENST00000358677.4_Silent_p.D276D|SPATS2L_ENST00000409718.1_Silent_p.D276D	NM_001100422.1	NP_001093892.1	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	276						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						CAGAAATGGATAAAGTTAAAG	0.343000													4	18					0	0	1	0	0
ACADSB	36	broad.mit.edu	37	10	124810572	124810572	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:124810572A>G	ENST00000358776.4	+	9	1012	c.998A>G	c.(997-999)cAa>cGa	p.Q333R	ACADSB_ENST00000368869.4_Missense_Mutation_p.Q231R	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	333					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	CAGGGCCTCCAACACCAAGTG	0.453000													4	17					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38197158	38197158	+	Missense_Mutation	SNP	G	G	A	rs145892280	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:38197158G>A	ENST00000373048.4	-	7	1587	c.1588C>T	c.(1588-1590)Cgg>Tgg	p.R530W	EPHA10_ENST00000540011.1_Missense_Mutation_p.R25W|EPHA10_ENST00000330210.7_Missense_Mutation_p.R25W|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.R530W	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	530	Fibronectin type-III 2.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAAGCGGCCCGGATCTGAAAG	0.602000													4	173					0	0	1	0	0
SPINT1	6692	broad.mit.edu	37	15	41145959	41145959	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:41145959C>T	ENST00000344051.4	+	5	1027	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	SPINT1_ENST00000431806.1_Missense_Mutation_p.R265C|SPINT1_ENST00000562057.1_Missense_Mutation_p.R265C			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	265	BPTI/Kunitz inhibitor 1.					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CTCTTTCCCACGCTGGTACTA	0.577000													12	171					0	0	1	0	0
ITM2C	81618	broad.mit.edu	37	2	231742222	231742222	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:231742222C>T	ENST00000326427.6	+	5	795	c.669C>T	c.(667-669)aaC>aaT	p.N223N	ITM2C_ENST00000335005.6_Silent_p.N176N|ITM2C_ENST00000409704.2_Silent_p.N161N|ITM2C_ENST00000326407.6_Silent_p.N186N	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	223	BRICHOS.				negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		ACCTGTGCAACGGGAAAGACA	0.627000													30	85					0	0	1	0	0
HIC1	3090	broad.mit.edu	37	17	1961767	1961767	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:1961767G>A	ENST00000399849.2	+	2	1943	c.1783G>A	c.(1783-1785)Gcc>Acc	p.A595T	HIC1_ENST00000322941.3_Missense_Mutation_p.A614T	NM_006497.3	NP_006488.2	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	614					multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		GAAGATGCACGCCGTgggggg	0.726000													5	18					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96495025	96495025	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:96495025C>T	ENST00000285979.6	+	9	1496	c.1297C>T	c.(1297-1299)Cgg>Tgg	p.R433W	CYP2C18_ENST00000339022.5_Missense_Mutation_p.R374W|CYP2C19_ENST00000464755.1_Intron	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TTCAGGAAAACGGATGTGTAT	0.403000													18	76					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129275464	129275464	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:129275464G>A	ENST00000324093.4	-	35	5835	c.5657C>T	c.(5656-5658)cCg>cTg	p.P1886L	PLXND1_ENST00000504689.1_Missense_Mutation_p.P42L|PLXND1_ENST00000393239.1_3'UTR	NM_015103.2	NP_055918.2	Q9Y4D7	PLXD1_HUMAN	plexin D1	1886					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						ACTCACCTGCGGCCGATACCT	0.542000													7	22					0	0	1	0	0
CTSD	1509	broad.mit.edu	37	11	1780295	1780295	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:1780295G>A	ENST00000236671.2	-	4	507	c.375C>T	c.(373-375)agC>agT	p.S125S		NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	125					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGGACTTGTCGCTGTTGTACT	0.627000													79	180					0	0	1	0	0
A4GALT	53947	broad.mit.edu	37	22	43089741	43089741	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:43089741C>T	ENST00000401850.1	-	2	706	c.217G>A	c.(217-219)Ggc>Agc	p.G73S	A4GALT_ENST00000249005.2_Missense_Mutation_p.G73S|A4GALT_ENST00000381278.3_Missense_Mutation_p.G73S			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	73					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						GGAGTGGGGCCGTGGGAGGGT	0.622000													14	44					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129903178	129903178	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:129903178T>C	ENST00000368654.3	-	13	7301	c.6926A>G	c.(6925-6927)aAg>aGg	p.K2309R	MKI67_ENST00000368653.3_Missense_Mutation_p.K1949R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2309	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGCCTGGGCCTTTTCCTTAGG	0.488000													4	347					0	0	1	0	0
LCA5	167691	broad.mit.edu	37	6	80223398	80223398	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:80223398C>T	ENST00000392959.1	-	4	862	c.251G>A	c.(250-252)cGc>cAc	p.R84H	LCA5_ENST00000369846.4_Missense_Mutation_p.R84H|LCA5_ENST00000467898.2_Missense_Mutation_p.R84H	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	84					protein transport	cilium axoneme|microtubule basal body	protein binding	p.R84H(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GCTCTGGGAGCGAAATCCCAC	0.438000													73	210					0	0	1	0	0
GGTLC1	92086	broad.mit.edu	37	20	23966372	23966372	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:23966372C>T	ENST00000335694.4	-	5	667	c.463G>A	c.(463-465)Gtg>Atg	p.V155M	GGTLC1_ENST00000286890.4_Missense_Mutation_p.V155M|GGTLC1_ENST00000278765.4_Missense_Mutation_p.V155M	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	155							gamma-glutamyltransferase activity	p.V155M(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GGCTCCTCCACGGCCCACTTC	0.612000													17	167					0	0	1	0	0
LRRC25	126364	broad.mit.edu	37	19	18507627	18507627	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:18507627G>A	ENST00000339007.3	-	1	800	c.147C>T	c.(145-147)agC>agT	p.S49S	LRRC25_ENST00000595840.1_Silent_p.S49S	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	49						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						GCAGGCTCAGGCTGAGGCCAC	0.607000													14	38					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124053260	124053260	+	Missense_Mutation	SNP	G	G	A	rs35057827		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:124053260G>A	ENST00000360013.3	+	9	1686	c.1559G>A	c.(1558-1560)cGg>cAg	p.R520Q	KALRN_ENST00000460856.1_Missense_Mutation_p.R520Q|KALRN_ENST00000240874.3_Missense_Mutation_p.R520Q	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	520					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CACCAGCGACGGCTGGAGAGC	0.622000													31	81					0	0	1	0	0
NELFA	7469	broad.mit.edu	37	4	1991465	1991465	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:1991465C>T	ENST00000382882.3	-	3	1664	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	NELFA_ENST00000542778.1_Missense_Mutation_p.A37T|NELFA_ENST00000411638.1_Missense_Mutation_p.A172T	NM_005663.4	NP_005654.3			negative elongation factor complex member A									p.A172T(1)									CGCAGCGTGGCGCTCTTGGGT	0.572000													78	240					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45786686	45786686	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:45786686T>C	ENST00000397928.1	+	4	918	c.473T>C	c.(472-474)aTg>aCg	p.M158T	TRPM2_ENST00000300481.9_Missense_Mutation_p.M158T|TRPM2_ENST00000300482.5_Missense_Mutation_p.M158T|TRPM2_ENST00000397932.2_Missense_Mutation_p.M158T	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	158						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TACCACCTCATGACCCAGCAC	0.607000													4	92					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100137845	100137845	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:100137845G>A	ENST00000375202.2	+	50	6300	c.4948G>A	c.(4948-4950)Gtg>Atg	p.V1650M	CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.V1595M|CCDC180_ENST00000529487.1_Missense_Mutation_p.V1650M					coiled-coil domain containing 180																		CCTGGCGGCCGTGGAAGCCCG	0.597000													20	58					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179481223	179481223	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179481223G>A	ENST00000589042.1	-	257	48519	c.48295C>T	c.(48295-48297)Cgg>Tgg	p.R16099W	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R7159W|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R7226W|TTN_ENST00000342992.6_Missense_Mutation_p.R13531W|TTN_ENST00000460472.2_Missense_Mutation_p.R7034W|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R14458W	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14458	Ig-like 99.						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)			CATGTTTTCCGGCTGACTTCT	0.433000													5	149					0	0	1	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114083366	114083366	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:114083366C>T	ENST00000356501.4	-	4	476	c.301G>A	c.(301-303)Gcc>Acc	p.A101T	ADPRHL1_ENST00000375418.3_Missense_Mutation_p.A183T	NM_199162.1	NP_954631.1	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	183					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CCTTGTGCGGCGAACGACACA	0.667000													3	28					0	0	1	0	0
FTMT	94033	broad.mit.edu	37	5	121188336	121188336	+	Silent	SNP	G	G	A	rs148052592		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:121188336G>A	ENST00000321339.1	+	1	687	c.678G>A	c.(676-678)gcG>gcA	p.A226A		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	226					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CTGGCCTGGCGGAGTACCTTT	0.502000													45	140					0	0	1	0	0
AREL1	9870	broad.mit.edu	37	14	75143386	75143386	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:75143386G>A	ENST00000356357.4	-	6	1066	c.551C>T	c.(550-552)cCg>cTg	p.P184L	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1																		AAGGGTGTGCGGCTGCCCACA	0.428000													16	70					0	0	1	0	0
OPA1	4976	broad.mit.edu	37	3	193377284	193377284	+	Silent	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:193377284T>C	ENST00000361510.2	+	25	2688	c.2454T>C	c.(2452-2454)atT>atC	p.I818I	OPA1_ENST00000361908.3_Silent_p.I800I|OPA1_ENST00000361150.2_Silent_p.I764I|OPA1_ENST00000392438.3_Silent_p.I763I|OPA1_ENST00000361828.2_Silent_p.I781I|OPA1_ENST00000361715.2_Silent_p.I782I	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	763					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AAAATGCAATTGAAAACATGG	0.318000													5	11					0	0	1	0	0
RDH12	145226	broad.mit.edu	37	14	68191299	68191299	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:68191299G>A	ENST00000551171.1	+	4	502	c.178G>A	c.(178-180)Gct>Act	p.A60T	RDH12_ENST00000267502.3_Missense_Mutation_p.A60T|RDH12_ENST00000539142.1_Missense_Mutation_p.A60T	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	60					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	CAGAGAGCTCGCTAGCCGAGG	0.557000													19	61					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151860463	151860463	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:151860463C>T	ENST00000355193.2	-	43	10417	c.10199G>A	c.(10198-10200)cGt>cAt	p.R3400H	KMT2C_ENST00000262189.6_Missense_Mutation_p.R3400H					lysine (K)-specific methyltransferase 2C																		ACGTTCCTTACGTTCCCGTTC	0.468000													5	243					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1268946	1268946	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:1268946C>T	ENST00000447027.1	+	31	10903	c.10845C>T	c.(10843-10845)ccC>ccT	p.P3615P	MUC5B_ENST00000529681.1_Silent_p.P3612P|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3612	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGAGCAGCCCCTGGGCCTCG	0.677000													5	149					0	0	1	0	0
C2orf44	80304	broad.mit.edu	37	2	24262246	24262246	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:24262246C>T	ENST00000295148.4	-	2	176	c.119G>A	c.(118-120)cGg>cAg	p.R40Q	C2orf44_ENST00000406895.3_Missense_Mutation_p.R40Q	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	40							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGTGAAGCCGCAAATCAGT	0.507000			T	ALK	NSCLC								16	62					0	0	1	0	0
FAM196A	642938	broad.mit.edu	37	10	128973691	128973691	+	Silent	SNP	C	C	T	rs139302074	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:128973691C>T	ENST00000522781.1	-	4	1524	c.969G>A	c.(967-969)tcG>tcA	p.S323S	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.S323S	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	323										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGTGAGTCTGCGACGGCTGCT	0.642000													53	130					0	0	1	0	0
ZNF366	0	broad.mit.edu	37	5	71756273	71756273	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:71756273C>T	ENST00000318442.5	-	2	1541	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GCCTTGAGCTCGCTGGGGTAG	0.647000													11	43					0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8132064	8132064	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:8132064C>A	ENST00000315684.8	-	21	3375	c.3368G>T	c.(3367-3369)gGg>gTg	p.G1123V		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	1123					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GGCTCCAGGCCCTGCAAACTG	0.552000													19	32					3.62473e-10	3.76027e-10	1	1	0
PTPRD	5789	broad.mit.edu	37	9	8524957	8524957	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:8524957C>T	ENST00000381196.4	-	15	1190	c.647G>A	c.(646-648)cGc>cAc	p.R216H	PTPRD_ENST00000356435.5_Missense_Mutation_p.R216H|PTPRD_ENST00000358503.5_Missense_Mutation_p.R207H|PTPRD_ENST00000355233.5_Missense_Mutation_p.R216H|PTPRD_ENST00000397606.3_Missense_Mutation_p.R210H|PTPRD_ENST00000397611.3_Missense_Mutation_p.R213H|PTPRD_ENST00000540109.1_Missense_Mutation_p.R216H|PTPRD_ENST00000397617.3_Missense_Mutation_p.R210H|PTPRD_ENST00000360074.4_Missense_Mutation_p.R207H|PTPRD_ENST00000537002.1_Missense_Mutation_p.R213H|PTPRD_ENST00000486161.1_Missense_Mutation_p.R216H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	216	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		agcggaatagcGAGTGCCCGC	0.488000										TSP Lung(15;0.13)			8	170					0	0	1	0	0
THOP1	7064	broad.mit.edu	37	19	2806990	2806990	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:2806990G>A	ENST00000307741.6	+	7	1029	c.826G>A	c.(826-828)Gcc>Acc	p.A276T	THOP1_ENST00000591149.1_3'UTR|THOP1_ENST00000586677.1_Missense_Mutation_p.A155T	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	276					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACACGCACGCCGACTATGT	0.627000													6	49					0	0	1	0	0
UVSSA	57654	broad.mit.edu	37	4	1347003	1347003	+	Missense_Mutation	SNP	C	C	T	rs144329202	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:1347003C>T	ENST00000389851.4	+	5	1183	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	UVSSA_ENST00000507531.1_Missense_Mutation_p.R246W|UVSSA_ENST00000511216.1_Missense_Mutation_p.R246W	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	246																	CCCTGACCCCCGGGACGGGGA	0.706000													23	41					0	0	1	0	0
WNT3A	89780	broad.mit.edu	37	1	228210434	228210434	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:228210434G>A	ENST00000284523.1	+	2	216	c.138G>A	c.(136-138)ccG>ccA	p.P46P	WNT3A_ENST00000366753.2_Silent_p.P46P	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	46					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CCAGCATCCCGGGCCTGGTCC	0.642000													29	63					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121216025	121216025	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:121216025G>A	ENST00000297848.3	+	9	1225	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	COL14A1_ENST00000309791.4_Missense_Mutation_p.E319K|COL14A1_ENST00000537875.1_Missense_Mutation_p.E319K|COL14A1_ENST00000247781.3_Missense_Mutation_p.E224K|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	319	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAATGTTGCCGAATTCGATCT	0.468000													16	43					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11067934	11067934	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:11067934G>A	ENST00000287766.4	+	10	1388	c.967G>A	c.(967-969)Gtc>Atc	p.V323I	SLC6A1_ENST00000536032.1_Missense_Mutation_p.V145I	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	323					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CTCCATCATCGTCTGCTGCAT	0.582000													54	137					0	0	1	0	0
PNCK	139728	broad.mit.edu	37	X	152937471	152937471	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:152937471A>G	ENST00000393831.2	-	5	712	c.278T>C	c.(277-279)gTg>gCg	p.V93A	PNCK_ENST00000447676.2_Missense_Mutation_p.V176A|PNCK_ENST00000370142.1_Missense_Mutation_p.V93A|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000340888.3_Missense_Mutation_p.V93A|PNCK_ENST00000370145.4_Missense_Mutation_p.V110A|PNCK_ENST00000370150.1_Missense_Mutation_p.V93A	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	93	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCACCCGTCACCCTGGGGGT	0.667000													3	26					0	0	1	0	0
FAM129B	64855	broad.mit.edu	37	9	130293932	130293932	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:130293932G>A	ENST00000373312.3	-	2	394	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.R48C	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	61							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CTCACCTTGCGCCAGAGCAGC	0.592000													36	72					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82583452	82583452	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:82583452T>C	ENST00000423517.2	-	5	7154	c.6817A>G	c.(6817-6819)Atc>Gtc	p.I2273V	PCLO_ENST00000333891.8_Missense_Mutation_p.I2273V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2204					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GATTCTATGATAGAAGATGCC	0.403000													7	116					0	0	1	0	0
PQLC3	130814	broad.mit.edu	37	2	11317936	11317936	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:11317936C>T	ENST00000295083.3	+	7	766	c.591C>T	c.(589-591)acC>acT	p.T197T	PQLC3_ENST00000441908.2_Silent_p.T183T|PQLC3_ENST00000402361.1_3'UTR	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3	197						integral to membrane				kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		ACCGGAAGACCGCTATAAAGG	0.348000													5	45					0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204588019	204588019	+	Missense_Mutation	SNP	C	C	T	rs149220897		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:204588019C>T	ENST00000367175.1	-	1	3314	c.1102G>A	c.(1102-1104)Ggc>Agc	p.G368S	LRRN2_ENST00000367176.3_Missense_Mutation_p.G368S|LRRN2_ENST00000367177.3_Missense_Mutation_p.G368S			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	368					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ATGGGGTTGCCGTGGAGACCT	0.637000													27	65					0	0	1	0	0
WNT6	7475	broad.mit.edu	37	2	219736335	219736335	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:219736335C>T	ENST00000233948.3	+	3	647	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	WNT6_ENST00000486233.1_3'UTR	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	144					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ggcccctccccggccctccgg	0.796000													4	14					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130289058	130289058	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:130289058C>T	ENST00000257359.6	-	2	1556	c.850G>A	c.(850-852)Gac>Aac	p.D284N		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	284	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCCCCATTGTCGGACACCTCT	0.552000													76	202					0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99690698	99690698	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:99690698G>A	ENST00000303887.5	-	15	2662	c.2017C>T	c.(2017-2019)Cga>Tga	p.R673*	MCM7_ENST00000343023.6_Nonsense_Mutation_p.R343*|MCM7_ENST00000354230.3_Nonsense_Mutation_p.R497*	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	673	Interaction with ATRIP.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CGGACACTTCGGCCCCCTGAG	0.547000													11	38					0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47360137	47360137	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:47360137C>T	ENST00000545968.1	-	23	2296	c.2242G>A	c.(2242-2244)Gtc>Atc	p.V748I	MYBPC3_ENST00000399249.2_Missense_Mutation_p.V748I|MYBPC3_ENST00000256993.4_Missense_Mutation_p.V747I	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	747	Ig-like C2-type 5.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		ACCGTGTAGACGCCCTCATCT	0.637000													13	45					0	0	1	0	0
NNMT	4837	broad.mit.edu	37	11	114183174	114183174	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:114183174C>T	ENST00000535401.1	+	5	1034	c.770C>T	c.(769-771)gCg>gTg	p.A257V	RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000299964.3_Missense_Mutation_p.A257V|NNMT_ENST00000542647.1_Missense_Mutation_p.A62V|NNMT_ENST00000545255.1_Missense_Mutation_p.A62V|NNMT_ENST00000541754.1_Missense_Mutation_p.A62V			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	257					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	TCCCTGGTGGCGAGGAAGCTG	0.483000													14	106					0	0	1	0	0
PCDHA9	0	broad.mit.edu	37	5	140229397	140229397	+	Silent	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140229397C>A	ENST00000378122.3	+	1	2041	c.1317C>A	c.(1315-1317)gcC>gcA	p.A439A	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.A439A|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCCACGGCCAGGGTGTCTG	0.667000													61	146					3.28156e-27	3.4573e-27	1	1	0
ZFHX3	463	broad.mit.edu	37	16	72829831	72829831	+	Silent	SNP	C	C	T	rs139895950	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:72829831C>T	ENST00000268489.5	-	9	7422	c.6750G>A	c.(6748-6750)acG>acA	p.T2250T	ZFHX3_ENST00000397992.5_Silent_p.T1336T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2250					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)				GCTGGTAGTCCGTAAACCTTG	0.512000													40	95					0	0	1	0	0
UCMA	221044	broad.mit.edu	37	10	13264116	13264116	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:13264116C>T	ENST00000378681.3	-	5	476	c.404G>A	c.(403-405)cGc>cAc	p.R135H	UCMA_ENST00000463405.2_Missense_Mutation_p.R113H	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	135						proteinaceous extracellular matrix				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						GGTGTGGTGGCGGTTGTAGAG	0.587000													15	45					0	0	1	0	0
VTI1A	143187	broad.mit.edu	37	10	114428700	114428700	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:114428700G>A	ENST00000393077.2	+	7	619	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	VTI1A_ENST00000432306.1_Missense_Mutation_p.R168Q	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	168					intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		TTGTAGCTTCGGGAAACAGAT	0.373000			T	TCF7L2	colorectal								8	118					0	0	1	0	0
VAMP5	10791	broad.mit.edu	37	2	85818986	85818986	+	Splice_Site	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:85818986G>A	ENST00000306384.4	+	2	224		c.e2+1			NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5						cell differentiation|vesicle-mediated transport	endomembrane system				NS(1)|large_intestine(3)|lung(1)	5						CCTGGATATGGTGTGAGGCCT	0.567000													5	158					0	0	1	0	0
JKAMP	51528	broad.mit.edu	37	14	59965595	59965595	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:59965595C>T	ENST00000554271.1	+	5	1177	c.651C>T	c.(649-651)acC>acT	p.T217T	JKAMP_ENST00000425728.2_Silent_p.T197T|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000356057.5_Silent_p.T211T|JKAMP_ENST00000261247.9_Silent_p.T203T			Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	218					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						CAATTTTAACCGTGCTTCAGG	0.358000													9	17					0	0	1	0	0
ZNF549	256051	broad.mit.edu	37	19	58048626	58048626	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:58048626C>T	ENST00000376233.3	+	4	435	c.254C>T	c.(253-255)gCg>gTg	p.A85V	ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.A72V|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	85	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTCTTTCTGCGCAAGGAGTG	0.453000													22	81					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37064774	37064774	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:37064774G>A	ENST00000282516.8	+	47	8694	c.8195G>A	c.(8194-8196)aGc>aAc	p.S2732N		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2732					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAGAAAACCAGCAGTGGCTTC	0.507000													59	123					0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4575245	4575245	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:4575245G>A	ENST00000301396.4	-	16	3698	c.3473C>T	c.(3472-3474)aCg>aTg	p.T1158M	PELP1_ENST00000269230.7_Missense_Mutation_p.T924M|PELP1_ENST00000574876.1_Missense_Mutation_p.T1014M|PELP1_ENST00000436683.2_Intron|PELP1_ENST00000572293.1_Missense_Mutation_p.T1064M			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	1014					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CTCCTCCTCCGTCCCTGGCTC	0.677000													3	21					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	607296	607296	+	Silent	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:607296C>A	ENST00000264555.5	+	14	1968	c.1840C>A	c.(1840-1842)Cgg>Agg	p.R614R	PHRF1_ENST00000413872.2_Silent_p.R612R|PHRF1_ENST00000416188.2_Silent_p.R613R|PHRF1_ENST00000533464.1_Silent_p.R610R	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	614							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GGTTCAGGCTCGGAACTTGTC	0.672000													5	143					0.000602214	0.000612978	1	1	0
DNAH2	146754	broad.mit.edu	37	17	7682662	7682662	+	Silent	SNP	C	C	T	rs144218986		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:7682662C>T	ENST00000572933.1	+	36	7103	c.5643C>T	c.(5641-5643)gcC>gcT	p.A1881A	DNAH2_ENST00000389173.2_Silent_p.A1881A			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1881	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCCTGGCTGCCGGCCTCACCC	0.532000													11	31					0	0	1	0	0
ACO2	50	broad.mit.edu	37	22	41895751	41895751	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:41895751T>C	ENST00000396512.3	+	2	75	c.58T>C	c.(58-60)Tac>Cac	p.Y20H	ACO2_ENST00000216254.4_Missense_Mutation_p.Y20H			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	20					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						TGTGCGGCAGTACCATGTGGC	0.527000													9	341					0	0	1	0	0
PCDHB12	0	broad.mit.edu	37	5	140589863	140589863	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140589863G>A	ENST00000239450.2	+	1	1573	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K	PCDHB12_ENST00000541609.1_Missense_Mutation_p.E125K	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		462	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCGTCCGCGAGAACAACAG	0.617000													12	201					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17698444	17698444	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:17698444T>C	ENST00000353383.1	+	3	2651	c.2182T>C	c.(2182-2184)Tgt>Cgt	p.C728R	RAI1_ENST00000261641.6_Missense_Mutation_p.C728R	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	728						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AGCTTTTGACTGTTTCCCGGA	0.597000													34	93					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149511934	149511934	+	RNA	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:149511934G>A	ENST00000378016.2	+	0	10484							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CACCGGAGCCGGGCGTGCAGC	0.677000													4	1					0	0	1	0	0
PES1	23481	broad.mit.edu	37	22	30977346	30977346	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:30977346G>A	ENST00000402281.1	-	10	1371	c.380C>T	c.(379-381)gCg>gTg	p.A127V	PES1_ENST00000405677.1_Missense_Mutation_p.A127V|PES1_ENST00000402284.3_Missense_Mutation_p.A249V|PES1_ENST00000335214.6_Missense_Mutation_p.A266V|PES1_ENST00000354694.6_Missense_Mutation_p.A266V			O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	266	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						GGAGTCCAACGCGTAGGTGCC	0.627000													12	27					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102305092	102305092	+	RNA	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:102305092A>G	ENST00000561463.1	+	0	13138																											CATGAACACCATCAGCACAGC	0.632000													3	34					0	0	1	0	0
HPS5	11234	broad.mit.edu	37	11	18332308	18332308	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:18332308T>A	ENST00000396253.3	-	4	577	c.115A>T	c.(115-117)Aat>Tat	p.N39Y	HPS5_ENST00000349215.3_Missense_Mutation_p.N153Y|HPS5_ENST00000531848.1_Missense_Mutation_p.N39Y|HPS5_ENST00000438420.2_Missense_Mutation_p.N39Y	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	153						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TTAGAAGTATTGAGTTTGATA	0.398000									Hermansky-Pudlak syndrome				22	50					0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104117887	104117887	+	Silent	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:104117887A>G	ENST00000361355.4	+	8	1537	c.921A>G	c.(919-921)gcA>gcG	p.A307A	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	307					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		CTGACAGAGCACTTGTCTTTG	0.413000													9	390					0	0	1	0	0
TFB2M	64216	broad.mit.edu	37	1	246711852	246711852	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:246711852G>A	ENST00000366514.4	-	6	1038	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C	TFB2M_ENST00000544618.1_3'UTR	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	285					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			CTTACCCTACGCTTTGGGTTT	0.348000													4	77					0	0	1	0	0
HDGFRP2	0	broad.mit.edu	37	19	4496343	4496343	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:4496343C>T	ENST00000301284.4	+	10	1333	c.1269C>T	c.(1267-1269)ccC>ccT	p.P423P	HDGFRP2_ENST00000586684.1_Silent_p.P423P	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		423					transcription, DNA-dependent	nucleus	DNA binding|protein binding										GCACAGAGCCCGCCAGGAAAC	0.627000													7	23					0	0	1	0	0
MCOLN2	255231	broad.mit.edu	37	1	85431281	85431281	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:85431281G>A	ENST00000370608.3	-	2	255	c.188C>T	c.(187-189)cCg>cTg	p.P63L	MCOLN2_ENST00000284027.5_Missense_Mutation_p.P35L|MCOLN2_ENST00000531325.1_5'UTR	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	63						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CAGTTTCCACGGAATCTGGCG	0.413000													19	35					0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116014686	116014686	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:116014686C>T	ENST00000603594.1	+	4	461	c.140C>T	c.(139-141)tCg>tTg	p.S47L	VWA2_ENST00000392982.3_Missense_Mutation_p.S47L	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	47						extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		ATGTGGTGCTCGGCTGCAGTG	0.527000													8	237					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70507841	70507841	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:70507841G>A	ENST00000449833.2	-	1	82	c.32C>T	c.(31-33)gCc>gTc	p.A11V	SHANK2_ENST00000423696.2_Intron|SHANK2_ENST00000449116.2_Missense_Mutation_p.A11V|SHANK2_ENST00000409161.1_Missense_Mutation_p.A10V|SHANK2_ENST00000357171.3_Missense_Mutation_p.A11V|SHANK2_ENST00000409530.1_Missense_Mutation_p.A10V|SHANK2_ENST00000338508.4_Intron	NM_133266.3	NP_573573.2	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	0					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CATCACCGCGGCCGCTCCTCC	0.557000													9	191					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16360535	16360535	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:16360535G>A	ENST00000354981.2	-	19	2269	c.2112C>T	c.(2110-2112)cgC>cgT	p.R704R	KIF16B_ENST00000408042.1_Silent_p.R704R|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Silent_p.R704R	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	704	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTTCTTGGACGCGGAGAAAGG	0.443000													10	105					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95188892	95188892	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:95188892C>T	ENST00000027335.3	-	5	425	c.301G>A	c.(301-303)Gct>Act	p.A101T	CDH17_ENST00000441892.2_Missense_Mutation_p.A101T|CDH17_ENST00000450165.2_Missense_Mutation_p.A101T	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	101	Cadherin 1.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			ATTCCATTAGCGTCCAGGGCT	0.453000													23	39					0	0	1	0	0
C17orf75	64149	broad.mit.edu	37	17	30666926	30666926	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:30666926C>T	ENST00000577809.1	-	3	302	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.E85K	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	85					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GGCTCCACTTCGGATGGTAGA	0.458000													4	74					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118199031	118199031	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:118199031C>T	ENST00000425217.1	-	4	738	c.684G>A	c.(682-684)gcG>gcA	p.A228A	KSR2_ENST00000339824.5_Silent_p.A257A	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	257	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGTGCGGACCGCGTGCCGCT	0.736000													63	148					0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54646863	54646863	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:54646863G>A	ENST00000406403.1	+	2	1637	c.34G>A	c.(34-36)Gat>Aat	p.D12N	CNOT3_ENST00000221232.5_Missense_Mutation_p.D12N|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	12					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	p.D12H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGGTGAGATTGATCGCTGCCT	0.537000													61	170					0	0	1	0	0
PGBD2	0	broad.mit.edu	37	1	249211136	249211136	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:249211136G>A	ENST00000539153.1	+	4	599	c.344G>A	c.(343-345)cGt>cAt	p.R115H	PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000329291.5_Missense_Mutation_p.R118H|PGBD2_ENST00000462488.1_Intron			Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	118										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGAGATATTCGTCCAGACTTT	0.493000													15	56					0	0	1	0	0
CCR8	1237	broad.mit.edu	37	3	39373861	39373861	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:39373861C>T	ENST00000326306.4	+	2	177	c.39C>T	c.(37-39)acC>acT	p.T13T	CCR8_ENST00000545843.1_5'UTR|CCR8_ENST00000414803.1_Silent_p.T13T	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	13					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		CAACAGTGACCGACTACTACT	0.438000													36	96					0	0	1	0	0
GMPS	8833	broad.mit.edu	37	3	155649577	155649577	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:155649577C>T	ENST00000496455.1	+	13	1919	c.1584C>T	c.(1582-1584)taC>taT	p.Y528Y	GMPS_ENST00000295920.7_Silent_p.Y429Y	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	528					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCTACAGTTACGTGTGTGGAA	0.353000			T	MLL	AML								37	116					0	0	1	0	0
COLGALT1	79709	broad.mit.edu	37	19	17688252	17688252	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:17688252G>A	ENST00000252599.4	+	8	1229	c.1109G>A	c.(1108-1110)cGg>cAg	p.R370Q		NM_024656.2	NP_078932.2			collagen beta(1-O)galactosyltransferase 1																		ATCGAGTGCCGGCTGGTGGAG	0.697000													3	7					0	0	1	0	0
ITGA2B	3674	broad.mit.edu	37	17	42457470	42457470	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:42457470C>T	ENST00000262407.5	-	17	1683	c.1652G>A	c.(1651-1653)cGg>cAg	p.R551Q	ITGA2B_ENST00000377068.3_3'UTR|ITGA2B_ENST00000353281.4_Missense_Mutation_p.R551Q	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	551					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CAGCAGCACCCGCCGGCCCTG	0.672000													21	38					0	0	1	0	0
PF4	5196	broad.mit.edu	37	4	74846961	74846961	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:74846961G>A	ENST00000296029.3	-	3	436	c.266C>T	c.(265-267)cCg>cTg	p.P89L		NM_002619.3	NP_002610.1	P02776	PLF4_HUMAN	platelet factor 4	89					cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|negative regulation of MHC class II biosynthetic process|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production	extracellular space|platelet alpha granule lumen	chemokine activity|heparin binding			kidney(1)|lung(1)	2	Breast(15;0.00136)		all cancers(17;0.0034)|Lung(101;0.196)		Drotrecogin alfa(DB00055)	CTTGTACAGCGGGGCTTGCAG	0.423000													24	64					0	0	1	0	0
USP42	84132	broad.mit.edu	37	7	6193761	6193761	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:6193761C>T	ENST00000306177.5	+	15	2734	c.2576C>T	c.(2575-2577)cCg>cTg	p.P859L		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	859	Pro-rich.				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		AGTCCGGCTCCGCCTGCGCGG	0.716000													22	60					0	0	1	0	0
RAD51	5888	broad.mit.edu	37	15	40993313	40993313	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:40993313C>A	ENST00000267868.3	+	3	407	c.139C>A	c.(139-141)Cat>Aat	p.H47N	RAD51_ENST00000532743.1_Missense_Mutation_p.H47N|RAD51_ENST00000557850.1_Missense_Mutation_p.H47N|RAD51_ENST00000382643.3_Missense_Mutation_p.H47N|RAD51_ENST00000423169.2_Missense_Mutation_p.H47N	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	47					DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		AGCTGGATTCCATACTGTGGA	0.383000								Homologous recombination					31	69					4.74835e-14	4.95919e-14	1	1	0
GDF10	2662	broad.mit.edu	37	10	48428868	48428868	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:48428868G>A	ENST00000224605.2	-	2	1283	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	340					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.R340C(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TTCTTCCTGCGGTCTTTGCGC	0.662000													23	37					0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86465140	86465140	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:86465140G>A	ENST00000297814.2	-	16	3573	c.3430C>T	c.(3430-3432)Cgg>Tgg	p.R1144W	RP11-575L7.4_ENST00000586206.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000590813.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.R1078W|RP11-575L7.4_ENST00000590368.1_RNA|RP11-575L7.4_ENST00000589817.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.R1047W	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1144					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						ATATTATCCCGTTCCAGAACT	0.383000													32	69					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40330128	40330128	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:40330128T>C	ENST00000264661.3	-	4	907	c.575A>G	c.(574-576)aAg>aGg	p.K192R	KCNH4_ENST00000607371.1_Missense_Mutation_p.K192R	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	192					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATTATTGGCCTTCATGCCTCC	0.607000													39	108					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121251942	121251942	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:121251942G>A	ENST00000264233.5	-	6	983	c.855C>T	c.(853-855)acC>acT	p.T285T	POLQ_ENST00000488282.1_5'UTR	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	285	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GGCGAAAGTCGGTATGGTAGA	0.448000								DNA polymerases (catalytic subunits)					19	70					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24574974	24574974	+	Silent	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:24574974A>G	ENST00000319715.4	+	13	1941	c.1509A>G	c.(1507-1509)ccA>ccG	p.P503P	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Silent_p.P503P	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	503					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GTGGTCGACCAGGCTGGGAAC	0.383000													10	34					0	0	1	0	0
EPHX1	2052	broad.mit.edu	37	1	226027660	226027660	+	Missense_Mutation	SNP	G	G	A	rs45449793	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:226027660G>A	ENST00000366837.4	+	6	1049	c.853G>A	c.(853-855)Gtc>Atc	p.V285I	EPHX1_ENST00000272167.5_Missense_Mutation_p.V285I	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	285			V -> L (in dbSNP:rs45449793).		aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GCTGTACCCCGTCAAGGAGAA	0.557000													41	80					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664115	22664115	+	RNA	SNP	A	A	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:22664115A>T	ENST00000426066.1	+	0	638					NR_027293.1																						TGTTTAATTCAGCCTTGGAAG	0.413000													5	78					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121528318	121528318	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:121528318G>A	ENST00000305949.1	+	18	2178	c.2133G>A	c.(2131-2133)tcG>tcA	p.S711S		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	711	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CTGTAGTTTCGTCAGATCCTG	0.423000													5	121					0	0	1	0	0
KDM4A	9682	broad.mit.edu	37	1	44156708	44156708	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:44156708C>T	ENST00000372396.3	+	14	2364	c.2230C>T	c.(2230-2232)Cgg>Tgg	p.R744W		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	744					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GTGCAGCGTCCGGGTCCATGC	0.567000													56	136					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30670918	30670918	+	Missense_Mutation	SNP	C	C	T	rs148600920	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:30670918C>T	ENST00000376406.3	-	12	6475	c.5828G>A	c.(5827-5829)cGg>cAg	p.R1943Q	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.R1679Q	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1943	BRCT 1.|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						GGGGATTCCCCGCCCCAGGGC	0.597000								Other conserved DNA damage response genes					5	61					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168067347	168067347	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:168067347G>A	ENST00000409195.1	+	4	754	c.665G>A	c.(664-666)cGg>cAg	p.R222Q	XIRP2_ENST00000409043.1_Missense_Mutation_p.R222Q|XIRP2_ENST00000420519.1_Missense_Mutation_p.R255Q|XIRP2_ENST00000409728.1_Missense_Mutation_p.R255Q|XIRP2_ENST00000409605.1_5'UTR|XIRP2_ENST00000295237.9_Missense_Mutation_p.R222Q|XIRP2_ENST00000409273.1_5'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.R222Q	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	47					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGAAGGAGCGGATGGCGAGG	0.557000													44	116					0	0	1	0	0
BRICD5	283870	broad.mit.edu	37	16	2259563	2259563	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:2259563G>A	ENST00000328540.3	-	5	1699	c.583C>T	c.(583-585)Cga>Tga	p.R195*	BRICD5_ENST00000562360.1_Nonsense_Mutation_p.R195*	NM_182563.3	NP_872369.2			BRICHOS domain containing 5									p.R195*(1)									CCCTCTGCTCGCCGGGCCCAG	0.697000													27	154					0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12888013	12888013	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:12888013C>T	ENST00000379672.5	+	20	2405	c.2105C>T	c.(2104-2106)tCg>tTg	p.S702L	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.S702L|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.S696L	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	702					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TCCTTGGCCTCGGGCCAGCTC	0.652000													10	27					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179412307	179412307	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179412307C>T	ENST00000589042.1	-	339	94270	c.94046G>A	c.(94045-94047)cGt>cAt	p.R31349H	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22409H|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22476H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R28781H|TTN_ENST00000460472.2_Missense_Mutation_p.R22284H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R29708H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29708	Fibronectin type-III 128.						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)			ACCCGATTCACGCTTTTCAAC	0.423000													24	61					0	0	1	0	0
SRRT	51593	broad.mit.edu	37	7	100479773	100479773	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:100479773G>A	ENST00000388793.4	+	5	718	c.498G>A	c.(496-498)acG>acA	p.T166T	SRRT_ENST00000432932.1_Silent_p.T166T|SRRT_ENST00000347433.4_Silent_p.T166T|SRRT_ENST00000457580.2_Silent_p.T166T	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	166					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGGATGAGACGGAGGCCGTCA	0.567000													22	50					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879897	3879897	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:3879897C>T	ENST00000315677.3	-	4	767	c.172G>A	c.(172-174)Gtg>Atg	p.V58M	DLGAP1_ENST00000515196.2_Missense_Mutation_p.V58M|DLGAP1_ENST00000581527.1_Missense_Mutation_p.V58M|DLGAP1_ENST00000584874.1_Missense_Mutation_p.V58M|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	58					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.V58M(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				AAGGGGCCCACGCACTCAGCC	0.672000													7	152					0	0	1	0	0
EXOSC10	5394	broad.mit.edu	37	1	11142844	11142844	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:11142844C>T	ENST00000544779.1	-	10	1186	c.1181G>A	c.(1180-1182)cGc>cAc	p.R394H	EXOSC10_ENST00000376936.4_Missense_Mutation_p.R394H|EXOSC10_ENST00000304457.7_Missense_Mutation_p.R394H			Q01780	EXOSX_HUMAN	exosome component 10	394					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GTTAAGAAGGCGTGCTGCCTG	0.448000													4	149					0	0	1	0	0
C2CD2L	9854	broad.mit.edu	37	11	118984807	118984807	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:118984807C>T	ENST00000336702.3	+	13	2003	c.1644C>T	c.(1642-1644)gaC>gaT	p.D548D	C2CD2L_ENST00000528586.1_Silent_p.D295D	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	547						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						TTGCTCAGGACGAGTTGGCGC	0.627000													36	129					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17279878	17279878	+	Missense_Mutation	SNP	C	C	T	rs111474169		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:17279878C>T	ENST00000375541.5	+	21	3157	c.3088C>T	c.(3088-3090)Cgg>Tgg	p.R1030W	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1030					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCTGCTGGCCCGGCTGGAGGC	0.672000													16	28					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15366930	15366930	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:15366930T>C	ENST00000263377.2	-	9	1917	c.1696A>G	c.(1696-1698)Aag>Gag	p.K566E	BRD4_ENST00000371835.4_Missense_Mutation_p.K566E|BRD4_ENST00000360016.5_Missense_Mutation_p.K566E	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	566	Lys-rich.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			ggaggttccttggctttgctt	0.418000			T	C15orf55	lethal midline carcinoma of young people								11	39					0	0	1	0	0
IGKV2D-24	0	broad.mit.edu	37	2	90044403	90044403	+	RNA	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:90044403C>T	ENST00000462693.1	+	0	354																											CTGAGGATGTCGGGGTTTATT	0.527000													18	256					0	0	1	0	0
ETS2	2114	broad.mit.edu	37	21	40193595	40193595	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:40193595C>T	ENST00000360214.3	+	10	1621	c.1161C>T	c.(1159-1161)gaC>gaT	p.D387D	ETS2_ENST00000360938.3_Silent_p.D387D	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	387					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				GGACTGGAGACGGATGGGAGT	0.532000													40	90					0	0	1	0	0
SH3BP1	23616	broad.mit.edu	37	22	38041481	38041481	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:38041481C>T	ENST00000599616.1	+	8	696	c.696C>T	c.(694-696)tgC>tgT	p.C232C	SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000442465.2_Silent_p.C296C|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000357436.4_Silent_p.C296C|SH3BP1_ENST00000336738.5_Silent_p.C296C			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	296	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					TCGAGGCCTGCGTCATGATGC	0.637000													5	122					0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127336184	127336184	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:127336184G>A	ENST00000265056.7	+	11	2080	c.1836G>A	c.(1834-1836)tcG>tcA	p.S612S		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	612	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						TCTCCATCTCGAAGGCTGGCA	0.587000													12	53					0	0	1	0	0
KAT7	11143	broad.mit.edu	37	17	47904070	47904070	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:47904070C>T	ENST00000503935.2	+	14	2211	c.1175C>T	c.(1174-1176)aCg>aTg	p.T392M	KAT7_ENST00000454930.2_Missense_Mutation_p.T409M|KAT7_ENST00000435742.2_Missense_Mutation_p.T362M|KAT7_ENST00000424009.2_Missense_Mutation_p.T518M|KAT7_ENST00000509773.1_Missense_Mutation_p.T438M|KAT7_ENST00000510819.1_Missense_Mutation_p.T379M|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000259021.4_Missense_Mutation_p.T548M			O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7	548					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T548M(1)									AGTCAGGAGACGGCTGTGAAT	0.478000													8	154					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21876686	21876686	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:21876686C>T	ENST00000399982.2	-	12	2579	c.2515G>A	c.(2515-2517)Gga>Aga	p.G839R	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000557364.1_Missense_Mutation_p.G839R|CHD8_ENST00000430710.3_Missense_Mutation_p.G560R	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	839	Helicase ATP-binding.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTGCCCAATCCCATCTCATCA	0.408000													7	29					0	0	1	0	0
ZNF564	163050	broad.mit.edu	37	19	12638262	12638262	+	Silent	SNP	A	A	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:12638262A>C	ENST00000339282.7	-	4	856	c.660T>G	c.(658-660)acT>acG	p.T220T	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GTTTCTCTCCAGTGTGAGTTC	0.398000													4	99					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27437499	27437499	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:27437499C>T	ENST00000527372.1	-	18	3222	c.3042G>A	c.(3040-3042)gcG>gcA	p.A1014A	MYO18A_ENST00000354329.4_Silent_p.A1014A|MYO18A_ENST00000533112.1_Silent_p.A1014A|MYO18A_ENST00000531253.1_Silent_p.A1014A	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1014	Myosin head-like.			A -> V (in Ref. 1; BAD66838).	anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TTTTGACAGCCGCCATGCCTG	0.647000													3	11					0	0	1	0	0
PTBP1	5725	broad.mit.edu	37	19	803588	803588	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:803588T>C	ENST00000356948.6	+	3	490	c.67T>C	c.(67-69)Tgt>Cgt	p.C23R	PTBP1_ENST00000394601.4_Missense_Mutation_p.C23R|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000349038.4_Missense_Mutation_p.C23R	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	23					negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTCTCTACTTGTGTCACTAA	0.612000													24	135					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50048649	50048649	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:50048649T>C	ENST00000371564.3	-	9	2896	c.2677A>G	c.(2677-2679)Acc>Gcc	p.T893A	NFATC2_ENST00000396009.3_Missense_Mutation_p.T893A|NFATC2_ENST00000414705.1_Missense_Mutation_p.T873A	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	893					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TGTTTAATGGTCACCCCCGCA	0.522000													7	213					0	0	1	0	0
CRABP2	1382	broad.mit.edu	37	1	156670351	156670351	+	Missense_Mutation	SNP	C	C	T	rs146571038	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:156670351C>T	ENST00000368222.3	-	3	503	c.349G>A	c.(349-351)Gat>Aat	p.D117N	CRABP2_ENST00000368221.1_Missense_Mutation_p.D117N	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	117					epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity			endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)	AGTTCCCCATCGTTGGTCAGT	0.547000													4	69					0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117103926	117103926	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:117103926C>T	ENST00000307564.4	-	21	4115	c.3954G>A	c.(3952-3954)tcG>tcA	p.S1318S	AKNA_ENST00000374075.5_Silent_p.S1237S|AKNA_ENST00000374088.3_Silent_p.S1318S|AKNA_ENST00000223791.3_Silent_p.S778S|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374079.4_Silent_p.S263S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GTGGGCGTGGCGACGACCCCG	0.627000													32	106					0	0	1	0	0
SUMO3	6612	broad.mit.edu	37	21	46233779	46233779	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:46233779C>T	ENST00000411651.2	-	2	374	c.262G>A	c.(262-264)Gag>Aag	p.E88K	SUMO3_ENST00000479153.1_Intron|SUMO3_ENST00000332859.6_Intron|SUMO3_ENST00000397893.3_Intron|SUMO3_ENST00000397898.3_Intron			P55854	SUMO3_HUMAN	small ubiquitin-like modifier 3	50	Ubiquitin-like.				protein sumoylation	cytoplasm|kinetochore	protein binding			prostate(1)	1				Colorectal(79;0.058)		GAGGGCACCTCGGGCAGCTGC	0.642000													4	14					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100082480	100082480	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:100082480G>A	ENST00000375202.2	+	25	2636	c.1284G>A	c.(1282-1284)aaG>aaA	p.K428K	CCDC180_ENST00000411667.2_Silent_p.K425K|CCDC180_ENST00000395220.1_Silent_p.K527K|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Silent_p.K567K|CCDC180_ENST00000529487.1_Silent_p.K428K|CCDC180_ENST00000460482.2_3'UTR					coiled-coil domain containing 180																		CCCTGAACAAGGAGCTAGGTG	0.527000													53	135					0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139609729	139609729	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:139609729T>G	ENST00000358430.3	-	2	540	c.308A>C	c.(307-309)gAg>gCg	p.E103A		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	103						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		AGTTGTTTCCTCACAGTCCCC	0.532000													5	116					0	0	1	0	0
YIF1B	90522	broad.mit.edu	37	19	38798088	38798088	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:38798088C>T	ENST00000392124.3	-	6	990	c.676G>A	c.(676-678)Gta>Ata	p.V226I	YIF1B_ENST00000339413.6_Missense_Mutation_p.V257I|YIF1B_ENST00000591755.1_Missense_Mutation_p.V254I|YIF1B_ENST00000329420.8_Missense_Mutation_p.V242I|YIF1B_ENST00000592694.1_Missense_Mutation_p.V226I|YIF1B_ENST00000591784.1_Missense_Mutation_p.V226I|YIF1B_ENST00000592246.1_Missense_Mutation_p.V191I|YIF1B_ENST00000337679.8_Missense_Mutation_p.V254I	NM_033557.3	NP_291035.1	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B (S. cerevisiae)	257						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AAGATGGCTACGCAGCACCAG	0.622000													8	31					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8449746	8449746	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:8449746G>A	ENST00000381196.4	-	31	4510	c.3967C>T	c.(3967-3969)Cgc>Tgc	p.R1323C	PTPRD_ENST00000356435.5_Missense_Mutation_p.R1323C|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1301C|PTPRD_ENST00000355233.5_Missense_Mutation_p.R917C|PTPRD_ENST00000397606.3_Missense_Mutation_p.R902C|PTPRD_ENST00000397611.3_Missense_Mutation_p.R913C|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1323C|PTPRD_ENST00000397617.3_Missense_Mutation_p.R902C|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1310C|PTPRD_ENST00000537002.1_Missense_Mutation_p.R913C|PTPRD_ENST00000486161.1_Missense_Mutation_p.R916C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1323					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R794C(1)|p.R1323C(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAGTTAAGGCGCCTCAGTTCT	0.463000										TSP Lung(15;0.13)			26	117					0	0	1	0	0
SLC27A1	376497	broad.mit.edu	37	19	17608233	17608233	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:17608233C>T	ENST00000252595.7	+	7	1263	c.1166C>T	c.(1165-1167)gCc>gTc	p.A389V	SLC27A1_ENST00000598424.1_Missense_Mutation_p.A210V|SLC27A1_ENST00000442725.1_Missense_Mutation_p.A389V|CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	389	Sufficient for oligomerization (By similarity).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTCTACGGCGCCACCGAGTGC	0.667000													16	20					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29630469	29630469	+	Splice_Site	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:29630469C>T	ENST00000318184.5	-	10	1111	c.1113_splice	c.e10+1	p.R371_splice	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	371	CUB 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GAAACTTACACGTTTGTTTTG	0.368000													15	42					0	0	1	0	0
RP11-1055B8.7	0	broad.mit.edu	37	17	79426159	79426159	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:79426159C>T	ENST00000307745.7	+	25	5685	c.5685C>T	c.(5683-5685)taC>taT	p.Y1895Y																								GCCTGCTGTACGCGGGCAGCG	0.687000													8	14					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48744475	48744475	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:48744475C>T	ENST00000314191.2	-	61	8218	c.8162G>A	c.(8161-8163)cGg>cAg	p.R2721Q	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.R2721Q	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2722	KIP-binding.				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)				TAGGTCCGTCCGGCCGGCCGC	0.567000								Non-homologous end-joining					7	208					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133738400	133738400	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:133738400C>T	ENST00000318560.5	+	4	1181	c.800C>T	c.(799-801)aCg>aTg	p.T267M		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	267	Protein kinase.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TACAGCCTGACGGTGGCCGTG	0.622000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								11	29					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53073993	53073993	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:53073993G>A	ENST00000276480.7	-	14	2219	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	512						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GGCGTTTACCGAAAACTTGGG	0.438000													9	147					0	0	1	0	0
KLHDC10	23008	broad.mit.edu	37	7	129756485	129756485	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:129756485C>T	ENST00000335420.5	+	3	588	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	KLHDC10_ENST00000495724.1_3'UTR	NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	152								p.R152R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						CTACATGCCCCGGGAATTGGC	0.468000													42	99					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152278093	152278093	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:152278093C>T	ENST00000368799.1	-	3	9304	c.9269G>A	c.(9268-9270)cGc>cAc	p.R3090H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3090	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)			CTGCTCATGGCGGGATCCTTG	0.582000									Ichthyosis				114	235					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101717893	101717893	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:101717893G>A	ENST00000251127.6	-	40	4548	c.4467C>T	c.(4465-4467)cgC>cgT	p.R1489R		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1489						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGAACTTGACGCGGAACGTGG	0.532000													4	88					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32130816	32130816	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:32130816C>A	ENST00000373672.3	-	56	4028	c.3512G>T	c.(3511-3513)gGc>gTc	p.G1171V	COL16A1_ENST00000271069.6_Missense_Mutation_p.G1171V	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1171	Triple-helical region 2 (COL2) with 2 imperfections.				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)		TCCAACTTTGCCTGGGAATCC	0.577000													10	120					4.68919e-08	4.84132e-08	1	1	0
CDH23	64072	broad.mit.edu	37	10	73575024	73575024	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:73575024A>T	ENST00000224721.6	+	69	10074	c.10069A>T	c.(10069-10071)Aca>Tca	p.T3357S	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.T1112S	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3352					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCTGGAGATCACAGAGCTGTG	0.647000													8	11					0	0	1	0	0
CEACAM16	388551	broad.mit.edu	37	19	45211162	45211162	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:45211162G>A	ENST00000587331.1	+	6	1185	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Missense_Mutation_p.V324M	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	324										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				GATCGTGCCCGTGCCCACCAA	0.652000													5	15					0	0	1	0	0
MLC1	23209	broad.mit.edu	37	22	50502485	50502485	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:50502485G>A	ENST00000311597.5	-	11	1643	c.1037C>T	c.(1036-1038)cCg>cTg	p.P346L	MLC1_ENST00000431262.2_Missense_Mutation_p.P316L|MLC1_ENST00000535444.1_Missense_Mutation_p.P267L|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000538737.1_Missense_Mutation_p.P312L|MLC1_ENST00000395876.2_Missense_Mutation_p.P346L|MLC1_ENST00000450140.2_Missense_Mutation_p.P294L	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	346						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		GCGCTCCTGCGGGCCGTTCTG	0.706000													6	35					0	0	1	0	0
GNB4	59345	broad.mit.edu	37	3	179131318	179131318	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:179131318G>T	ENST00000232564.3	-	8	867	c.581C>A	c.(580-582)cCt>cAt	p.P194H	GNB4_ENST00000465153.1_5'UTR|GNB4_ENST00000468623.1_Missense_Mutation_p.P194H	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	194					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			CCTCATGTCAGGACTCAAAGA	0.433000													26	63					1.17739e-12	1.2273e-12	1	1	0
DDHD1	0	broad.mit.edu	37	14	53518597	53518597	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:53518597G>A	ENST00000323669.5	-	12	2485	c.2486C>T	c.(2485-2487)cCg>cTg	p.P829L	DDHD1_ENST00000395606.1_Intron|DDHD1_ENST00000555621.1_Intron|DDHD1_ENST00000357758.3_Intron	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	829	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TACATTTTCCGGAAAAAGAAG	0.338000													5	11					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52184185	52184185	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:52184185G>A	ENST00000354534.5	+	25	4601	c.4423G>A	c.(4423-4425)Gga>Aga	p.G1475R	SCN8A_ENST00000545061.1_Missense_Mutation_p.G1434R	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1475					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CCTTTACTTCGGAGGTCAGGA	0.463000													5	14					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50235572	50235572	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:50235572C>T	ENST00000338821.5	-	20	2390	c.2126G>A	c.(2125-2127)cGc>cAc	p.R709H	ATP9A_ENST00000311637.5_Missense_Mutation_p.R573H|ATP9A_ENST00000402822.1_Missense_Mutation_p.R588H	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	709					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGCCTCCCCGCGGTTGGTCAC	0.587000													16	35					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274020	39274020	+	Missense_Mutation	SNP	C	C	G	rs80129796	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:39274020C>G	ENST00000391413.2	-	1	586	c.548G>C	c.(547-549)aGc>aCc	p.S183T		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	183						keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCGGGGGCAGCTGGAGATGAC	0.622000													3	15					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50944328	50944328	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:50944328G>A	ENST00000357701.5	+	8	815	c.764G>A	c.(763-765)aGt>aAt	p.S255N		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	255	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GTCAAGAAGAGTGCAGGTCAG	0.567000													5	6					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28554157	28554157	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:28554157C>T	ENST00000452236.2	-	1	955	c.338G>A	c.(337-339)cGg>cAg	p.R113Q	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	113	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATTATGCTCCCGCACCCAAGA	0.527000													7	230					0	0	1	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111741628	111741628	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:111741628C>T	ENST00000374595.4	-	7	1113	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H	CTNNAL1_ENST00000325580.6_Missense_Mutation_p.R345H|CTNNAL1_ENST00000325551.4_Missense_Mutation_p.R345H			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	345					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TTCCAAGATGCGTTCTCTGTG	0.413000													20	43					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82581482	82581482	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:82581482G>A	ENST00000423517.2	-	5	9124	c.8787C>T	c.(8785-8787)ccC>ccT	p.P2929P	PCLO_ENST00000333891.8_Silent_p.P2929P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2860					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTAAATCAACGGGTTTTTCAT	0.428000													13	121					0	0	1	0	0
HORMAD1	84072	broad.mit.edu	37	1	150689638	150689638	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:150689638C>T	ENST00000368993.2	-	3	259	c.154G>A	c.(154-156)Gct>Act	p.A52T	HORMAD1_ENST00000322343.7_Missense_Mutation_p.A52T|HORMAD1_ENST00000476530.1_5'UTR|HORMAD1_ENST00000368995.4_Missense_Mutation_p.R2H|HORMAD1_ENST00000361824.2_Missense_Mutation_p.A52T			Q86X24	HORM1_HUMAN	HORMA domain containing 1	52	HORMA.				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			GTTCCATAAGCGCATTCTGGG	0.318000													5	98					0	0	1	0	0
NTNG2	84628	broad.mit.edu	37	9	135073796	135073796	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:135073796C>T	ENST00000393229.3	+	3	1433	c.657C>T	c.(655-657)ttC>ttT	p.F219F	NTNG2_ENST00000372179.3_Silent_p.F219F|NTNG2_ENST00000360670.3_Silent_p.F219F|NTNG2_ENST00000393228.4_Silent_p.F219F	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	219	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GGGACCGCTTCGCCATCTTTG	0.657000													25	69					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4934404	4934404	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:4934404G>A	ENST00000345988.2	-	22	4341	c.4252C>T	c.(4252-4254)Cgc>Tgc	p.R1418C	PPL_ENST00000590782.2_Missense_Mutation_p.R1416C	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1418					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGTACCTCGCGCTCGGCCTCC	0.701000													24	86					0	0	1	0	0
FGF9	2254	broad.mit.edu	37	13	22246272	22246272	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:22246272T>C	ENST00000382353.5	+	1	751	c.221T>C	c.(220-222)tTa>tCa	p.L74S		NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	74					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		GGATTTCACTTAGAAATCTTC	0.507000													40	56					0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43465702	43465702	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:43465702C>T	ENST00000039989.4	+	18	2622	c.2608C>T	c.(2608-2610)Cgt>Tgt	p.R870C	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.R927C	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	870							binding	p.R870C(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						AAATGGACATCGTTACCAAGC	0.408000													17	39					0	0	1	0	0
PSMD1	5707	broad.mit.edu	37	2	231927025	231927025	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:231927025G>A	ENST00000308696.6	+	3	286	c.124G>A	c.(124-126)Gta>Ata	p.V42I	PSMD1_ENST00000409643.1_Missense_Mutation_p.V42I|PSMD1_ENST00000373635.4_Missense_Mutation_p.V42I	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	42					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	p.V42fs*1(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TTCCGAGTCCGTAGACAAAAT	0.303000													9	16					0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40711065	40711065	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:40711065C>T	ENST00000253055.3	+	4	1338	c.1050C>T	c.(1048-1050)ttC>ttT	p.F350F		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	350	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGCCAGATTTCGGTAGCATCT	0.597000													14	153					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1262500	1262500	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:1262500G>A	ENST00000447027.1	+	31	4457	c.4399G>A	c.(4399-4401)Gaa>Aaa	p.E1467K	MUC5B_ENST00000529681.1_Missense_Mutation_p.E1464K			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1464	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACAGCAACCGAAAAGACCAC	0.706000													5	7					0	0	1	0	0
DAB2IP	153090	broad.mit.edu	37	9	124535156	124535156	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:124535156C>T	ENST00000408936.3	+	12	2531	c.2349C>T	c.(2347-2349)gcC>gcT	p.A783A	DAB2IP_ENST00000309989.1_Silent_p.A659A|DAB2IP_ENST00000259371.2_Silent_p.A755A			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	783					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						AGCTGGTGGCCGGGTGGCCGG	0.756000													9	20					0	0	1	0	0
METTL24	728464	broad.mit.edu	37	6	110636575	110636575	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:110636575C>T	ENST00000338882.4	-	3	526	c.527G>A	c.(526-528)cGc>cAc	p.R176H		NM_001123364.1	NP_001116836.1	Q5JXM2	CF186_HUMAN	methyltransferase like 24	176						extracellular region											CTGCTTGTTGCGGATTTGATG	0.458000													6	133					0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71748731	71748731	+	Translation_Start_Site	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:71748731G>A	ENST00000393524.2	-	0	701				PHLPP2_ENST00000568954.1_Intron|PHLPP2_ENST00000567016.1_Intron			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2							cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GAAAGAAATCGTTAGCTAGAA	0.388000													9	8					0	0	1	0	0
CPB2	1361	broad.mit.edu	37	13	46629960	46629960	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:46629960G>A	ENST00000181383.4	-	10	1040	c.1024C>T	c.(1024-1026)Cgt>Tgt	p.R342C	CPB2-AS1_ENST00000606991.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.R305C|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606351.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	342					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		TCAATAGCACGAACTGCTTCA	0.343000													18	54					0	0	1	0	0
CNOT7	29883	broad.mit.edu	37	8	17102627	17102627	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:17102627A>C	ENST00000361272.4	-	2	333	c.35T>G	c.(34-36)aTt>aGt	p.I12S	CNOT7_ENST00000518885.1_5'UTR|CNOT7_ENST00000523917.1_Missense_Mutation_p.I12S	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	12					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		AACTTCACAAATTCTTTGGCT	0.398000													14	29					0	0	1	0	0
PCDHGA10	0	broad.mit.edu	37	5	140792918	140792918	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140792918C>T	ENST00000398610.2	+	1	176	c.176C>T	c.(175-177)gCg>gTg	p.A59V	PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGGTCTGGCGCCCCGGGAG	0.607000													7	182					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162680660	162680660	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:162680660G>A	ENST00000306100.5	-	6	1066	c.630C>T	c.(628-630)ggC>ggT	p.G210G	FSTL5_ENST00000427802.2_Silent_p.G209G|FSTL5_ENST00000379164.4_Silent_p.G209G|FSTL5_ENST00000536695.1_Silent_p.G209G	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	210	EF-hand 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AGAGATCCTTGCCAAGTTCTT	0.284000													17	50					0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8215392	8215392	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:8215392C>T	ENST00000361926.3	+	2	145	c.35C>T	c.(34-36)cCc>cTc	p.P12L	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P12L	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	12	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCAACACCCCCCACGCAGAAG	0.637000													10	85					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2160097	2160097	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:2160097C>T	ENST00000262304.4	-	15	5279	c.5071G>A	c.(5071-5073)Ggc>Agc	p.G1691S	PKD1_ENST00000423118.1_Missense_Mutation_p.G1691S	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1691	PKD 12.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGGTAGGTGCCGGCCTCGAGC	0.687000													9	13					0	0	1	0	0
RHBDF1	64285	broad.mit.edu	37	16	114720	114720	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:114720C>T	ENST00000262316.6	-	3	367	c.225G>A	c.(223-225)acG>acA	p.T75T	RHBDF1_ENST00000454039.2_Silent_p.T75T	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	75					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GTGTGATGGACGTCTGGCGTT	0.642000													5	151					0	0	1	0	0
TTLL12	23170	broad.mit.edu	37	22	43568521	43568521	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:43568521G>A	ENST00000216129.6	-	10	1444	c.1381C>T	c.(1381-1383)Cga>Tga	p.R461*		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	461	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				ACGTCTTCTCGAAGGAACAAC	0.587000													12	67					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223178967	223178967	+	Missense_Mutation	SNP	G	G	A	rs148545972	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:223178967G>A	ENST00000284476.6	+	8	4392	c.4228G>A	c.(4228-4230)Gag>Aag	p.E1410K		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1410					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTGCGACCCCGAGAATAAACA	0.478000													30	59					0	0	1	0	0
CINP	51550	broad.mit.edu	37	14	102816276	102816276	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:102816276G>A	ENST00000216756.6	-	4	456	c.416C>T	c.(415-417)aCg>aTg	p.T139M	CINP_ENST00000536961.2_Missense_Mutation_p.T154M|CINP_ENST00000541568.2_Intron	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	139					cell cycle|cell division|DNA repair|DNA replication	nucleus	protein binding			large_intestine(2)|lung(2)	4						TGTAGGCCACGTGTGGAACAG	0.418000													15	47					0	0	1	0	0
NMRAL1	57407	broad.mit.edu	37	16	4516290	4516290	+	Silent	SNP	G	G	A	rs145734906		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:4516290G>A	ENST00000574733.1	-	4	1122	c.393C>T	c.(391-393)gaC>gaT	p.D131D	NMRAL1_ENST00000572391.1_5'UTR|NMRAL1_ENST00000283429.6_Silent_p.D131D|NMRAL1_ENST00000574425.1_Silent_p.D131D|NMRAL1_ENST00000404295.3_Silent_p.D131D			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	131						nucleus|perinuclear region of cytoplasm	binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						CCCCTTTGCCGTCAAAGTGCG	0.592000													13	39					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956195	18956195	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:18956195G>A	ENST00000302797.3	-	1	361	c.137C>T	c.(136-138)gCa>gTa	p.A46V	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	46					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAGCACAACTGCGTTTCCTGT	0.582000													73	357					0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56388644	56388644	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:56388644G>A	ENST00000423270.1	-	9	1281	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	RFX7_ENST00000422057.1_Missense_Mutation_p.R331C|RFX7_ENST00000559447.2_Missense_Mutation_p.R331C|RFX7_ENST00000317318.6_Missense_Mutation_p.R428C	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	331					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGAGGGTAACGGTGCCGGGCA	0.532000													10	31					0	0	1	0	0
DHX33	56919	broad.mit.edu	37	17	5365760	5365760	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:5365760C>T	ENST00000225296.3	-	3	757	c.557G>A	c.(556-558)cGg>cAg	p.R186Q	DHX33_ENST00000433302.3_Intron	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	186	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCTGTATTTCCGAAGCAAAGA	0.458000													29	75					0	0	1	0	0
ANKS6	203286	broad.mit.edu	37	9	101552591	101552591	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:101552591G>A	ENST00000353234.4	-	2	704	c.657C>T	c.(655-657)caC>caT	p.H219H	ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000375018.1_Silent_p.H219H|ANKS6_ENST00000540940.1_Silent_p.H24H|ANKS6_ENST00000471846.1_5'UTR			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	219										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TCCGGGCTGCGTGGTTGGGGT	0.692000													4	87					0	0	1	0	0
NUTM2F	54754	broad.mit.edu	37	9	97088128	97088128	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:97088128G>A	ENST00000335456.7	-	2	125	c.105C>T	c.(103-105)ccC>ccT	p.P35P	NUTM2F_ENST00000341207.4_Silent_p.P35P|NUTM2F_ENST00000253262.4_Silent_p.P35P					NUT family member 2F																		GTGCTGGGCCGGGAGCGGGTG	0.667000													19	41					0	0	1	0	0
PFKFB4	5210	broad.mit.edu	37	3	48559455	48559455	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:48559455G>A	ENST00000232375.3	-	13	1426	c.1314C>T	c.(1312-1314)aaC>aaT	p.N438N	PFKFB4_ENST00000383734.2_Silent_p.N403N|PFKFB4_ENST00000541519.1_Silent_p.N404N|PFKFB4_ENST00000536104.1_Silent_p.N427N|PFKFB4_ENST00000416568.1_Silent_p.N431N|PFKFB4_ENST00000490115.1_5'UTR	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	438	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CAGCAGCCACGTTCAGGAATA	0.557000													17	64					0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76831511	76831511	+	Missense_Mutation	SNP	C	C	T	rs148226667		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:76831511C>T	ENST00000312010.6	-	4	650	c.326G>A	c.(325-327)cGa>cAa	p.R109Q	USP36_ENST00000589424.1_Missense_Mutation_p.R109Q|USP36_ENST00000590546.2_Missense_Mutation_p.R109Q|USP36_ENST00000542802.2_Missense_Mutation_p.R109Q	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	109					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CAGAGACAGTCGCTCCGTGGG	0.582000													9	30					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37316002	37316002	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:37316002G>A	ENST00000373091.3	-	9	1252	c.1236C>T	c.(1234-1236)gaC>gaT	p.D412D	GRIK3_ENST00000462621.1_5'UTR|GRIK3_ENST00000373093.4_Silent_p.D412D	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	412					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TGTTGAGCCCGTCGGCAGGAC	0.537000													23	36					0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7677626	7677626	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:7677626G>A	ENST00000446248.2	+	13	2429	c.2328G>A	c.(2326-2328)acG>acA	p.T776T	CAMSAP3_ENST00000160298.4_Silent_p.T749T	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	749	Pro-rich.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CTGGCCCCACGACGGGGCCCA	0.766000													5	5					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7700833	7700833	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:7700833C>T	ENST00000572933.1	+	52	9525	c.8065C>T	c.(8065-8067)Cgt>Tgt	p.R2689C	DNAH2_ENST00000389173.2_Missense_Mutation_p.R2689C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2689					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCCCAGCAAGCGTCCTCCTAT	0.532000													4	189					0	0	1	0	0
LENG1	79165	broad.mit.edu	37	19	54663422	54663422	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:54663422C>T	ENST00000222224.3	-	1	198	c.12G>A	c.(10-12)ttG>ttA	p.L4L		NM_024316.1	NP_077292.1	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	4										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCTTCTTGGGCAAGATATTCA	0.627000											OREG0003639	type=REGULATORY REGION|Gene=LENG1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	5	15					0	0	1	0	0
SERPINE2	5270	broad.mit.edu	37	2	224849604	224849604	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:224849604C>T	ENST00000409840.3	-	6	1409	c.749G>A	c.(748-750)aGc>aAc	p.S250N	SERPINE2_ENST00000447280.2_Missense_Mutation_p.S262N|SERPINE2_ENST00000409304.1_Missense_Mutation_p.S250N|SERPINE2_ENST00000258405.4_Missense_Mutation_p.S250N			P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	250					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CATGCTGATGCTTTCCCCGTG	0.502000													15	47					0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170725811	170725811	+	Silent	SNP	G	G	A	rs148315082		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:170725811G>A	ENST00000523189.1	+	28	3380	c.3216G>A	c.(3214-3216)gcG>gcA	p.A1072A	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	1072					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGCAGAGGCGTTGCGCAGTG	0.498000			T	TRD@	ALL								9	33					0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124739857	124739857	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:124739857C>T	ENST00000311127.4	-	4	1098	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	344						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CGTCAAAGATCGCAGCGTTCT	0.527000													5	30					0	0	1	0	0
GYPA	2993	broad.mit.edu	37	4	145038028	145038028	+	Silent	SNP	G	G	A	rs140442202		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:145038028G>A	ENST00000360771.4	-	5	451	c.336C>T	c.(334-336)taC>taT	p.Y112Y	GYPA_ENST00000503627.1_Silent_p.Y67Y|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000504786.1_Silent_p.Y80Y|GYPA_ENST00000512789.1_Silent_p.Y47Y|GYPA_ENST00000512064.1_Silent_p.Y99Y|GYPA_ENST00000535709.1_Silent_p.Y86Y|GYPA_ENST00000324022.10_Silent_p.Y79Y|GYPB_ENST00000283126.7_Intron	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	112					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					GGCGAATACCGTAAGAAATTA	0.368000													38	90					0	0	1	0	0
FBXW9	84261	broad.mit.edu	37	19	12800212	12800212	+	Nonsense_Mutation	SNP	G	G	A	rs146837377	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:12800212G>A	ENST00000380339.3	-	9	1402	c.1366C>T	c.(1366-1368)Cga>Tga	p.R456*	FBXW9_ENST00000587955.1_Nonsense_Mutation_p.R446*|FBXW9_ENST00000544494.1_Nonsense_Mutation_p.R164*|FBXW9_ENST00000393261.3_Nonsense_Mutation_p.R426*			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	456							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						TCATGCCTTCGGGTGCAAATG	0.622000													11	28					0	0	1	0	0
GPC1	2817	broad.mit.edu	37	2	241402907	241402907	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:241402907C>T	ENST00000264039.2	+	4	1109	c.861C>T	c.(859-861)gaC>gaT	p.D287D		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	287					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CCGACCTGGACGCCGAGTGGA	0.682000													22	55					0	0	1	0	0
CCDC130	81576	broad.mit.edu	37	19	13868281	13868281	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:13868281G>A	ENST00000586600.1	+	6	693	c.190G>A	c.(190-192)Ggc>Agc	p.G64S	CCDC130_ENST00000221554.8_Missense_Mutation_p.G64S			P13994	CC130_HUMAN	coiled-coil domain containing 130	64					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			GAACCACATCGGCATGGGTGA	0.557000													9	18					0	0	1	0	0
NEK9	91754	broad.mit.edu	37	14	75558141	75558141	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:75558141G>A	ENST00000238616.5	-	19	2432	c.2274C>T	c.(2272-2274)ggC>ggT	p.G758G		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	758	Interaction with NEK6.|Poly-Gly.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		CTTCACCACCGCCGCCCCCGC	0.522000													15	30					0	0	1	0	0
BCL3	602	broad.mit.edu	37	19	45260309	45260309	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:45260309G>A	ENST00000164227.5	+	4	799	c.555G>A	c.(553-555)ccG>ccA	p.P185P		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	185					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CCACATTACCGTCTGTGGTCC	0.667000			T	IGH@	CLL								5	21					0	0	1	0	0
PCDHGC5	0	broad.mit.edu	37	5	140871074	140871074	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140871074C>T	ENST00000252087.1	+	1	2267	c.2267C>T	c.(2266-2268)aCg>aTg	p.T756M	PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		756					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGACGGCACGCTCAAGTAC	0.637000													5	76					0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74327550	74327550	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:74327550C>T	ENST00000268059.6	+	8	1844	c.1748C>T	c.(1747-1749)tCg>tTg	p.S583L	PML_ENST00000354026.6_Missense_Mutation_p.S535L|PML_ENST00000395132.2_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000435786.2_3'UTR|PML_ENST00000395135.3_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000569477.1_Silent_p.L596L|PML_ENST00000569965.1_Intron|PML_ENST00000565898.1_Intron	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	583					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CCACAGTCCTCGCCAGCCCAC	0.642000			T	"""RARA, PAX5"""	"""APL, ALL"""								83	213					0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150839547	150839547	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:150839547G>A	ENST00000397238.2	+	16	2099	c.2099G>A	c.(2098-2100)tGc>tAc	p.C700Y	AGAP3_ENST00000463381.1_Missense_Mutation_p.C369Y	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	664	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TGCATTGAGTGCTCAGGCATC	0.627000													20	37					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56385933	56385933	+	Missense_Mutation	SNP	G	G	A	rs143530655		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:56385933G>A	ENST00000355701.3	-	22	5570	c.4700C>T	c.(4699-4701)gCg>gTg	p.A1567V	BZRAP1_ENST00000343736.4_Missense_Mutation_p.A1567V|BZRAP1_ENST00000268893.6_Missense_Mutation_p.A1507V	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1567						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTGCCCGTCGCACTGCGGCC	0.711000													36	49					0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42788369	42788369	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:42788369C>T	ENST00000372980.3	-	2	1930	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	353					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTGCAGCATGCGGCGCTTGGT	0.657000													4	39					0	0	1	0	0
GPR68	0	broad.mit.edu	37	14	91700524	91700524	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:91700524C>T	ENST00000531499.2	-	2	1210	c.871G>A	c.(871-873)Gag>Aag	p.E291K	GPR68_ENST00000535815.1_Missense_Mutation_p.E291K|GPR68_ENST00000238699.3_Missense_Mutation_p.E301K			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	291					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		TGGGTGGTCTCGCTGACGAAG	0.692000													4	9					0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123319048	123319048	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:123319048G>A	ENST00000275162.4	+	2	1461	c.126G>A	c.(124-126)ccG>ccA	p.P42P	CLVS2_ENST00000368438.1_Intron	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	42					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TCACCAGGCCGGACATTGGCT	0.567000													30	77					0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139285281	139285281	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:139285281C>T	ENST00000406875.3	-	11	2411	c.2317G>A	c.(2317-2319)Ggt>Agt	p.G773S	HIPK2_ENST00000342645.6_Missense_Mutation_p.G773S|HIPK2_ENST00000428878.2_Missense_Mutation_p.G746S	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	773	Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GTCACATGACCGGTCAATAGT	0.552000													7	99					0	0	1	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22884792	22884792	+	Nonsense_Mutation	SNP	G	G	A	rs138183043		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:22884792G>A	ENST00000276431.4	-	7	1074	c.790C>T	c.(790-792)Cga>Tga	p.R264*	TNFRSF10B_ENST00000542226.1_Nonsense_Mutation_p.R84*|TNFRSF10B_ENST00000347739.3_Nonsense_Mutation_p.R235*	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	264					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		GCCCCAGGTCGTTGTGAGCTC	0.567000													7	70					0	0	1	0	0
PPAP2B	8613	broad.mit.edu	37	1	56977736	56977736	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:56977736G>A	ENST00000371250.3	-	5	1273	c.722C>T	c.(721-723)aCg>aTg	p.T241M	PPAP2B_ENST00000459962.1_5'UTR	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	241					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						AGACAGTCCCGTGTAGAAGGC	0.577000													25	69					0	0	1	0	0
OR12D2	26529	broad.mit.edu	37	6	29364665	29364665	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:29364665C>A	ENST00000383555.2	+	1	250	c.189C>A	c.(187-189)aaC>aaA	p.N63K	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TCCTGGGAAACCTGTCCTACC	0.438000													26	66					1.85244e-09	1.91803e-09	1	1	0
CD160	11126	broad.mit.edu	37	1	145699022	145699022	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:145699022T>C	ENST00000369290.1	-	3	299	c.142A>G	c.(142-144)Act>Gct	p.T48A	CD160_ENST00000401557.3_Missense_Mutation_p.T157A|CD160_ENST00000369288.2_Missense_Mutation_p.T157A|CD160_ENST00000235933.6_Missense_Mutation_p.T157A			O95971	BY55_HUMAN	CD160 molecule	157	Ig-like V-type.				cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response	anchored to plasma membrane	MHC class I receptor activity|receptor binding			endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			GAACTGAGAGTGCCTTCATTA	0.488000													5	70					0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50873400	50873400	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:50873400C>T	ENST00000359139.3	+	13	1800	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V	PPP6R2_ENST00000395741.3_Missense_Mutation_p.A470V|PPP6R2_ENST00000395744.3_Missense_Mutation_p.A469V|PPP6R2_ENST00000216061.5_Missense_Mutation_p.A469V	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	469						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TTCAGGGCAGCGGGTGGCATG	0.667000													9	30					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77442715	77442715	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:77442715A>G	ENST00000451710.3	-	7	1057	c.820T>C	c.(820-822)Tct>Cct	p.S274P	TRPM6_ENST00000376864.4_Missense_Mutation_p.S274P|TRPM6_ENST00000376872.3_Missense_Mutation_p.S274P|TRPM6_ENST00000361255.3_Missense_Mutation_p.S269P|TRPM6_ENST00000359047.2_Missense_Mutation_p.S274P|TRPM6_ENST00000360774.1_Missense_Mutation_p.S274P|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000449912.2_Missense_Mutation_p.S269P|TRPM6_ENST00000376871.3_Missense_Mutation_p.S274P			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	274					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTCTGCAGAGAGAGGTACTTC	0.512000													21	67					0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70713451	70713451	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:70713451G>A	ENST00000226444.3	-	6	668	c.556C>T	c.(556-558)Cgt>Tgt	p.R186C		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	186					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						AATAGTACACGTGGACTCTTT	0.358000													16	52					0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55284917	55284917	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:55284917A>T	ENST00000336077.6	+	3	243	c.203A>T	c.(202-204)gAc>gTc	p.D68V	CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.D68V|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	68	Ig-like C2-type 1.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		ATGTTTAACGACACTTTGCGC	0.517000													5	127					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73677817	73677817	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:73677817C>T	ENST00000264448.6	+	8	4271	c.4160C>T	c.(4159-4161)cCg>cTg	p.P1387L	ALMS1_ENST00000409009.1_Missense_Mutation_p.P1345L|ALMS1_ENST00000377715.1_Missense_Mutation_p.P1387L	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1387	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACAGAGAAGCCGAGTATTTTC	0.473000													44	111					0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2116221	2116221	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:2116221C>T	ENST00000355272.6	-	18	2264	c.2058G>A	c.(2056-2058)tcG>tcA	p.S686S	AP3D1_ENST00000345016.5_Silent_p.S686S|AP3D1_ENST00000356926.4_Silent_p.S595S|AP3D1_ENST00000350812.6_Silent_p.S517S	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	686					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCGATGGCGAGCTCTTGA	0.652000													8	18					0	0	1	0	0
FKBP10	60681	broad.mit.edu	37	17	39973358	39973358	+	Silent	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:39973358C>A	ENST00000321562.4	+	2	398	c.294C>A	c.(292-294)ctC>ctA	p.L98L		NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	98	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		TGGGGCGCCTCATCACTGGCA	0.627000													4	90					0.014758	0.0149096	1	1	0
FZD10	11211	broad.mit.edu	37	12	130648819	130648819	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:130648819C>T	ENST00000539839.1	+	1	1816	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W	FZD10_ENST00000229030.4_Silent_p.I444I	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	84					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TGGTGCGTATCGGGCTCTTCT	0.592000													11	42					0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95705442	95705442	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:95705442C>A	ENST00000324972.6	+	15	1827	c.1634C>A	c.(1633-1635)cCt>cAt	p.P545H	DYNC1I1_ENST00000457059.1_Missense_Mutation_p.P528H|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.P508H|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.P508H|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.P528H|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.P525H	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	545					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CCCGTGCATCCTGCGCTTTTT	0.592000											OREG0018174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	72					4.62619e-21	4.85503e-21	1	1	0
SMTN	6525	broad.mit.edu	37	22	31492818	31492818	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:31492818G>A	ENST00000333137.7	+	14	2179	c.1961G>A	c.(1960-1962)aGc>aAc	p.S654N	SMTN_ENST00000358743.1_Missense_Mutation_p.S654N|SMTN_ENST00000404574.1_Intron|SMTN_ENST00000347557.2_Missense_Mutation_p.S654N	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	654					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						ACGAGGCACAGCCAGCGGGCA	0.692000													5	125					0	0	1	0	0
TPPP	11076	broad.mit.edu	37	5	666151	666151	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:666151G>T	ENST00000360578.5	-	3	520	c.399C>A	c.(397-399)agC>agA	p.S133R	CEP72_ENST00000514507.1_3'UTR	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	133					microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CGGCCTCCTCGCTGCTCTTGT	0.632000													5	112					0.184627	0.184969	1	1	0
PCDHA11	0	broad.mit.edu	37	5	140249999	140249999	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140249999G>A	ENST00000398640.2	+	1	1311	c.1311G>A	c.(1309-1311)acG>acA	p.T437T	PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGGCCACGGCCAGGGTAT	0.637000													67	241					0	0	1	0	0
UHRF1	29128	broad.mit.edu	37	19	4929359	4929359	+	RNA	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:4929359C>T	ENST00000592666.1	+	0	855							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		TCTCCGACACCGACTCCGGCT	0.657000													15	36					0	0	1	0	0
CAP2	10486	broad.mit.edu	37	6	17507500	17507500	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:17507500C>T	ENST00000229922.2	+	5	933	c.401C>T	c.(400-402)tCg>tTg	p.S134L	CAP2_ENST00000465994.1_Missense_Mutation_p.S134L|CAP2_ENST00000378990.2_Missense_Mutation_p.S108L|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000489374.1_Intron	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	134					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			AATCATCTTTCGGCCGTCAGC	0.478000													15	65					0	0	1	0	0
LRRC8A	56262	broad.mit.edu	37	9	131671592	131671592	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:131671592G>A	ENST00000259324.5	+	3	2672	c.2149G>A	c.(2149-2151)Gcc>Acc	p.A717T	LRRC8A_ENST00000372600.4_Missense_Mutation_p.A717T|LRRC8A_ENST00000372599.3_Missense_Mutation_p.A717T	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	717					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						AGCCATCACGGCCAACCGGGT	0.672000													29	86					0	0	1	0	0
RPN1	6184	broad.mit.edu	37	3	128344415	128344415	+	Missense_Mutation	SNP	C	C	T	rs1126829	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:128344415C>T	ENST00000296255.3	-	8	1405	c.1357G>A	c.(1357-1359)Gtt>Att	p.V453I	RPN1_ENST00000497289.1_Missense_Mutation_p.V281I	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	453					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		TAGATGATAACGGTGAAGAAC	0.517000			T	EVI1	AML								52	176					0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	88365930	88365930	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:88365930G>A	ENST00000518476.1	+	10	1270	c.1219G>A	c.(1219-1221)Gtc>Atc	p.V407I		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	407								p.V407I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TGAGATTAGCGTCCTTCTTCA	0.323000													19	52					0	0	1	0	0
LRRC8C	84230	broad.mit.edu	37	1	90180448	90180448	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:90180448C>T	ENST00000370454.4	+	3	2574	c.2319C>T	c.(2317-2319)gaC>gaT	p.D773D	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	773						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AACTGGGTGACTGTCGGGCTC	0.413000													17	61					0	0	1	0	0
TMEM120B	144404	broad.mit.edu	37	12	122213655	122213655	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:122213655G>A	ENST00000540377.1	+	6	553	c.157G>A	c.(157-159)Gga>Aga	p.G53R	TMEM120B_ENST00000449592.2_3'UTR			A0PK00	T120B_HUMAN	transmembrane protein 120B	0						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		CCCTCGGCCCGGACTTCAGAC	0.667000											OREG0022207	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	29					0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100243916	100243916	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:100243916G>A	ENST00000160382.5	-	13	1262	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	386					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton	p.R386C(1)		endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTGAACTTGCGCTCCATGGTG	0.607000													7	34					0	0	1	0	0
PHF5A	84844	broad.mit.edu	37	22	41863582	41863582	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:41863582C>T	ENST00000216252.3	-	3	184	c.113G>A	c.(112-114)cGt>cAt	p.R38H	PHF5A_ENST00000491254.1_5'UTR	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN	PHD finger protein 5A	38					nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(1)	4						AGTGCAGGGACGCACATAGGA	0.502000													21	50					0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113547964	113547964	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:113547964G>A	ENST00000416899.2	+	11	1846	c.1720G>A	c.(1720-1722)Gga>Aga	p.G574R	MUSK_ENST00000189978.5_Missense_Mutation_p.G582R|MUSK_ENST00000374438.1_Missense_Mutation_p.G98R|MUSK_ENST00000374448.4_Missense_Mutation_p.G582R			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	582					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GAGAGACATCGGAGAGGGAGC	0.428000													9	104					0	0	1	0	0
MGAT3	4248	broad.mit.edu	37	22	39883622	39883622	+	Silent	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:39883622C>A	ENST00000341184.6	+	2	485	c.270C>A	c.(268-270)gcC>gcA	p.A90A		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	90					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GCAAGGCGGCCGAGGAGCTCC	0.701000													5	110					0.0215528	0.0217133	1	1	0
FAM90A1	55138	broad.mit.edu	37	12	8375299	8375299	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:8375299C>T	ENST00000538603.1	-	7	1072	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	FAM90A1_ENST00000307435.6_Missense_Mutation_p.E172K	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	172							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TCAGACATTTCGGTAGCTGAG	0.552000													20	58					0	0	1	0	0
RPP38	10557	broad.mit.edu	37	10	15145385	15145385	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:15145385G>A	ENST00000378197.4	+	3	586	c.72G>A	c.(70-72)tcG>tcA	p.S24S	RPP38_ENST00000378202.5_Silent_p.S24S|NMT2_ENST00000466201.1_5'UTR|RPP38_ENST00000451677.1_Intron	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	24				S -> A (in Ref. 1; AA sequence).	tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						TGAAGACGTCGTTGAACAACC	0.512000													27	67					0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20429586	20429586	+	Missense_Mutation	SNP	G	G	A	rs142598719	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:20429586G>A	ENST00000331849.4	+	3	557	c.410G>A	c.(409-411)cGg>cAg	p.R137Q	ACSM5_ENST00000575584.1_Missense_Mutation_p.R137Q	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	137					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.R137Q(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GCTTGCATGCGGACAGGTCAG	0.567000													12	18					0	0	1	0	0
GLCE	26035	broad.mit.edu	37	15	69561011	69561011	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:69561011C>T	ENST00000261858.2	+	5	1510	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	GLCE_ENST00000559420.2_Missense_Mutation_p.R364C	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	428					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						TATGGTGACCCGTAAGTTAGG	0.488000													6	81					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088044	86088044	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:86088044G>A	ENST00000330753.4	+	2	953	c.186G>A	c.(184-186)ccG>ccA	p.P62P	FLRT2_ENST00000554746.1_Silent_p.P62P	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	62	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTGGGATCCCGGAGGGCGTAA	0.517000													47	102					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56572381	56572381	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:56572381C>T	ENST00000323456.5	-	16	3246	c.3122G>A	c.(3121-3123)cGa>cAa	p.R1041Q	MTMR4_ENST00000579925.1_Missense_Mutation_p.R984Q	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1041						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACGCACCTGTCGACGTAGCTG	0.527000													19	36					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30723339	30723339	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:30723339T>A	ENST00000361762.2	+	1	1303	c.295T>A	c.(295-297)Tgt>Agt	p.C99S	PCDH7_ENST00000543491.1_Missense_Mutation_p.C99S	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	99	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GCTGCCCCAGTGTCAGATGAT	0.602000													14	23					0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105362575	105362575	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:105362575C>T	ENST00000369774.4	-	15	2676	c.2400G>A	c.(2398-2400)tcG>tcA	p.S800S	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Silent_p.S667S|SH3PXD2A_ENST00000538130.1_Silent_p.S635S|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Silent_p.S772S			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	800					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)		GGGGCAGCTCCGAATCCTCAC	0.637000													88	196					0	0	1	0	0
CHRNA6	8973	broad.mit.edu	37	8	42611381	42611381	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:42611381T>C	ENST00000276410.2	-	5	1316	c.961A>G	c.(961-963)Act>Gct	p.T321A	CHRNA6_ENST00000534622.1_Missense_Mutation_p.T306A	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	321						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ACAAACACAGTCACCACGATG	0.537000													6	98					0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72462205	72462205	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:72462205C>T	ENST00000373208.1	+	3	660	c.660C>T	c.(658-660)gaC>gaT	p.D220D	ADAMTS14_ENST00000373207.1_Silent_p.D220D	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	220					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CAGAACCTGACGGGGACCTGC	0.617000													4	65					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45513865	45513865	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:45513865C>T	ENST00000361462.2	+	13	4129	c.3946C>T	c.(3946-3948)Cgt>Tgt	p.R1316C	FAM179B_ENST00000361577.3_Missense_Mutation_p.R1316C|FAM179B_ENST00000382233.2_3'UTR			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1316							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TGGAGTTTCTCGTGCTGCTGT	0.338000													11	40					0	0	1	0	0
FHL5	9457	broad.mit.edu	37	6	97058503	97058503	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:97058503T>C	ENST00000326771.2	+	6	940	c.560T>C	c.(559-561)tTt>tCt	p.F187S	FHL5_ENST00000541107.1_Missense_Mutation_p.F187S	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	187	LIM zinc-binding 3.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		AAAGAGTGTTTTCTGTGTAGT	0.448000													60	145					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23707241	23707241	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:23707241G>A	ENST00000256797.4	-	14	1896	c.1728C>T	c.(1726-1728)cgC>cgT	p.R576R	ERN2_ENST00000457008.2_Silent_p.R476R	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	528	Protein kinase.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CGCCTGCCCCGCGGCCCAGCA	0.637000													8	24					0	0	1	0	0
CSNK1G1	53944	broad.mit.edu	37	15	64506280	64506280	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:64506280C>T	ENST00000303052.7	-	6	911	c.488G>A	c.(487-489)cGa>cAa	p.R163Q	CSNK1G1_ENST00000607537.1_Missense_Mutation_p.R163Q|CSNK1G1_ENST00000303032.6_Missense_Mutation_p.R163Q|CTD-2116N17.1_ENST00000606793.1_Missense_Mutation_p.R145Q	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	163	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						CTTGACATCTCGGTAAATGAG	0.383000													44	102					0	0	1	0	0
HERC3	8916	broad.mit.edu	37	4	89577167	89577167	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:89577167C>T	ENST00000402738.1	+	9	1289	c.1050C>T	c.(1048-1050)ggC>ggT	p.G350G	HERC3_ENST00000264345.3_Silent_p.G350G|HERC3_ENST00000407637.1_Silent_p.G350G	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	350					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		CCCACAGTGGCCAGCTTTCAG	0.423000													9	70					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28654830	28654830	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:28654830G>A	ENST00000280904.6	-	12	2150	c.1707C>T	c.(1705-1707)gaC>gaT	p.D569D	DSC2_ENST00000251081.6_Silent_p.D569D	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	569	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TATCATTCACGTCTTGAAGTA	0.398000													15	27					0	0	1	0	0
C5orf22	55322	broad.mit.edu	37	5	31538687	31538687	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:31538687C>T	ENST00000325366.9	+	4	825	c.698C>T	c.(697-699)gCc>gTc	p.A233V	C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	233										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						CAGACTGCTGCCAGCACTGGG	0.408000													9	27					0	0	1	0	0
MMP21	118856	broad.mit.edu	37	10	127462562	127462562	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:127462562G>A	ENST00000368808.3	-	2	534	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	179					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CCCAGCAGCCGCCAGCTCAGC	0.731000													9	18					0	0	1	0	0
MYLIP	29116	broad.mit.edu	37	6	16143929	16143929	+	Splice_Site	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:16143929G>T	ENST00000349606.4	+	4	623		c.e4-1		MYLIP_ENST00000356840.3_Splice_Site			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein						cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			CTGTCTCTTAGGATAGCTTAT	0.453000													7	90					8.12818e-05	8.30472e-05	1	1	0
TAP2	6891	broad.mit.edu	37	6	32805336	32805336	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:32805336T>C	ENST00000374897.2	-	3	717	c.586A>G	c.(586-588)Atg>Gtg	p.M196V	TAP2_ENST00000374899.4_Missense_Mutation_p.M196V|TAP2_ENST00000452392.2_Missense_Mutation_p.M196V	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	196	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										AAGAGGCACATGAAGAAGATG	0.493000													15	21					0	0	1	0	0
MGP	4256	broad.mit.edu	37	12	15035143	15035143	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:15035143C>T	ENST00000539261.1	-	4	376	c.242G>A	c.(241-243)cGc>cAc	p.R81H	MGP_ENST00000228938.5_Missense_Mutation_p.R106H|C12orf60_ENST00000527783.1_Intron	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	81	Gla.				cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						CATGGCGTAGCGTTCGCAAAG	0.463000													13	208					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153913419	153913419	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:153913419C>T	ENST00000361217.4	-	9	1705	c.1287G>A	c.(1285-1287)cgG>cgA	p.R429R		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	429	DENN.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCAGGTCTGGCCGCAGCGAGT	0.637000													7	15					0	0	1	0	0
FZR1	51343	broad.mit.edu	37	19	3525878	3525878	+	Missense_Mutation	SNP	C	C	T	rs150420576		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:3525878C>T	ENST00000441788.2	+	3	318	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W	FZR1_ENST00000395095.3_Missense_Mutation_p.R28W|FZR1_ENST00000313639.8_Missense_Mutation_p.R28W	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	28					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CACAGAGATGCGGCGGACCCT	0.662000													21	39					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126373019	126373019	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:126373019G>A	ENST00000394329.3	+	9	10861	c.10848G>A	c.(10846-10848)acG>acA	p.T3616T	FAT4_ENST00000335110.5_Silent_p.T1914T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3616	Cadherin 34.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGTCTCGGACGGTGGAGATAT	0.438000													6	98					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11082852	11082852	+	Missense_Mutation	SNP	G	G	A	rs139037354		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:11082852G>A	ENST00000304623.8	-	16	2933	c.2744C>T	c.(2743-2745)gCg>gTg	p.A915V	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.A857V|CTNND2_ENST00000503622.1_Missense_Mutation_p.A578V|CTNND2_ENST00000511377.1_Missense_Mutation_p.A824V|CTNND2_ENST00000458100.2_Missense_Mutation_p.A482V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	915					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTTCCGCAGCGCAGTGGCCAC	0.512000													23	83					0	0	1	0	0
TEX13A	56157	broad.mit.edu	37	X	104464233	104464233	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:104464233C>A	ENST00000413579.1	-	5	754	c.643G>T	c.(643-645)Gag>Tag	p.E215*	TEX13A_ENST00000372578.3_Missense_Mutation_p.W215C|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.W215C			Q9BXU3	TX13A_HUMAN	testis expressed 13A	215						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GCCCCAGCCTCCACAGGGGGA	0.637000													17	9					4.14922e-12	4.32094e-12	1	1	0
TGFB2	7042	broad.mit.edu	37	1	218614599	218614599	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:218614599C>T	ENST00000366929.4	+	8	1691	c.1224C>T	c.(1222-1224)tgC>tgT	p.C408C	TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366930.4_Silent_p.C380C	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	380					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	p.C408C(1)|p.C380C(1)		breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		CTCCTTGCTGCGTGTCCCAAG	0.408000													4	125					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6161936	6161936	+	Silent	SNP	C	C	T	rs147033167		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:6161936C>T	ENST00000261405.5	-	16	2213	c.1959G>A	c.(1957-1959)ccG>ccA	p.P653P		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	653	TIL 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCTGGCCTTTCGGGCAGTTCA	0.582000													9	18					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87041173	87041173	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:87041173C>T	ENST00000370563.3	+	11	1884	c.1842C>T	c.(1840-1842)taC>taT	p.Y614Y	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	614						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TGATTGTTTACGCAGAAATTC	0.398000													30	93					0	0	1	0	0
PCK2	5106	broad.mit.edu	37	14	24566322	24566322	+	Missense_Mutation	SNP	G	G	A	rs112490159		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:24566322G>A	ENST00000216780.4	+	2	519	c.251G>A	c.(250-252)cGa>cAa	p.R84Q	PCK2_ENST00000559250.1_Missense_Mutation_p.R96Q|PCK2_ENST00000561286.1_Intron|NRL_ENST00000561028.1_Intron|PCK2_ENST00000396973.4_Missense_Mutation_p.R84Q|PCK2_ENST00000558096.1_5'UTR|PCK2_ENST00000545054.2_5'UTR	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	84					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GGCCTCATCCGAAAGCTCCCC	0.547000													24	53					0	0	1	0	0
GMDS	2762	broad.mit.edu	37	6	2124953	2124953	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:2124953G>C	ENST00000380815.4	-	2	384	c.115C>G	c.(115-117)Ctg>Gtg	p.L39V	GMDS_ENST00000530927.1_Missense_Mutation_p.L9V	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	39					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		AACTCAGCCAGGTAGGAACCA	0.502000													9	14					0	0	1	0	0
BCS1L	617	broad.mit.edu	37	2	219525928	219525928	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:219525928G>A	ENST00000431802.1	+	2	917	c.218G>A	c.(217-219)cGt>cAt	p.R73H	BCS1L_ENST00000392110.2_Missense_Mutation_p.R73H|BCS1L_ENST00000359273.3_Missense_Mutation_p.R73H|BCS1L_ENST00000392109.1_Missense_Mutation_p.R73H|BCS1L_ENST00000392111.2_Missense_Mutation_p.R73H|BCS1L_ENST00000439945.1_Missense_Mutation_p.R73H|BCS1L_ENST00000412366.1_Missense_Mutation_p.R73H			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	73			R -> C (in MT-C3D).		mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACAGTACCCGTACTCAGCAC	0.537000													6	159					0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50905529	50905529	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:50905529C>T	ENST00000440232.2	+	6	710	c.657C>T	c.(655-657)ctC>ctT	p.L219L	POLD1_ENST00000595904.1_Silent_p.L219L|POLD1_ENST00000599857.1_Silent_p.L219L	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	219					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TGCCGCGCCTCGTGGCCCCGG	0.687000								DNA polymerases (catalytic subunits)					9	71					0	0	1	0	0
CMBL	134147	broad.mit.edu	37	5	10290659	10290659	+	Splice_Site	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:10290659C>T	ENST00000296658.3	-	2	636		c.e2+1		CMBL_ENST00000510532.1_Splice_Site	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)							cytosol	hydrolase activity|protein binding			endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						TTTATACATACGTGTATCCAT	0.348000													30	63					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26741909	26741909	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:26741909G>A	ENST00000272371.2	-	4	422	c.296C>T	c.(295-297)aCg>aTg	p.T99M	OTOF_ENST00000403946.3_Missense_Mutation_p.T99M	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	99					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.T99M(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCAATCAGCGTGTCAGTCAC	0.577000													4	6					0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55193500	55193500	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:55193500G>A	ENST00000337714.3	+	7	2543	c.2310G>A	c.(2308-2310)gcG>gcA	p.A770A	AKAP1_ENST00000571629.1_Silent_p.A770A|AKAP1_ENST00000539273.1_Silent_p.A770A|AKAP1_ENST00000572557.1_Silent_p.A770A	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	770	Tudor.				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CCCCTGGTGCGGACGGGGCCT	0.632000													21	26					0	0	1	0	0
TAF7L	54457	broad.mit.edu	37	X	100532632	100532632	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:100532632G>A	ENST00000372907.3	-	9	922	c.911C>T	c.(910-912)tCg>tTg	p.S304L	TAF7L_ENST00000372905.2_Missense_Mutation_p.S218L|TAF7L_ENST00000324762.6_Missense_Mutation_p.S218L|TAF7L_ENST00000356784.1_Missense_Mutation_p.S218L	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	304					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GCTCATTCCCGAGGATATCAA	0.468000													5	133					0	0	1	0	0
NUBPL	80224	broad.mit.edu	37	14	32142777	32142777	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:32142777G>A	ENST00000281081.7	+	6	555	c.510G>A	c.(508-510)agG>agA	p.R170R	NUBPL_ENST00000536705.1_Silent_p.R74R	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	170					mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding			endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		AATTGTTGAGGCAGGTAAGAA	0.368000													5	67					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22161191	22161191	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:22161191G>A	ENST00000374695.3	-	77	10780	c.10701C>T	c.(10699-10701)caC>caT	p.H3567H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3567	Ig-like C2-type 21.				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)	GCAGCAGGACGTGGGATTGTG	0.622000													16	29					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33577720	33577720	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:33577720G>A	ENST00000262873.7	+	18	1983	c.1891G>A	c.(1891-1893)Gtg>Atg	p.V631M		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	589	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CTACGCAGGCGTGGTAGGTGC	0.647000													14	33					0	0	1	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73316367	73316367	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:73316367G>A	ENST00000258098.6	-	2	748	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	170					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						AGGTTGTTGCGCGTGAACTGG	0.537000													14	331					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228557668	228557668	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:228557668G>A	ENST00000570156.2	+	102	22938	c.22864G>A	c.(22864-22866)Ggc>Agc	p.G7622S	OBSCN_ENST00000422127.1_Missense_Mutation_p.G6665S|OBSCN_ENST00000366707.4_Missense_Mutation_p.G4299S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6665	Fibronectin type-III 4.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCATTTGCCGGCGAGAGTGA	0.622000													16	52					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	87967875	87967875	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:87967875G>A	ENST00000307808.6	+	3	587	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Missense_Mutation_p.R63Q	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	56						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CTGTCTAGTCGAATACAGAAC	0.373000													58	184					0	0	1	0	0
PLEKHA4	0	broad.mit.edu	37	19	49363681	49363681	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:49363681G>A	ENST00000263265.6	-	6	957	c.402C>T	c.(400-402)gcC>gcT	p.A134A	PLEKHA4_ENST00000355496.5_Silent_p.A134A	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	134	PH.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		AGGTGTCAGCGGCCAAAACGT	0.652000													30	76					0	0	1	0	0
SPTBN1	0	broad.mit.edu	37	2	54876764	54876764	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:54876764C>T	ENST00000333896.5	+	25	5561	c.5176C>T	c.(5176-5178)Cga>Tga	p.R1726*	SPTBN1_ENST00000356805.4_Nonsense_Mutation_p.R1739*	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1739	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GTTACAAGAACGATTCCGGGA	0.498000													4	17					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117310075	117310075	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:117310075G>A	ENST00000321322.6	-	23	4232	c.4231C>T	c.(4231-4233)Cgt>Tgt	p.R1411C	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1141C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1351	Fibronectin type-III 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TTCACTGCACGCAGCAGCAGT	0.607000													25	65					0	0	1	0	0
ICMT	23463	broad.mit.edu	37	1	6285255	6285255	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:6285255C>T	ENST00000343813.5	-	5	768	c.740G>A	c.(739-741)cGa>cAa	p.R247Q		NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	247					protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		TTCTTCTGTTCGATCGCGGAA	0.522000													27	99					0	0	1	0	0
NR4A2	0	broad.mit.edu	37	2	157186312	157186312	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:157186312C>T	ENST00000339562.4	-	3	749	c.387G>A	c.(385-387)acG>acA	p.T129T	NR4A2_ENST00000429376.1_Silent_p.T66T|NR4A2_ENST00000539077.1_Silent_p.T140T|NR4A2_ENST00000426264.1_Silent_p.T66T|NR4A2_ENST00000409572.1_Silent_p.T129T|NR4A2_ENST00000409108.2_Silent_p.T129T	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	129	Gln-rich.|Pro-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GGGTGGTGGGCGTCGGGGGCG	0.627000													44	112					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32500781	32500781	+	Silent	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:32500781T>C	ENST00000266088.4	+	14	1924	c.1674T>C	c.(1672-1674)cgT>cgC	p.R558R	SLC5A1_ENST00000543737.1_Silent_p.R431R	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	558					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						AGCTCTACCGTCTGTGTTGGA	0.502000													12	39					0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38829422	38829422	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:38829422G>A	ENST00000310301.4	-	10	817	c.763C>T	c.(763-765)Cca>Tca	p.P255S	VPS41_ENST00000395969.2_Missense_Mutation_p.P230S|VPS41_ENST00000466017.1_5'UTR	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	255					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TATCGACTTGGCAAATCCCTC	0.393000													29	72					0	0	1	0	0
AIFM2	84883	broad.mit.edu	37	10	71883673	71883673	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:71883673G>A	ENST00000307864.1	-	2	381	c.168C>T	c.(166-168)tcC>tcT	p.S56S	AIFM2_ENST00000373248.1_Silent_p.S56S	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	56					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CTGTCTCCACGGAGGCTCGGA	0.602000													9	24					0	0	1	0	0
PLCD4	84812	broad.mit.edu	37	2	219494309	219494309	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:219494309G>A	ENST00000450993.2	+	8	1381	c.1042G>A	c.(1042-1044)Gtt>Att	p.V348I	PLCD4_ENST00000432688.1_Missense_Mutation_p.V348I|PLCD4_ENST00000417849.1_Missense_Mutation_p.V348I	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	348	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGAACCTGTCGTTTACCACGG	0.592000													12	35					0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116692116	116692116	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:116692116G>A	ENST00000357780.3	-	3	772	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		AGGCTGCGGCGCAGCTCCTCC	0.582000													6	188					0	0	1	0	0
ZNF33B	7582	broad.mit.edu	37	10	43088126	43088126	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:43088126A>G	ENST00000359467.3	-	5	2386	c.2272T>C	c.(2272-2274)Ttc>Ctc	p.F758L	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	758						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TTTTGAGAGAAGGTTTTCCTG	0.373000													4	155					0	0	1	0	0
HTR6	3362	broad.mit.edu	37	1	20005666	20005666	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:20005666G>A	ENST00000289753.1	+	3	1595	c.1128G>A	c.(1126-1128)ccG>ccA	p.P376P		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	376					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	CCCTGCCGCCGGACTCAGATT	0.736000													6	15					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49444729	49444729	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:49444729C>T	ENST00000301067.7	-	10	2736	c.2737G>A	c.(2737-2739)Gag>Aag	p.E913K		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGCAGCTCCTCGGGCAGAGGG	0.597000													4	129					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32059348	32059348	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:32059348C>T	ENST00000438447.1	+	13	2592	c.2204C>T	c.(2203-2205)cCa>cTa	p.P735L	PDZD2_ENST00000282493.3_Missense_Mutation_p.P735L			O15018	PDZD2_HUMAN	PDZ domain containing 2	735	PDZ 4.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTCACAGAGCCAAGAGTTGGA	0.408000													5	20					0	0	1	0	0
ROCK1	6093	broad.mit.edu	37	18	18546946	18546946	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:18546946A>G	ENST00000399799.1	-	27	4224	c.3284T>C	c.(3283-3285)tTg>tCg	p.L1095S		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1095					actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CGAGAGGTCCAAAAGTTTAGC	0.398000													9	109					0	0	1	0	0
PVALB	5816	broad.mit.edu	37	22	37211239	37211239	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:37211239G>A	ENST00000216200.5	-	3	157	c.102C>T	c.(100-102)gtC>gtT	p.V34V	PVALB_ENST00000404171.1_Silent_p.V2V|PVALB_ENST00000417718.2_Silent_p.V34V	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN	parvalbumin	34							calcium ion binding			large_intestine(1)|lung(1)|skin(1)	3						TCTTCAGGCCGACCATTTGGA	0.527000													17	46					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62451122	62451122	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:62451122C>T	ENST00000383710.4	-	26	3905	c.3556G>A	c.(3556-3558)Gtt>Att	p.V1186I	CADPS_ENST00000462768.1_5'UTR|CADPS_ENST00000283269.9_Missense_Mutation_p.V1147I|CADPS_ENST00000357948.3_Missense_Mutation_p.V1107I	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1186	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AAGATAGTAACGAACTAGAAA	0.353000													32	77					0	0	1	0	0
SPACA7	122258	broad.mit.edu	37	13	113053404	113053404	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:113053404A>G	ENST00000375699.3	+	3	345	c.173A>G	c.(172-174)cAa>cGa	p.Q58R	SPACA7_ENST00000283550.3_Missense_Mutation_p.Q89R			Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	89						extracellular region				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						GAGAATTATCAAGCTGGTGGT	0.353000													4	28					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	83635352	83635352	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:83635352C>T	ENST00000404547.1	+	1	256	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F	NRG3_ENST00000372141.2_Missense_Mutation_p.L86F			P56975	NRG3_HUMAN	neuregulin 3	86					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CCTCATGCTTCTCAAATGGAT	0.612000													17	42					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25029157	25029157	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:25029157G>A	ENST00000381989.3	-	22	2861	c.2756C>T	c.(2755-2757)aCa>aTa	p.T919I		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	919	VWFA.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GCACTCACCTGTGCCGAACTG	0.532000													44	97					0	0	1	0	0
SPECC1L	23384	broad.mit.edu	37	22	24807598	24807598	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:24807598C>T	ENST00000314328.9	+	15	3415	c.3130C>T	c.(3130-3132)Ctg>Ttg	p.L1044L	KB-1896H10.1_ENST00000358654.2_3'UTR|SPECC1L_ENST00000541492.1_Intron|SPECC1L_ENST00000437398.1_Silent_p.L1044L	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	1044	CH.				cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						GAATGATGGGCTGGCCTTCTG	0.493000													13	114					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38597179	38597179	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:38597179G>A	ENST00000222345.6	+	7	2541	c.2032G>A	c.(2032-2034)Gac>Aac	p.D678N		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	678	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGTTTCAGCCGACTCCACGGG	0.507000													26	87					0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69795695	69795695	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:69795695G>T	ENST00000251566.4	-	6	1450	c.1420C>A	c.(1420-1422)Ctg>Atg	p.L474M	UGT2A3_ENST00000420231.2_Missense_Mutation_p.L185M	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	474						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCTGATCGCAGGTGCTTGGCT	0.488000													41	91					4.67007e-22	4.9106e-22	1	1	0
SMC1B	27127	broad.mit.edu	37	22	45740517	45740517	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:45740517G>A	ENST00000357450.4	-	25	3627	c.3628C>T	c.(3628-3630)Cga>Tga	p.R1210*	SMC1B_ENST00000404354.3_Nonsense_Mutation_p.R1136*	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	1210					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GTCAAAACTCGGCTGAACATG	0.448000													51	104					0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71861684	71861684	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:71861684C>T	ENST00000377245.4	+	18	2853	c.2645C>T	c.(2644-2646)gCg>gTg	p.A882V	TJP2_ENST00000265384.7_Missense_Mutation_p.A882V|TJP2_ENST00000498204.1_3'UTR|TJP2_ENST00000453658.2_Missense_Mutation_p.A859V|TJP2_ENST00000348208.4_Missense_Mutation_p.A882V|TJP2_ENST00000539225.1_Missense_Mutation_p.A913V|TJP2_ENST00000535702.1_Missense_Mutation_p.A886V	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	882					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CAAGGAGAAGCGGTTTGGGTC	0.418000													18	69					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55984794	55984794	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:55984794G>A	ENST00000263923.4	-	3	630	c.335C>T	c.(334-336)tCg>tTg	p.S112L		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	112					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	ATAAATGACCGAGGCCAAGTC	0.418000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			8	59					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50408260	50408260	+	Silent	SNP	G	G	A	rs141546409	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:50408260G>A	ENST00000217086.4	-	2	873	c.762C>T	c.(760-762)gcC>gcT	p.A254A	SALL4_ENST00000395997.3_Silent_p.A254A|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	254					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCAGAGTGTCGGCCCCTGCCC	0.602000													19	48					0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	120008242	120008242	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:120008242G>A	ENST00000341846.5	-	1	919	c.498C>T	c.(496-498)tcC>tcT	p.S166S		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	166					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CCTCGGAGCCGGACTTGGACC	0.657000													5	125					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214170044	214170044	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:214170044T>C	ENST00000366958.4	+	2	774	c.166T>C	c.(166-168)Tat>Cat	p.Y56H	PROX1_ENST00000498508.2_Missense_Mutation_p.Y56H|PROX1_ENST00000261454.4_Missense_Mutation_p.Y56H|PROX1_ENST00000435016.1_Missense_Mutation_p.Y56H	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	56					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GGATGTTGAGTATTCAGTGGT	0.478000													6	85					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366442	248366442	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:248366442A>G	ENST00000456743.1	+	1	111	c.73A>G	c.(73-75)Acc>Gcc	p.T25A		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCCCACCCACACCTTCCTCTT	0.512000													104	246					0	0	1	0	0
TMEM171	134285	broad.mit.edu	37	5	72419582	72419582	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:72419582G>A	ENST00000454765.2	+	2	855	c.382G>A	c.(382-384)Gtc>Atc	p.V128I	TMEM171_ENST00000287773.5_Missense_Mutation_p.V128I			Q8WVE6	TM171_HUMAN	transmembrane protein 171	128						integral to membrane				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		GCTCATCAGCGTCCTGGGCAT	0.587000													6	162					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32234677	32234677	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:32234677C>T	ENST00000400246.1	+	27	2503	c.2361C>T	c.(2359-2361)gaC>gaT	p.D787D	DEPDC5_ENST00000266091.3_Silent_p.D787D|DEPDC5_ENST00000400248.1_Silent_p.D778D|DEPDC5_ENST00000400249.2_Silent_p.D778D|DEPDC5_ENST00000382105.2_Silent_p.D709D|DEPDC5_ENST00000382111.2_Silent_p.D787D|DEPDC5_ENST00000382112.3_Silent_p.D778D|DEPDC5_ENST00000535622.1_Silent_p.D709D			O75140	DEPD5_HUMAN	DEP domain containing 5	778					intracellular signal transduction			p.D778D(1)|p.D709D(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCAGGAGGGACGAAGATGGTG	0.483000													34	81					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39788607	39788607	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:39788607C>T	ENST00000564288.1	+	33	4940	c.4163C>T	c.(4162-4164)aCg>aTg	p.T1388M	MACF1_ENST00000545844.1_Missense_Mutation_p.T1393M|MACF1_ENST00000361689.2_Missense_Mutation_p.T1393M|MACF1_ENST00000567887.1_Missense_Mutation_p.T1425M|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.T1393M|MACF1_ENST00000372915.3_Missense_Mutation_p.T1393M|MACF1_ENST00000317713.7_Missense_Mutation_p.T1393M			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1393					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACTCGCTACACGGCATTGGTG	0.418000													9	226					0	0	1	0	0
CD7	924	broad.mit.edu	37	17	80274164	80274164	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:80274164C>T	ENST00000584284.1	-	3	600	c.519G>A	c.(517-519)ccG>ccA	p.P173P	CD7_ENST00000583376.1_Silent_p.P73P|CD7_ENST00000578509.1_Silent_p.P73P|CD7_ENST00000312648.3_Silent_p.P173P			P09564	CD7_HUMAN	CD7 molecule	173	4 X 9 AA tandem repeats, potential spacer function.				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			AGGCTGCTGGCGGGTCAGGGA	0.716000													3	9					0	0	1	0	0
ADH6	130	broad.mit.edu	37	4	100134802	100134802	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:100134802C>T	ENST00000394897.1	-	3	305	c.223G>A	c.(223-225)Gtt>Att	p.V75I	ADH6_ENST00000237653.7_Missense_Mutation_p.V75I|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Intron|ADH6_ENST00000394899.2_Missense_Mutation_p.V75I			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	75					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	ATACTCTCAACGATTCCAGCC	0.478000													22	66					0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58306166	58306166	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:58306166G>A	ENST00000249750.4	-	3	1020	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R85C|ALDH1A2_ENST00000559517.1_5'UTR|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R56C|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R64C	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	85					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	p.R85S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	AAAGCCAGGCGGGCTGCCTGC	0.498000													86	227					0	0	1	0	0
SMCR7	0	broad.mit.edu	37	17	18167396	18167396	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:18167396C>T	ENST00000323019.4	+	4	894	c.683C>T	c.(682-684)aCg>aTg	p.T228M	SMCR7_ENST00000395704.4_Silent_p.D203D|SMCR7_ENST00000577216.1_3'UTR|SMCR7_ENST00000395706.2_Missense_Mutation_p.T239M	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN		228						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					GTGCGCAGGACGCAGCTTGAG	0.716000													4	6					0	0	1	0	0
H6PD	9563	broad.mit.edu	37	1	9324290	9324290	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:9324290C>T	ENST00000377403.2	+	5	2040	c.1738C>T	c.(1738-1740)Cgg>Tgg	p.R580W	H6PD_ENST00000602477.1_Missense_Mutation_p.R591W	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	580	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GCGAGCCGTGCGGCGCTTTGG	0.677000													11	23					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61557710	61557710	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:61557710C>T	ENST00000290866.4	+	5	692	c.668C>T	c.(667-669)aCg>aTg	p.T223M	ACE_ENST00000428043.1_Missense_Mutation_p.T223M|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Missense_Mutation_p.T223M	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	223	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TTCACAGACACGGGGGCCTAC	0.612000													19	44					0	0	1	0	0
CCER1	196477	broad.mit.edu	37	12	91348186	91348186	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:91348186A>G	ENST00000358859.2	-	1	767	c.334T>C	c.(334-336)Tat>Cat	p.Y112H	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		TGCAGGCCATACACCCGAAAC	0.662000													14	40					0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147889133	147889133	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:147889133C>T	ENST00000360693.3	-	6	1100	c.962G>A	c.(961-963)cGt>cAt	p.R321H	HTR4_ENST00000314512.6_Missense_Mutation_p.R321H|HTR4_ENST00000362016.2_Missense_Mutation_p.R335H|HTR4_ENST00000521530.1_Missense_Mutation_p.R321H|HTR4_ENST00000521735.1_Missense_Mutation_p.R321H|HTR4_ENST00000354217.2_Missense_Mutation_p.R321H|HTR4_ENST00000517929.1_Missense_Mutation_p.R321H|HTR4_ENST00000520514.1_Missense_Mutation_p.R321H|HTR4_ENST00000377888.3_Missense_Mutation_p.R321H	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	321					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GAGGAAGGCACGTCTAAAAGA	0.502000													20	54					0	0	1	0	0
PAQR7	164091	broad.mit.edu	37	1	26189723	26189723	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:26189723C>T	ENST00000374296.3	-	2	1274	c.608G>A	c.(607-609)cGc>cAc	p.R203H	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	203					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGCATGTGCGGCCCAGCAG	0.582000													27	58					0	0	1	0	0
SORBS3	10174	broad.mit.edu	37	8	22415670	22415670	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:22415670G>A	ENST00000240123.7	+	5	826	c.443G>A	c.(442-444)cGg>cAg	p.R148Q	SORBS3_ENST00000523402.1_Missense_Mutation_p.R148Q	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	148	SoHo.				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GACTGGTACCGGAGAATGTTC	0.517000													26	80					0	0	1	0	0
FILIP1L	11259	broad.mit.edu	37	3	99569644	99569644	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:99569644C>A	ENST00000331335.5	-	5	1346	c.876G>T	c.(874-876)gaG>gaT	p.E292D	FILIP1L_ENST00000354552.3_Missense_Mutation_p.E292D|FILIP1L_ENST00000487087.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.E52D|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.E52D	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	292						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GCAGTTCCTTCTCTAGTCTGG	0.463000													98	265					1.77424e-55	1.87108e-55	1	1	0
PITRM1	10531	broad.mit.edu	37	10	3189816	3189816	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:3189816C>T	ENST00000380989.2	-	19	2224	c.2186G>A	c.(2185-2187)cGg>cAg	p.R729Q	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380994.1_Missense_Mutation_p.R286Q|PITRM1_ENST00000464395.1_5'UTR|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.R630Q|PITRM1_ENST00000224949.4_Missense_Mutation_p.R728Q	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	630					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CGTGAGGGTCCGGCCTGCCCT	0.582000													46	150					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111927206	111927206	+	Missense_Mutation	SNP	C	C	T	rs142600000		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:111927206C>T	ENST00000305815.5	-	16	2057	c.1805G>A	c.(1804-1806)cGt>cAt	p.R602H	SLC9C1_ENST00000487372.1_Missense_Mutation_p.R554H	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	602	Ion transport-like.				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	p.R602H(1)									ATGGCATATACGAAAAAAGAA	0.274000													5	68					0	0	1	0	0
FAM73B	84895	broad.mit.edu	37	9	131832160	131832160	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:131832160C>T	ENST00000358369.4	+	15	1717	c.1491C>T	c.(1489-1491)tcC>tcT	p.S497S	FAM73B_ENST00000277475.5_3'UTR|FAM73B_ENST00000406926.2_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	497						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						ATTTCTACTCCGTATCGGAGC	0.592000													73	156					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112708216	112708216	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:112708216C>T	ENST00000550722.1	-	12	1953	c.1558G>A	c.(1558-1560)Gtt>Att	p.V520I	HECTD4_ENST00000430131.2_Missense_Mutation_p.V232I|HECTD4_ENST00000377560.5_Missense_Mutation_p.V482I	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4									p.V482I(1)|p.V232I(1)									ATCGCACCAACGTGGTGCAAT	0.448000													5	229					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233190117	233190117	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:233190117G>A	ENST00000258229.8	-	25	4482	c.4248C>T	c.(4246-4248)ggC>ggT	p.G1416G	PCNXL2_ENST00000344698.2_Silent_p.G68G	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1416						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TAAAGCAATCGCCAGAGCTGT	0.443000													11	36					0	0	1	0	0
LZTS1	11178	broad.mit.edu	37	8	20107641	20107641	+	Silent	SNP	C	C	T	rs35939758		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:20107641C>T	ENST00000381569.1	-	4	1740	c.1383G>A	c.(1381-1383)gcG>gcA	p.A461A	LZTS1_ENST00000265801.6_Silent_p.A461A|LZTS1_ENST00000522290.1_Silent_p.A461A			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	461					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GCAGCAGCTCCGCCTCGTTCT	0.701000													61	149					0	0	1	0	0
FAM173B	134145	broad.mit.edu	37	5	10227710	10227710	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:10227710C>T	ENST00000280330.8	-	6	659	c.53G>A	c.(52-54)cGa>cAa	p.R18Q	FAM173B_ENST00000511437.1_Missense_Mutation_p.R182Q|FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000510047.1_Missense_Mutation_p.R165Q			Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	182						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						AGCAATAACTCGTGCATCATC	0.478000													18	43					0	0	1	0	0
PCDHA3	0	broad.mit.edu	37	5	140182315	140182315	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140182315C>T	ENST00000522353.2	+	1	1533	c.1533C>T	c.(1531-1533)caC>caT	p.H511H	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.H511H	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCGGTACACGCGGAGAGCG	0.706000													62	185					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131520231	131520231	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:131520231C>T	ENST00000423981.1	+	2	696	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	AMER3_ENST00000321420.4_Missense_Mutation_p.R196W	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		CCCTGGGGGGCGGCGAAGCAA	0.672000													23	55					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73056913	73056913	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:73056913C>T	ENST00000261180.4	+	19	3109	c.3013C>T	c.(3013-3015)Cgc>Tgc	p.R1005C		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	1005					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AGCCAATGTGCGCTGGAAAAT	0.383000													15	36					0	0	1	0	0
MAGT1	84061	broad.mit.edu	37	X	77150899	77150899	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:77150899C>T	ENST00000358075.6	-	1	191	c.105G>A	c.(103-105)gcG>gcA	p.A35A	MAGT1_ENST00000373336.3_Silent_p.A3A	NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	3					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						ACCGCCAACGCGCTGCCATGT	0.567000													16	6					0	0	1	0	0
OBP2B	29989	broad.mit.edu	37	9	136083533	136083533	+	Nonsense_Mutation	SNP	G	G	A	rs138653366	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:136083533G>A	ENST00000372032.2	-	3	173	c.130C>T	c.(130-132)Caa>Taa	p.Q44*	OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372034.3_Silent_p.G88G			Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	0					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		CGCTGTATTTGCCAGGCTCCT	0.647000													11	30					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166894441	166894441	+	Missense_Mutation	SNP	G	G	A	rs121918788		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:166894441G>A	ENST00000423058.2	-	15	2808	c.2791C>T	c.(2791-2793)Cgc>Tgc	p.R931C	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R920C|SCN1A_ENST00000303395.4_Missense_Mutation_p.R931C|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.R903C	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	931			R -> C (in SMEI; dbSNP:rs121918788).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ATGTGCCAGCGTGGGAGTTGA	0.512000													61	152					0	0	1	0	0
PDDC1	347862	broad.mit.edu	37	11	771082	771082	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:771082G>A	ENST00000319863.8	-	7	588	c.567C>T	c.(565-567)caC>caT	p.H189H	PDDC1_ENST00000526325.1_Intron|PDDC1_ENST00000524550.1_Silent_p.H153H|PDDC1_ENST00000397472.2_Intron|PDDC1_ENST00000529966.1_5'UTR|PDDC1_ENST00000442059.2_Silent_p.H139H	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	189						extracellular region				kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAGCACGACGTGGACAGCGT	0.667000													8	18					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45802622	45802622	+	Missense_Mutation	SNP	C	C	T	rs146431153	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:45802622C>T	ENST00000397928.1	+	9	1682	c.1237C>T	c.(1237-1239)Cgg>Tgg	p.R413W	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.R413W|TRPM2_ENST00000300482.5_Missense_Mutation_p.R413W|TRPM2_ENST00000397932.2_Missense_Mutation_p.R413W	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	413						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CGTCCGGAGGCGGCAGCTGCT	0.552000													13	20					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154321480	154321480	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:154321480G>A	ENST00000368489.3	+	28	3558	c.3558G>A	c.(3556-3558)gcG>gcA	p.A1186A		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1172					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCTCTCTCGCGCTCTCCAGCT	0.642000													16	41					0	0	1	0	0
AMZ1	155185	broad.mit.edu	37	7	2751998	2751998	+	Missense_Mutation	SNP	C	C	T	rs149900602		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:2751998C>T	ENST00000312371.4	+	7	1351	c.983C>T	c.(982-984)aCg>aTg	p.T328M	AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_Silent_p.D271D	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	328							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		GTGGTGGGGACGTGGCCCAGC	0.662000													10	17					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3215169	3215169	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:3215169C>T	ENST00000356443.4	-	2	386	c.53G>A	c.(52-54)cGc>cAc	p.R18H	RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000261606.7_Missense_Mutation_p.R18H|MYOM1_ENST00000400569.3_Missense_Mutation_p.R18H	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	18						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTCCTTGTTGCGGTAGCTGAG	0.577000													3	27					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82580189	82580189	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:82580189G>A	ENST00000423517.2	-	6	10052	c.9715C>T	c.(9715-9717)Cgt>Tgt	p.R3239C	PCLO_ENST00000333891.8_Missense_Mutation_p.R3239C	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3170	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATTTCCTGACGTTCCCACTCC	0.448000													31	75					0	0	1	0	0
CLPB	81570	broad.mit.edu	37	11	72141383	72141383	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:72141383C>T	ENST00000294053.3	-	2	601	c.428G>A	c.(427-429)cGt>cAt	p.R143H	CLPB_ENST00000445069.2_Missense_Mutation_p.R39H|CLPB_ENST00000340729.5_Missense_Mutation_p.R143H|CLPB_ENST00000542555.1_5'UTR|CLPB_ENST00000538039.1_Missense_Mutation_p.R143H|CLPB_ENST00000437826.2_Silent_p.P62P|CLPB_ENST00000543042.1_Intron	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	143					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						ATTGTTGGCACGGGCAGCTTC	0.587000													5	19					0	0	1	0	0
COX15	1355	broad.mit.edu	37	10	101486760	101486760	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:101486760G>A	ENST00000370483.5	-	4	597	c.547C>T	c.(547-549)Cgt>Tgt	p.R183C	COX15_ENST00000016171.5_Missense_Mutation_p.R183C|CUTC_ENST00000493385.1_Intron	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	183					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		GCAAGAACACGTCCTTTCATG	0.517000													11	51					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139890023	139890023	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:139890023G>A	ENST00000303045.6	-	3	1074	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	COL22A1_ENST00000435777.1_Missense_Mutation_p.R210W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	210	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGCTTGCCCCGGATCTTGTCG	0.667000										HNSCC(7;0.00092)			18	51					0	0	1	0	0
SGSM2	9905	broad.mit.edu	37	17	2280072	2280072	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:2280072C>T	ENST00000268989.3	+	20	2832	c.2655C>T	c.(2653-2655)tgC>tgT	p.C885C	SGSM2_ENST00000574563.1_Silent_p.C840C|RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000426855.2_Silent_p.C840C	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	840	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AGGGCATGTGCGATCTGCTGG	0.632000													63	156					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119249669	119249669	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:119249669A>T	ENST00000313400.4	-	20	3566	c.3466T>A	c.(3466-3468)Ttc>Atc	p.F1156I	ASTN2_ENST00000361477.3_Missense_Mutation_p.F208I|ASTN2_ENST00000341734.4_Missense_Mutation_p.F208I|ASTN2_ENST00000288520.5_Missense_Mutation_p.F257I|ASTN2_ENST00000361209.2_Missense_Mutation_p.F1105I|ASTN2_ENST00000373996.3_Missense_Mutation_p.F1152I			O75129	ASTN2_HUMAN	astrotactin 2	1156	Fibronectin type-III.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGACACTTGAAGATGACTGAG	0.498000													33	83					0	0	1	0	0
LRRC8D	55144	broad.mit.edu	37	1	90400076	90400076	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:90400076C>T	ENST00000337338.5	+	3	1856	c.1449C>T	c.(1447-1449)ccC>ccT	p.P483P	LRRC8D_ENST00000394593.3_Silent_p.P483P	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	483						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CGGGGGTGCCCGATGCTGTCT	0.468000													20	55					0	0	1	0	0
LRRN4CL	221091	broad.mit.edu	37	11	62455621	62455621	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:62455621G>A	ENST00000317449.4	-	2	837	c.360C>T	c.(358-360)gaC>gaT	p.D120D		NM_203422.2	NP_981967.1	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like	120	Fibronectin type-III.					integral to membrane		p.D120D(1)		cervix(1)|kidney(1)	2						CCTCGCTGCCGTCCCAAAGCA	0.657000													13	34					0	0	1	0	0
ZNF276	92822	broad.mit.edu	37	16	89799939	89799939	+	Missense_Mutation	SNP	G	G	A	rs141797932		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:89799939G>A	ENST00000289816.5	+	8	1417	c.1105G>A	c.(1105-1107)Gtg>Atg	p.V369M	ZNF276_ENST00000568064.1_Missense_Mutation_p.V352M|ZNF276_ENST00000446326.2_Missense_Mutation_p.V230M|ZNF276_ENST00000443381.2_Missense_Mutation_p.V444M	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTGCACGGCCGTGTACCGAGG	0.642000													44	78					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134118636	134118636	+	Splice_Site	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:134118636G>T	ENST00000452510.2	+	9	1205	c.1045_splice	c.e9-1	p.E349_splice	DDX46_ENST00000509178.1_3'UTR|DDX46_ENST00000354283.4_Splice_Site_p.E349_splice	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	349					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTTTGTAGAGGTAAATGTGT	0.343000													8	64					0.00621372	0.0062834	1	1	0
CASR	846	broad.mit.edu	37	3	122002728	122002728	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:122002728G>A	ENST00000498619.1	+	7	2395	c.1957G>A	c.(1957-1959)Gtc>Atc	p.V653I	CASR_ENST00000296154.5_Missense_Mutation_p.V643I|CASR_ENST00000490131.1_Missense_Mutation_p.V643I	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	643					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CACACCCATTGTCAAGGCCAC	0.577000													21	69					0	0	1	0	0
PHYKPL	85007	broad.mit.edu	37	5	177651532	177651532	+	Missense_Mutation	SNP	G	G	A	rs141643431		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:177651532G>A	ENST00000308158.5	-	6	769	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	PHYKPL_ENST00000481811.1_Intron	NM_153373.2	NP_699204.1			5-phosphohydroxy-L-lysine phospho-lyase																		TGGTCCTCCCGGTAGGGGCCC	0.632000													19	48					0	0	1	0	0
BCL2A1	597	broad.mit.edu	37	15	80263148	80263148	+	Missense_Mutation	SNP	C	C	T	rs138123718		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:80263148C>T	ENST00000267953.3	-	1	640	c.314G>A	c.(313-315)cGa>cAa	p.R105Q	BCL2A1_ENST00000335661.6_Missense_Mutation_p.R105Q	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	105					anti-apoptosis|apoptosis	cytoplasm	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						AATTTGCTGTCGTAGAAGTTT	0.388000													68	122					0	0	1	0	0
NDC80	10403	broad.mit.edu	37	18	2573008	2573008	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:2573008C>T	ENST00000261597.4	+	2	206	c.24C>T	c.(22-24)agC>agT	p.S8S		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	8	Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						CAGTTTCCAGCGGTGGTGCTG	0.428000													4	48					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25472047	25472047	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:25472047G>A	ENST00000278886.6	-	11	1498	c.1425C>T	c.(1423-1425)gaC>gaT	p.D475D	NINL_ENST00000422516.1_Silent_p.D475D	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	475					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GGCGCCCCACGTCCCACTCCA	0.701000													35	67					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44858060	44858060	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:44858060A>G	ENST00000261866.7	-	38	7007	c.6991T>C	c.(6991-6993)Ttc>Ctc	p.F2331L	SPG11_ENST00000427534.2_Intron|SPG11_ENST00000535302.2_Missense_Mutation_p.F2218L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2331					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ACCTGGTAGAACCGAGGTAGG	0.517000													6	27					0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207425854	207425854	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:207425854G>A	ENST00000264377.3	+	12	1500	c.1172G>A	c.(1171-1173)cGg>cAg	p.R391Q	ADAM23_ENST00000374416.1_Missense_Mutation_p.R391Q|ADAM23_ENST00000374415.3_Missense_Mutation_p.R391Q	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	391	Peptidase M12B.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TTCTTAAGGCGGGTGACATTT	0.428000													3	54					0	0	1	0	0
LIG4	3981	broad.mit.edu	37	13	108863523	108863523	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:108863523G>A	ENST00000356922.4	-	2	366	c.94C>T	c.(94-96)Cgt>Tgt	p.R32C	LIG4_ENST00000405925.1_Missense_Mutation_p.R32C|LIG4_ENST00000442234.1_Missense_Mutation_p.R32C	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	32					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TTTTCTGCACGTCCTTTACTT	0.373000								Non-homologous end-joining					14	41					0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141321377	141321377	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:141321377G>A	ENST00000389328.4	-	10	1900	c.1886C>T	c.(1885-1887)cCg>cTg	p.P629L	TRAPPC9_ENST00000438773.2_Missense_Mutation_p.P531L|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.P522L	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	531					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GAAGGGCACCGGTGGCAGGGT	0.587000													23	53					0	0	1	0	0
CDKN1A	1026	broad.mit.edu	37	6	36651973	36651973	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:36651973G>A	ENST00000405375.1	+	2	330	c.95G>A	c.(94-96)cGc>cAc	p.R32H	CDKN1A_ENST00000244741.5_Missense_Mutation_p.R32H|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000373711.2_Missense_Mutation_p.R32H|CDKN1A_ENST00000448526.2_Missense_Mutation_p.R66H	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	32					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CAGCTGAGCCGCGACTGTGAT	0.652000													17	41					0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104117870	104117870	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:104117870A>G	ENST00000361355.4	+	8	1520	c.904A>G	c.(904-906)Atg>Gtg	p.M302V	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	302					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TTGGGGTTTCATGCCTTCTGA	0.418000													8	407					0	0	1	0	0
DCP2	167227	broad.mit.edu	37	5	112327915	112327915	+	Silent	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:112327915T>C	ENST00000389063.2	+	3	501	c.303T>C	c.(301-303)ggT>ggC	p.G101G	DCP2_ENST00000543319.1_Intron|DCP2_ENST00000515408.1_Silent_p.G101G	NM_152624.5	NP_689837.2	Q8IU60	DCP2_HUMAN	decapping mRNA 2	101	Nudix hydrolase.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		CAACATATGGTGCAATTATTC	0.328000													23	76					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58208512	58208512	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:58208512G>T	ENST00000377918.3	+	1	1858	c.1832G>T	c.(1831-1833)cGc>cTc	p.R611L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	611	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			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)		AGCACTGTGCGCGCCCTAGAC	0.662000													4	86					0.150653	0.151212	1	1	0
CYP4V2	285440	broad.mit.edu	37	4	187130278	187130278	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:187130278C>T	ENST00000378802.4	+	10	1561	c.1257C>T	c.(1255-1257)gcC>gcT	p.A419A	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	419					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		GCACTGAAGCCGTCATCATTC	0.502000													6	133					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23234628	23234628	+	Silent	SNP	C	C	T	rs141632768		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:23234628C>T	ENST00000400191.3	+	12	2337	c.2319C>T	c.(2317-2319)gaC>gaT	p.D773D	EPHB2_ENST00000374627.1_Silent_p.D768D|EPHB2_ENST00000374630.3_Silent_p.D773D|EPHB2_ENST00000374632.3_Silent_p.D774D	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	773	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TTCTAGAGGACGATACCTCAG	0.567000													23	62					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17766855	17766855	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:17766855G>A	ENST00000428389.2	-	11	1383	c.1384C>T	c.(1384-1386)Cgc>Tgc	p.R462C	UNC13A_ENST00000519716.2_Missense_Mutation_p.R374C|UNC13A_ENST00000552293.1_Missense_Mutation_p.R374C|UNC13A_ENST00000551649.1_Missense_Mutation_p.R374C|UNC13A_ENST00000550896.1_Missense_Mutation_p.R374C|UNC13A_ENST00000252773.7_Missense_Mutation_p.R374C			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	374					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGGCTGATGCGTTTGAAGTCT	0.652000													3	7					0	0	1	0	0
C1orf123	54987	broad.mit.edu	37	1	53681698	53681698	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:53681698C>T	ENST00000294360.4	-	7	411	c.370G>A	c.(370-372)Ggg>Agg	p.G124R	C1orf123_ENST00000470385.1_5'UTR	NM_017887.1	NP_060357.1	Q9NWV4	CA123_HUMAN	chromosome 1 open reading frame 123	124										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|pancreas(2)|skin(1)	6						AAGGCTGTCCCTGACTCCACA	0.517000													39	107					0	0	1	0	0
FGD3	89846	broad.mit.edu	37	9	95766401	95766401	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:95766401C>T	ENST00000375482.3	+	5	1158	c.662C>T	c.(661-663)aCg>aTg	p.T221M	FGD3_ENST00000416701.2_Missense_Mutation_p.T221M|FGD3_ENST00000337352.6_Missense_Mutation_p.T221M	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	221	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GAGCTGAAGACGCGGATCACG	0.587000											OREG0019318	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	83					0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43693446	43693446	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:43693446C>T	ENST00000398437.1	+	5	1024	c.876C>T	c.(874-876)aaC>aaT	p.N292N	ABCG1_ENST00000347800.2_Silent_p.N143N|ABCG1_ENST00000343687.3_Silent_p.N157N|ABCG1_ENST00000398449.3_Silent_p.N146N|ABCG1_ENST00000340588.4_Silent_p.N254N|ABCG1_ENST00000361802.2_Silent_p.N146N|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Silent_p.N148N			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	146	ABC transporter.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TCCTCATCAACGGCCTGCCCC	0.652000													6	129					0	0	1	0	0
CAPZB	832	broad.mit.edu	37	1	19666098	19666098	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:19666098A>G	ENST00000264203.3	-	9	1239	c.746T>C	c.(745-747)tTt>tCt	p.F249S	CAPZB_ENST00000433834.1_Missense_Mutation_p.F278L|CAPZB_ENST00000401084.2_Missense_Mutation_p.F249L|CAPZB_ENST00000375144.1_Missense_Mutation_p.F237L|CAPZB_ENST00000375142.1_3'UTR			P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	0					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		TTGTCTGCAAAAGTCTGCACA	0.522000													7	203					0	0	1	0	0
MARK2	2011	broad.mit.edu	37	11	63676558	63676558	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:63676558C>T	ENST00000402010.2	+	19	2795	c.2216C>T	c.(2215-2217)aCg>aTg	p.T739M	MARK2_ENST00000509502.2_Missense_Mutation_p.T696M|MARK2_ENST00000361128.5_Missense_Mutation_p.T670M|MARK2_ENST00000315032.8_Missense_Mutation_p.T730M|MARK2_ENST00000350490.7_Missense_Mutation_p.T660M|MARK2_ENST00000502399.3_Missense_Mutation_p.T729M|MARK2_ENST00000508192.1_Missense_Mutation_p.T675M|MARK2_ENST00000408948.3_Missense_Mutation_p.T642M|MARK2_ENST00000377809.4_Missense_Mutation_p.T724M|MARK2_ENST00000377810.3_Missense_Mutation_p.T642M|MARK2_ENST00000413835.2_Missense_Mutation_p.T685M|MARK2_ENST00000425897.2_Missense_Mutation_p.T650M|MARK2_ENST00000513765.2_Missense_Mutation_p.T706M	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	739	KA1.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						ATGCACGGCACGCCGGGCCAC	0.612000													4	100					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70613207	70613207	+	Silent	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:70613207A>G	ENST00000449580.1	+	21	3156	c.3105A>G	c.(3103-3105)gaA>gaG	p.E1035E	TAF1_ENST00000276072.3_Silent_p.E1056E|TAF1_ENST00000373790.4_Silent_p.E1035E|TAF1_ENST00000423759.1_Silent_p.E1056E			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1035					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TGTCAACAGAACAGGCTCGTT	0.458000													6	72					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5245857	5245857	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:5245857C>T	ENST00000372412.4	-	10	1154	c.921G>A	c.(919-921)tcG>tcA	p.S307S	PTPRS_ENST00000592099.1_Silent_p.S293S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000587303.1_Silent_p.S306S|PTPRS_ENST00000357368.4_Silent_p.S306S|PTPRS_ENST00000353284.2_Silent_p.S293S|PTPRS_ENST00000348075.2_Silent_p.S293S|PTPRS_ENST00000262963.6_Silent_p.S302S|PTPRS_ENST00000588012.1_Silent_p.S293S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	306	Ig-like C2-type 3.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TGTAGTTGGCCGAGTCCTTGA	0.617000													7	27					0	0	1	0	0
GNB1	2782	broad.mit.edu	37	1	1720558	1720558	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:1720558G>T	ENST00000378609.4	-	10	1181	c.850C>A	c.(850-852)Ctc>Atc	p.L284I		NM_002074.3	NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	284					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GCAAGGAGGAGGCGCCCGCTC	0.577000											OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	47					1.49906e-05	1.53742e-05	1	1	0
TPCN2	219931	broad.mit.edu	37	11	68822732	68822732	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:68822732G>A	ENST00000294309.3	+	4	442	c.341G>A	c.(340-342)cGc>cAc	p.R114H	TPCN2_ENST00000542467.1_Missense_Mutation_p.R114H|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	114					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GTGCGCTACCGCGCTGCTCCC	0.622000													39	93					0	0	1	0	0
GPR153	387509	broad.mit.edu	37	1	6314755	6314755	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:6314755G>A	ENST00000377893.2	-	2	470	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	71						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GGGCGCTGCCGCCGCAGCTGC	0.612000													46	106					0	0	1	0	0
GLCCI1	113263	broad.mit.edu	37	7	8126004	8126004	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:8126004G>A	ENST00000223145.5	+	8	2037	c.1480G>A	c.(1480-1482)Gtt>Att	p.V494I		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	494										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		AACTCTGACCGTTGAGCAGCT	0.552000													38	408					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766738	77766738	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:77766738G>A	ENST00000521891.2	+	10	8029	c.7581G>A	c.(7579-7581)ccG>ccA	p.P2527P	ZFHX4_ENST00000455469.2_Silent_p.P2482P|ZFHX4_ENST00000518282.1_Silent_p.P2501P|ZFHX4_ENST00000050961.6_Silent_p.P2482P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2482						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTCACTCTCCGTTCTTGGAAA	0.507000										HNSCC(33;0.089)			8	214					0	0	1	0	0
ACBD3	64746	broad.mit.edu	37	1	226334447	226334447	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:226334447C>T	ENST00000366812.5	-	8	1505	c.1451G>A	c.(1450-1452)cGa>cAa	p.R484Q		NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	484	GOLD.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		ACAGTCCCGTCGGTACACAGG	0.473000													5	138					0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150839616	150839616	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:150839616C>T	ENST00000397238.2	+	16	2168	c.2168C>T	c.(2167-2169)cCg>cTg	p.P723L	AGAP3_ENST00000463381.1_Missense_Mutation_p.P392L	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	687	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GATGACTGGCCGCCTGAGCTG	0.652000													22	67					0	0	1	0	0
EVI5L	115704	broad.mit.edu	37	19	7928473	7928473	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:7928473C>T	ENST00000270530.4	+	19	2466	c.2270C>T	c.(2269-2271)cCg>cTg	p.P757L	EVI5L_ENST00000538904.2_Missense_Mutation_p.P768L	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	757						intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						CCTCTGTCCCCGCGCGATGCG	0.697000													6	2					0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74605228	74605228	+	Missense_Mutation	SNP	C	C	T	rs74768853		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:74605228C>T	ENST00000361874.3	-	2	495	c.178G>A	c.(178-180)Gtg>Atg	p.V60M	DCTN1_ENST00000409567.3_Missense_Mutation_p.V60M|DCTN1_ENST00000409868.1_Missense_Mutation_p.V43M|DCTN1_ENST00000394003.3_Missense_Mutation_p.V60M|DCTN1_ENST00000409240.1_Missense_Mutation_p.V43M	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	60	CAP-Gly.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TCCAGAATCACGCCTACCCAT	0.532000													18	59					0	0	1	0	0
YTHDF2	51441	broad.mit.edu	37	1	29069851	29069851	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:29069851C>T	ENST00000373812.3	+	4	1431	c.1069C>T	c.(1069-1071)Cgt>Tgt	p.R357C	YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000542507.1_Missense_Mutation_p.R357C|YTHDF2_ENST00000541996.1_Missense_Mutation_p.R307C	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	357					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTCGGAACCGTGGCAGTGG	0.582000													7	178					0	0	1	0	0
MCMBP	79892	broad.mit.edu	37	10	121596512	121596512	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:121596512G>A	ENST00000360003.3	-	13	1613	c.1444C>T	c.(1444-1446)Ctc>Ttc	p.L482F	MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Missense_Mutation_p.L480F	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	482					cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	p.L482F(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						CACGTTATGAGGTTGCTCAGG	0.433000													22	69					0	0	1	0	0
SLC25A22	79751	broad.mit.edu	37	11	792012	792012	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:792012G>A	ENST00000320230.5	-	10	1356	c.875C>T	c.(874-876)gCg>gTg	p.A292V	SLC25A22_ENST00000531214.1_Missense_Mutation_p.A292V	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	292						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	GATGACCAGCGCGCGGCAGTA	0.692000													4	18					0	0	1	0	0
GLO1	2739	broad.mit.edu	37	6	38652182	38652182	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:38652182C>T	ENST00000373365.4	-	3	362	c.276G>A	c.(274-276)gcG>gcA	p.A92A		NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	92					anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)	TTCTGGAGAGCGCCCAGGCTA	0.303000													7	18					0	0	1	0	0
NDUFB7	4713	broad.mit.edu	37	19	14677003	14677003	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:14677003G>A	ENST00000215565.2	-	3	417	c.356C>T	c.(355-357)gCg>gTg	p.A119V		NM_004146.5	NP_004137.2	P17568	NDUB7_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa	119					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8					NADH(DB00157)	CAACTCTGCCGCCTTCTTCTC	0.627000													12	31					0	0	1	0	0
KCNE2	0	broad.mit.edu	37	21	35743007	35743007	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:35743007G>A	ENST00000290310.2	+	2	370	c.230G>A	c.(229-231)cGg>cAg	p.R77Q		NM_172201.1	NP_751951.1	Q9Y6J6	KCNE2_HUMAN	potassium voltage-gated channel, Isk-related family, member 2	77			R -> W (in LQT6).		blood circulation|muscle contraction|regulation of heart contraction	lysosome|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(1)	2						TCCAAGAGACGGGAACACTCC	0.463000													17	43					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153132319	153132319	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:153132319C>T	ENST00000370060.1	-	19	2405	c.2216G>A	c.(2215-2217)cGg>cAg	p.R739Q	L1CAM_ENST00000361699.4_Missense_Mutation_p.R739Q|L1CAM_ENST00000543994.1_Missense_Mutation_p.R741Q|L1CAM_ENST00000538883.1_Missense_Mutation_p.R741Q|L1CAM_ENST00000361981.3_Missense_Mutation_p.R734Q|L1CAM_ENST00000370055.1_Missense_Mutation_p.R734Q|L1CAM_ENST00000370057.3_Missense_Mutation_p.R739Q	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	739	Fibronectin type-III 2.		R -> W.		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCCATCCACCGGAGCGGCTG	0.642000													24	10					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48947629	48947629	+	Splice_Site	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:48947629G>A	ENST00000267163.4	+	12	1353		c.e12+1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(23)|p.0?(15)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTATTTTAACGTAAGCCATAT	0.279000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			4	66					0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087429	39087429	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:39087429C>T	ENST00000400482.3	-	3	620	c.31G>A	c.(31-33)Gtc>Atc	p.V11I	KCNJ6_ENST00000288309.6_Missense_Mutation_p.V11I	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	11					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CCCTCCAGGACGTTAGCTGGT	0.517000													8	29					0	0	1	0	0
PCDHB1	0	broad.mit.edu	37	5	140431763	140431763	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140431763C>T	ENST00000306549.3	+	1	785	c.708C>T	c.(706-708)aaC>aaT	p.N236N		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		236	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N236N(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGATGTCAACGACCACGTGC	0.597000													7	19					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133254166	133254166	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:133254166C>T	ENST00000320574.5	-	7	761	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	POLE_ENST00000535270.1_Missense_Mutation_p.V213M	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	240					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CCACTCACCACGTGGATCTTC	0.498000								DNA polymerases (catalytic subunits)					14	33					0	0	1	0	0
F7	2155	broad.mit.edu	37	13	113772753	113772753	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:113772753G>A	ENST00000375581.3	+	9	867	c.832G>A	c.(832-834)Ggg>Agg	p.G278R	F7_ENST00000346342.3_Missense_Mutation_p.G256R|F7_ENST00000541084.1_Missense_Mutation_p.G209R	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	278	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CGAGCACGACGGGGATGAGCA	0.687000													37	98					0	0	1	0	0
TNFRSF18	8784	broad.mit.edu	37	1	1140762	1140762	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:1140762delC	ENST00000379268.2	-	2	417	c.298delG	c.(298-300)tafs	p.V100fs	TNFRSF18_ENST00000486728.1_Frame_Shift_Del_p.V28fs|TNFRSF18_ENST00000379265.5_Frame_Shift_Del_p.V100fs|TNFRSF18_ENST00000328596.6_Frame_Shift_Del_p.V100fs	NM_004195.2|NM_148902.1	NP_004186.1|NP_683700.1	Q9Y5U5	TNR18_HUMAN	tumor necrosis factor receptor superfamily, member 18	100					anti-apoptosis|apoptosis	extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGGGACTGTACCCCCTGGCCT	0.657													9	26	---	---	---	---					
TNFRSF4	7293	broad.mit.edu	37	1	1147441	1147441	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:1147441delG	ENST00000379236.3	-	5	519	c.515delC	c.(514-516)cafs	p.P172fs	TNFRSF4_ENST00000453580.1_5'UTR	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	172					immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGCGTGGCTGGGGGGTCCCT	0.677													12	34	---	---	---	---					
SPEN	23013	broad.mit.edu	37	1	16259480	16259480	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:16259480delC	ENST00000375759.3	+	11	6949	c.6745delC	c.(6745-6747)ccfs	p.P2250fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2250	Interaction with MSX2 (By similarity).|RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.A2251fs*102(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGATCTGCAACCCCCCGCAGG	0.557													47	159	---	---	---	---					
TMCO4	255104	broad.mit.edu	37	1	20009647	20009650	+	Frame_Shift_Del	DEL	AGGA	AGGA	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:20009647_20009650delAGGA	ENST00000294543.6	-	16	2029_2032	c.1788_1791delTCCT	c.(1786-1791)ctfs	p.LP596fs	TMCO4_ENST00000375122.2_Frame_Shift_Del_p.LP556fs|TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Intron	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	596						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		TGGCAGCAGCAGGAAGGGAGGCCC	0.647													23	99	---	---	---	---					
KIF17	57576	broad.mit.edu	37	1	21014273	21014273	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:21014273delG	ENST00000247986.2	-	8	1856	c.1546delC	c.(1546-1548)agfs	p.Q516fs	KIF17_ENST00000400463.3_Frame_Shift_Del_p.Q516fs|KIF17_ENST00000490034.1_Intron|KIF17_ENST00000375044.1_Frame_Shift_Del_p.Q416fs			Q9P2E2	KIF17_HUMAN	kinesin family member 17	516					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GAGGAAACCTGAGTCTTGGAG	0.542													14	137	---	---	---	---					
HSPG2	3339	broad.mit.edu	37	1	22169275	22169275	+	Frame_Shift_Del	DEL	G	G	-	rs149203308		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:22169275delG	ENST00000374695.3	-	67	8977	c.8898delC	c.(8896-8898)ccfs	p.P2966fs		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2966	Ig-like C2-type 15.				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)	GGTGCCGGGCGGGGAGGCTGC	0.617													8	101	---	---	---	---					
KIAA1522	57648	broad.mit.edu	37	1	33233495	33233495	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:33233495delC	ENST00000401073.2	+	2	413	c.343delC	c.(343-345)ccfs	p.P116fs	KIAA1522_ENST00000294521.3_Frame_Shift_Del_p.P57fs|KIAA1522_ENST00000373481.3_Frame_Shift_Del_p.P68fs|KIAA1522_ENST00000373480.1_Frame_Shift_Del_p.P57fs	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	57										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CAGTGGGCGACCCCCCCACCT	0.612													28	90	---	---	---	---					
MACF1	23499	broad.mit.edu	37	1	39906934	39906935	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:39906934_39906935delAG	ENST00000564288.1	+	74	19386_19387	c.18609_18610delAG	c.(18607-18612)aaagfs	p.KE6203fs	MACF1_ENST00000545844.1_Frame_Shift_Del_p.KE4144fs|MACF1_ENST00000317713.7_Frame_Shift_Del_p.KE4144fs|MACF1_ENST00000539005.1_Frame_Shift_Del_p.KE4014fs|MACF1_ENST00000372915.3_Frame_Shift_Del_p.KE6102fs|MACF1_ENST00000567887.1_Frame_Shift_Del_p.KE6240fs|MACF1_ENST00000289893.4_Frame_Shift_Del_p.KE4646fs|MACF1_ENST00000361689.2_Frame_Shift_Del_p.KE4144fs			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6212					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAACATGGAAAGAGAGGCTAGA	0.441													30	107	---	---	---	---					
TIE1	7075	broad.mit.edu	37	1	43772910	43772910	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:43772910delC	ENST00000372476.3	+	5	817	c.738delC	c.(736-738)tgfs	p.C246fs	TIE1_ENST00000538015.1_Frame_Shift_Del_p.C246fs|TIE1_ENST00000433781.2_5'UTR|TIE1_ENST00000441333.2_Frame_Shift_Del_p.C246fs	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	246	EGF-like 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.P248fs*117(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AATGTGTATGCCCCCCTGGCT	0.632													28	86	---	---	---	---					
PIK3R3	8503	broad.mit.edu	37	1	46543215	46543215	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:46543215delT	ENST00000262741.5	-	3	975	c.286delA	c.(286-288)tgfs	p.M96fs	PIK3R3_ENST00000354242.4_Frame_Shift_Del_p.M96fs|PIK3R3_ENST00000340332.6_Frame_Shift_Del_p.M60fs|PIK3R3_ENST00000540385.1_Frame_Shift_Del_p.M142fs|PIK3R3_ENST00000423209.1_Frame_Shift_Del_p.M96fs|PIK3R3_ENST00000420542.1_Frame_Shift_Del_p.M96fs|PIK3R3_ENST00000372006.1_Frame_Shift_Del_p.M96fs	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	96	SH2 1.				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					TCTCCCTGCATTTTTGTTGAG	0.383													9	119	---	---	---	---					
C1orf173	127254	broad.mit.edu	37	1	75038828	75038829	+	Frame_Shift_Ins	INS	-	-	C	rs145046312		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:75038828_75038829insC	ENST00000326665.5	-	14	2783_2784	c.2565_2566insG	c.(2563-2568)ggcagafs	p.R856fs	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	856	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATGGGGTCTGACCCCCCTTCAC	0.530													16	176	---	---	---	---					
LPHN2	23266	broad.mit.edu	37	1	82408815	82408817	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:82408815_82408817delCTT	ENST00000370728.1	+	8	1205_1207	c.560_562delCTT	c.(559-564)gct>g	p.AS187del	LPHN2_ENST00000370725.1_In_Frame_Del_p.AS187del|LPHN2_ENST00000370727.1_In_Frame_Del_p.AS187del|LPHN2_ENST00000359929.3_In_Frame_Del_p.AS187del|LPHN2_ENST00000370730.1_In_Frame_Del_p.AS187del|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_In_Frame_Del_p.AS187del|LPHN2_ENST00000319517.6_In_Frame_Del_p.AS187del|LPHN2_ENST00000394879.1_In_Frame_Del_p.AS187del|LPHN2_ENST00000370715.1_In_Frame_Del_p.AS187del|LPHN2_ENST00000370721.1_In_Frame_Del_p.AS191del|LPHN2_ENST00000271029.4_In_Frame_Del_p.AS187del|LPHN2_ENST00000370723.1_In_Frame_Del_p.AS187del|LPHN2_ENST00000370717.2_In_Frame_Del_p.AS187del|LPHN2_ENST00000335786.5_In_Frame_Del_p.AS187del			O95490	LPHN2_HUMAN	latrophilin 2	187	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATAGAATATGCTTCTTTAGAAGA	0.409													31	66	---	---	---	---					
EPHX4	253152	broad.mit.edu	37	1	92511122	92511122	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:92511122delG	ENST00000370383.4	+	4	607	c.509delG	c.(508-510)tgfs	p.W170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						GGCCATGACTGGGGGGGCATG	0.388													8	105	---	---	---	---					
FAM102B	284611	broad.mit.edu	37	1	109103056	109103058	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:109103056_109103058delGAA	ENST00000370035.3	+	1	346_348	c.6_8delGAA	c.(4-9)atg>at	p.MK2del	FAM102B_ENST00000405454.1_In_Frame_Del_p.MK2del	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	2										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		TCACGATGATGAAGAAGAAGAAG	0.640													9	27	---	---	---	---					
RP11-782C8.2	0	broad.mit.edu	37	1	143209443	143209444	+	RNA	INS	-	-	TC			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:143209443_143209444insTC	ENST00000412204.2	-	0	1626_1627				RP11-782C8.1_ENST00000438000.1_lincRNA																							TCTTTCTGCTTTCTCTCTCTCA	0.302													12	11	---	---	---	---					
ARHGEF11	9826	broad.mit.edu	37	1	156917732	156917733	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:156917732_156917733insG	ENST00000368194.3	-	25	3208_3209	c.2169_2170insC	c.(2167-2172)ccgtttfs	p.F724fs	ARHGEF11_ENST00000315174.8_Frame_Shift_Ins_p.F100fs|ARHGEF11_ENST00000361409.2_Frame_Shift_Ins_p.F684fs	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	684					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AACCCCAAACTGGGGGACTCAA	0.574													14	30	---	---	---	---					
TBX19	9095	broad.mit.edu	37	1	168282117	168282117	+	Frame_Shift_Del	DEL	G	G	-	rs149058755		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:168282117delG	ENST00000367821.3	+	8	1275	c.1224delG	c.(1222-1224)ctfs	p.L408fs	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	408					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TGGAGGTTCTGGGGGAGCCCT	0.642													20	52	---	---	---	---					
ARPC5	10092	broad.mit.edu	37	1	183602245	183602245	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:183602245delG	ENST00000359856.6	-	2	254	c.188delC	c.(187-189)ctfs	p.P63fs	ARPC5_ENST00000462965.1_5'UTR|ARPC5_ENST00000294742.6_Frame_Shift_Del_p.P66fs|ARPC5_ENST00000367534.1_Frame_Shift_Del_p.P63fs	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN	actin related protein 2/3 complex, subunit 5, 16kDa	63					actin cytoskeleton organization|cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|structural constituent of cytoskeleton			cervix(1)|large_intestine(1)|lung(2)	4						GGTGTTGATAGGGGGGTTCTT	0.468													51	187	---	---	---	---					
KCTD3	51133	broad.mit.edu	37	1	215793922	215793922	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:215793922delA	ENST00000259154.4	+	18	2704	c.2410delA	c.(2410-2412)aafs	p.K805fs	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	805						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TCCTCGGCATAAAAAAAGTGA	0.418													21	74	---	---	---	---					
ZNF670	93474	broad.mit.edu	37	1	247201212	247201212	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:247201212delA	ENST00000366503.2	-	4	867	c.709delT	c.(709-711)ccfs	p.S239fs		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			AGAGAACTGGAAAAAGTGAAT	0.383													22	54	---	---	---	---					
NLRP3	114548	broad.mit.edu	37	1	247587978	247587978	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:247587978delC	ENST00000366497.2	+	4	2013	c.1233delC	c.(1231-1233)atfs	p.I411fs	NLRP3_ENST00000391828.3_Frame_Shift_Del_p.I411fs|NLRP3_ENST00000336119.3_Frame_Shift_Del_p.I411fs|NLRP3_ENST00000348069.2_Frame_Shift_Del_p.I411fs|NLRP3_ENST00000366496.2_Frame_Shift_Del_p.I411fs|NLRP3_ENST00000391827.2_Frame_Shift_Del_p.I411fs|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	411	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGTGCTTCATCCCCCTGGTCT	0.547													7	83	---	---	---	---					
SH3BP5L	80851	broad.mit.edu	37	1	249106151	249106151	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:249106151delC	ENST00000366472.5	-	7	2359	c.1130delG	c.(1129-1131)gcfs	p.G377fs	SH3BP5L_ENST00000411742.2_Frame_Shift_Del_p.G345fs|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	377										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GCCGTCGCTGCCCCGGCGCCC	0.701													4	5	---	---	---	---					
PGBD2	0	broad.mit.edu	37	1	249211881	249211881	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:249211881delG	ENST00000355360.4	+	3	615	c.345delG	c.(343-345)aafs	p.K115fs	PGBD2_ENST00000329291.5_Frame_Shift_Del_p.K366fs|PGBD2_ENST00000539153.1_Frame_Shift_Del_p.K363fs	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	366										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGAGGAAAAAGGGGGTGAAAG	0.418													34	92	---	---	---	---					
MYT1L	23040	broad.mit.edu	37	2	1926367	1926367	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:1926367delG	ENST00000399161.2	-	10	1921	c.1174delC	c.(1174-1176)ggfs	p.R392fs	MYT1L_ENST00000428368.2_Frame_Shift_Del_p.R392fs	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	392					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACTCTCGACCGGGGGCTCAAC	0.592													14	46	---	---	---	---					
ROCK2	9475	broad.mit.edu	37	2	11389836	11389837	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:11389836_11389837insA	ENST00000315872.6	-	4	860_861	c.412_413insT	c.(412-414)ggafs	p.G138fs	ROCK2_ENST00000462366.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	138	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TCTTTCTTCCCAAAAAAAGGCA	0.356													8	153	---	---	---	---					
PUM2	23369	broad.mit.edu	37	2	20511377	20511377	+	Frame_Shift_Del	DEL	T	T	-	rs34931937		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:20511377delT	ENST00000361078.2	-	4	418	c.396delA	c.(394-396)aafs	p.K132fs	PUM2_ENST00000403432.1_Frame_Shift_Del_p.K132fs|PUM2_ENST00000536417.1_Frame_Shift_Del_p.K76fs|PUM2_ENST00000420234.1_Intron|PUM2_ENST00000338086.5_Frame_Shift_Del_p.K132fs|PUM2_ENST00000319801.5_Frame_Shift_Del_p.K132fs			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	132	Interaction with SNAPIN.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGCCTTGCCTTTTTGATCTC	0.373													17	31	---	---	---	---					
RPS27A	6233	broad.mit.edu	37	2	55462017	55462019	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:55462017_55462019delGAA	ENST00000272317.6	+	5	564_566	c.240_242delGAA	c.(238-243)agg>ag	p.RK80del	RPS27A_ENST00000404735.1_In_Frame_Del_p.RK80del|RPS27A_ENST00000402285.3_In_Frame_Del_p.RK80del	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN	ribosomal protein S27a	80	Lys-rich (highly basic).				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome			cervix(1)|ovary(1)|urinary_tract(1)	3						CTAAGAAAAGGAAGAAGAAGTCT	0.419													10	17	---	---	---	---					
ATP6V1B1	525	broad.mit.edu	37	2	71187196	71187196	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:71187196delC	ENST00000234396.4	+	6	646	c.573delC	c.(571-573)ctfs	p.L191fs	ATP6V1B1_ENST00000412314.1_Frame_Shift_Del_p.L191fs|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	191					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CAGCCGGGCTCCCCCACAATG	0.622													25	58	---	---	---	---					
KIAA1211L	343990	broad.mit.edu	37	2	99439044	99439045	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:99439044_99439045insC	ENST00000397899.2	-	7	2022_2023	c.1691_1692insG	c.(1690-1692)gggfs	p.G564fs		NM_207362.2	NP_997245.2			KIAA1211-like																		GCTCGGCACCGCCCCTCTCCGC	0.792													6	1	---	---	---	---					
RANBP2	5903	broad.mit.edu	37	2	109388168	109388168	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:109388168delA	ENST00000283195.6	+	21	7987	c.7861delA	c.(7861-7863)aafs	p.K2622fs		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2622					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAAAGAGAAGAAAAAACCTGA	0.353													55	143	---	---	---	---					
PAX8	7849	broad.mit.edu	37	2	114002135	114002135	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:114002135delG	ENST00000429538.3	-	4	452	c.258delC	c.(256-258)ccfs	p.P86fs	PAX8_ENST00000263334.5_Frame_Shift_Del_p.P86fs|AC016683.6_ENST00000556070.1_RNA|PAX8_ENST00000397647.3_Frame_Shift_Del_p.P86fs|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000445745.1_RNA|PAX8_ENST00000263335.7_Frame_Shift_Del_p.P86fs|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000451179.1_RNA|PAX8_ENST00000348715.5_Frame_Shift_Del_p.P86fs	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	86	Paired.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						CCACCACCTTGGGGGTGGCCA	0.567			T	PPARG	follicular thyroid		Thyroid dysgenesis						10	421	---	---	---	---					
TUBA3E	112714	broad.mit.edu	37	2	130951457	130951457	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:130951457delT	ENST00000312988.7	-	4	1058	c.958delA	c.(958-960)ggfs	p.R320fs		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	320					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					ACGTCCCCCCTGTACAACATG	0.562													59	141	---	---	---	---					
LRP1B	53353	broad.mit.edu	37	2	141115624	141115624	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:141115624delT	ENST00000389484.3	-	74	12290	c.11319delA	c.(11317-11319)aafs	p.K3773fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3773	LDL-receptor class A 32.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAGGGATGCATTTTTTATTAC	0.388										TSP Lung(27;0.18)			7	107	---	---	---	---					
GRB14	2888	broad.mit.edu	37	2	165476321	165476321	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:165476321delT	ENST00000263915.3	-	2	738	c.200delA	c.(199-201)agfs	p.K68fs		NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	68					blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	p.K67M(1)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						AAGATCTTTCTTTTTTCTCCT	0.368													15	51	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179399405	179399406	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179399405_179399406insG	ENST00000589042.1	-	358	102160_102161	c.101936_101937insC	c.(101935-101937)cgafs	p.R33979fs	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.R31411fs|TTN_ENST00000460472.2_Frame_Shift_Ins_p.R24914fs|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.R25106fs|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.R32338fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.R25039fs|TTN-AS1_ENST00000588257.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32338	Ig-like 150.						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)			CATAGTATTCTGGGGCAGTGAA	0.450													8	69	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179447832	179447833	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179447832_179447833insT	ENST00000589042.1	-	313	65921_65922	c.65697_65698insA	c.(65695-65700)aaatggfs	p.W21900fs	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.W19332fs|TTN_ENST00000460472.2_Frame_Shift_Ins_p.W12835fs|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.W13027fs|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.W20259fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.W12960fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20259	Fibronectin type-III 59.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D12960fs*40(1)|p.D12835fs*40(1)|p.D13027fs*40(1)|p.D19330fs*40(1)		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)			AGTGTGCCATCTTTTTTCCAAG	0.460													9	21	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179638572	179638573	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179638572_179638573delAG	ENST00000589042.1	-	31	7546_7547	c.7322_7323delCT	c.(7321-7323)tfs	p.S2441fs	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.S2441fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.S2395fs|TTN_ENST00000342175.6_Frame_Shift_Del_p.S2395fs|TTN_ENST00000591111.1_Frame_Shift_Del_p.S2441fs|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Frame_Shift_Del_p.S2441fs|TTN_ENST00000359218.5_Frame_Shift_Del_p.S2395fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2167	Ig-like 13.|Ig-like 14.						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)			CACTATAGACAGAGACACGCCC	0.381													15	69	---	---	---	---					
ITGAV	3685	broad.mit.edu	37	2	187521085	187521085	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:187521085delG	ENST00000261023.3	+	17	1950	c.1676delG	c.(1675-1677)agfs	p.R559fs	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Frame_Shift_Del_p.R513fs|ITGAV_ENST00000374907.3_Frame_Shift_Del_p.R523fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		ACTATTTCAAGGGGGGGACTG	0.428													67	179	---	---	---	---					
CCDC108	255101	broad.mit.edu	37	2	219868892	219868893	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:219868892_219868893delCT	ENST00000341552.5	-	33	5419_5420	c.5336_5337delAG	c.(5335-5337)gfs	p.E1784fs	AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Frame_Shift_Del_p.E1784fs|CCDC108_ENST00000441968.1_Frame_Shift_Del_p.E1784fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1784	Glu-rich.					integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		cttcttcctcctcttcctcctc	0.545													30	67	---	---	---	---					
NMUR1	10316	broad.mit.edu	37	2	232389804	232389804	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:232389804delG	ENST00000305141.4	-	3	1364	c.1231delC	c.(1231-1233)tgfs	p.L411fs		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	411					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TTCCCAGCCAGGGGGTGGACC	0.652													8	84	---	---	---	---					
FGD5P1	0	broad.mit.edu	37	3	13976837	13976837	+	RNA	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:13976837delT	ENST00000502451.1	+	0	1770					NR_036481.1																						GCTGTTCTCCTTTTTCTGAGT	0.527													9	14	---	---	---	---					
COL7A1	1294	broad.mit.edu	37	3	48612871	48612871	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:48612871delG	ENST00000328333.8	-	73	6188	c.6081delC	c.(6079-6081)ccfs	p.P2027fs	COL7A1_ENST00000454817.1_Frame_Shift_Del_p.P1995fs	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2027	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.P2029fs*177(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGGAAGGCCCGGGGGGGCCCC	0.721													11	27	---	---	---	---					
COL7A1	1294	broad.mit.edu	37	3	48612934	48612935	+	Frame_Shift_Ins	INS	-	-	C	rs121912842		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:48612934_48612935insC	ENST00000328333.8	-	73	6124_6125	c.6017_6018insG	c.(6016-6018)ggafs	p.G2006fs	COL7A1_ENST00000454817.1_Frame_Shift_Ins_p.G1974fs	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2006	Triple-helical region.		G -> A (in DDEB).|G -> D (in DDEB; interferes with collagen VII folding and secretion).		cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCCACGGTCGCCCTTCAGCCC	0.688													14	40	---	---	---	---					
APEH	327	broad.mit.edu	37	3	49712736	49712736	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:49712736delG	ENST00000296456.5	+	3	666	c.266delG	c.(265-267)cgfs	p.R89fs	APEH_ENST00000438011.1_Frame_Shift_Del_p.R89fs	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	89					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTGGAGACCCGGGGGGAGTAA	0.562													9	21	---	---	---	---					
AMIGO3	386724	broad.mit.edu	37	3	49756813	49756814	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:49756813_49756814insG	ENST00000535833.1	-	10	3535_3536	c.85_86insC	c.(85-87)tgcfs	p.C29fs	RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Frame_Shift_Ins_p.C29fs|RNF123_ENST00000497099.1_Intron|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000433785.1_Intron			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	29	LRRNT.				heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTGGAGCGCACGGGGCGGGAAA	0.653											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	114	---	---	---	---					
CACNA1D	776	broad.mit.edu	37	3	53834368	53834370	+	In_Frame_Del	DEL	AGA	AGA	-	rs147973409	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:53834368_53834370delAGA	ENST00000288139.3	+	42	5194_5196	c.5076_5078delAGA	c.(5074-5079)cga>cg	p.RE1692del	CACNA1D_ENST00000544977.1_In_Frame_Del_p.RE51del|CACNA1D_ENST00000350061.5_In_Frame_Del_p.RE1672del|CACNA1D_ENST00000422281.2_In_Frame_Del_p.RE1657del	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1672					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AAACAAAACGAGAAGAAGAAGAT	0.468													34	118	---	---	---	---					
FAM86DP	0	broad.mit.edu	37	3	75476776	75476776	+	RNA	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:75476776delG	ENST00000459803.1	-	0	580					NR_024241.1																						ATGAATGCCCGGGGGCGGTAC	0.587													16	22	---	---	---	---					
COL8A1	1295	broad.mit.edu	37	3	99514755	99514755	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:99514755delG	ENST00000261037.3	+	5	2390	c.2010delG	c.(2008-2010)aafs	p.K670fs	COL8A1_ENST00000273342.4_Frame_Shift_Del_p.K670fs	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	670	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						TTCACTGCAAGGGGGGCAACG	0.527													15	81	---	---	---	---					
EPHB1	2047	broad.mit.edu	37	3	134670328	134670328	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:134670328delG	ENST00000398015.3	+	3	609	c.239delG	c.(238-240)cgfs	p.R80fs	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	80						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						ATCAACCGGCGGGGGGCCCAT	0.547													9	25	---	---	---	---					
DHX36	170506	broad.mit.edu	37	3	154032977	154032978	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:154032977_154032978insT	ENST00000496811.1	-	3	540_541	c.460_461insA	c.(460-462)gttfs	p.V154fs	DHX36_ENST00000329463.5_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000308361.6_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000544526.1_Frame_Shift_Ins_p.V154fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	154						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GATTCTAAACATTTTTTTTTCT	0.337													13	32	---	---	---	---					
LINC00969	0	broad.mit.edu	37	3	195392917	195392917	+	RNA	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:195392917delT	ENST00000445430.1	+	0	647																											CTTCTTGCCCTTTTTTTTTCT	0.418													3	6	---	---	---	---					
ZNF518B	85460	broad.mit.edu	37	4	10445201	10445202	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:10445201_10445202insA	ENST00000326756.3	-	3	3189_3190	c.2751_2752insT	c.(2749-2754)ttaggtfs	p.LG917fs		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	917					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CTTGCAACCTGAAAAATTGAAG	0.411													15	157	---	---	---	---					
PDS5A	23244	broad.mit.edu	37	4	39878622	39878623	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:39878622_39878623insG	ENST00000303538.8	-	19	2682_2683	c.2143_2144insC	c.(2143-2145)gatfs	p.D715fs		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	715					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CGATCGTATCTGGGGAAGGTCT	0.381													16	46	---	---	---	---					
DANCR	0	broad.mit.edu	37	4	53579389	53579389	+	RNA	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:53579389delA	ENST00000411630.2	+	0	234					NR_024031.1																						AAAATCAAAGAAAAAAAATCA	0.423													9	75	---	---	---	---					
KIAA1109	84162	broad.mit.edu	37	4	123260496	123260497	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:123260496_123260497delTT	ENST00000264501.4	+	72	12658_12659	c.12285_12286delTT	c.(12283-12288)actafs	p.TL4095fs	KIAA1109_ENST00000388738.3_Frame_Shift_Del_p.TL4095fs			Q2LD37	K1109_HUMAN	KIAA1109	4095					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTGCAGAGACTTTATCCCCTGG	0.411													31	85	---	---	---	---					
SCLT1	132320	broad.mit.edu	37	4	129864163	129864163	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:129864163delT	ENST00000281142.5	-	17	2123	c.1620delA	c.(1618-1620)aafs	p.K540fs	SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000502495.1_5'UTR	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	540						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTACTTTGGCTTTTTTTTGAG	0.353													24	66	---	---	---	---					
CLCN3	0	broad.mit.edu	37	4	170613460	170613460	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:170613460delA	ENST00000513761.1	+	7	1484	c.925delA	c.(925-927)aafs	p.K310fs	CLCN3_ENST00000347613.4_Frame_Shift_Del_p.K310fs|CLCN3_ENST00000360642.3_Frame_Shift_Del_p.K310fs|CLCN3_ENST00000504131.2_Frame_Shift_Del_p.K293fs	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	310					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		AAACGAAGCTAAAAAAAGGGA	0.308													15	125	---	---	---	---					
ACSL1	2180	broad.mit.edu	37	4	185697797	185697797	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:185697797delA	ENST00000515030.1	-	7	922	c.597delT	c.(595-597)ttfs	p.F199fs	ACSL1_ENST00000454703.2_Frame_Shift_Del_p.F28fs|ACSL1_ENST00000507295.1_Frame_Shift_Del_p.F165fs|ACSL1_ENST00000513317.1_Frame_Shift_Del_p.F199fs|ACSL1_ENST00000281455.2_Frame_Shift_Del_p.F199fs|ACSL1_ENST00000437665.3_Frame_Shift_Del_p.F28fs|ACSL1_ENST00000504900.1_Frame_Shift_Del_p.F199fs|ACSL1_ENST00000504342.1_Frame_Shift_Del_p.F199fs			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	199					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCTTGTCAACAAAAACCAGAG	0.393													16	39	---	---	---	---					
BRD9	65980	broad.mit.edu	37	5	889777	889777	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:889777delA	ENST00000323510.4	-	1	37	c.38delT	c.(37-39)tcfs	p.F13fs	BRD9_ENST00000483173.1_Intron|BRD9_ENST00000467963.1_Intron|BRD9_ENST00000388890.4_Frame_Shift_Del_p.F13fs|BRD9_ENST00000435709.2_Frame_Shift_Del_p.F13fs			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	0							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			CAATTTAAGGAAAAAAAAATT	0.448													19	69	---	---	---	---					
CWC27	10283	broad.mit.edu	37	5	64100133	64100134	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:64100133_64100134insA	ENST00000508024.1	+	10	1059_1060	c.858_859insA	c.(856-861)gcaaaafs	p.AK286fs	CWC27_ENST00000381070.3_Frame_Shift_Ins_p.AK286fs			Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	286					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	p.K288fs*2(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AAAGAATTGCCAAAAAATTAAA	0.391													17	49	---	---	---	---					
ZCCHC10	54819	broad.mit.edu	37	5	132335879	132335879	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:132335879delG	ENST00000513541.1	-	4	295	c.284delC	c.(283-285)ctfs	p.P95fs	ZCCHC10_ENST00000355372.2_Intron|ZCCHC10_ENST00000509437.1_Intron|ZCCHC10_ENST00000513848.1_Intron|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000324170.3_Intron|ZCCHC10_ENST00000509008.1_Frame_Shift_Del_p.P73fs			Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	0							nucleic acid binding|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATAAACACGAGGGGGAAAAAA	0.368													19	38	---	---	---	---					
TGFBI	7045	broad.mit.edu	37	5	135382150	135382150	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:135382150delC	ENST00000442011.2	+	4	586	c.425delC	c.(424-426)gcfs	p.A142fs	TGFBI_ENST00000305126.8_Frame_Shift_Del_p.A142fs	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	142	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACCATCTTCGCCCCTAGCAAC	0.642													16	13	---	---	---	---					
REEP2	51308	broad.mit.edu	37	5	137777145	137777147	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:137777145_137777147delCTC	ENST00000378339.2	+	3	369_371	c.177_179delCTC	c.(175-180)ctc>ct	p.LS59del	REEP2_ENST00000254901.5_In_Frame_Del_p.LS59del|REEP2_ENST00000506158.1_In_Frame_Del_p.LS21del|REEP2_ENST00000464751.2_3'UTR	NM_001271803.1	NP_001258732.1	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	59						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ATATAGTGCTCTCCTGGTGAGGT	0.591													21	67	---	---	---	---					
NRG2	9542	broad.mit.edu	37	5	139260510	139260510	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:139260510delC	ENST00000541337.1	-	3	1151	c.922delG	c.(922-924)agfs	p.E308fs	NRG2_ENST00000545385.1_Frame_Shift_Del_p.E308fs|NRG2_ENST00000289422.7_Frame_Shift_Del_p.E308fs|NRG2_ENST00000394770.1_Frame_Shift_Del_p.E308fs|NRG2_ENST00000340391.3_Frame_Shift_Del_p.E105fs|NRG2_ENST00000361474.1_Frame_Shift_Del_p.E308fs|NRG2_ENST00000289409.4_Frame_Shift_Del_p.E308fs|NRG2_ENST00000358522.3_Frame_Shift_Del_p.E308fs|NRG2_ENST00000518130.1_5'UTR	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	351	Ig-like C2-type.				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGACATACTCCCCAGCGTCC	0.607													9	82	---	---	---	---					
PCDHB15	0	broad.mit.edu	37	5	140626377	140626378	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140626377_140626378delAG	ENST00000231173.3	+	1	1231_1232	c.1231_1232delAG	c.(1231-1233)afs	p.R411fs		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		411	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGCTGGACAGAGAGACCAGA	0.475													36	77	---	---	---	---					
PCDHGA6	0	broad.mit.edu	37	5	140755586	140755586	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140755586delG	ENST00000517434.1	+	1	1936	c.1936delG	c.(1936-1938)tcfs	p.V646fs	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGGTGGCCGTCCAGGACCA	0.701													54	108	---	---	---	---					
ZNF454	285676	broad.mit.edu	37	5	178392010	178392010	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:178392010delA	ENST00000320129.3	+	5	908	c.605delA	c.(604-606)gafs	p.E202fs	ZNF454_ENST00000519564.1_Frame_Shift_Del_p.E202fs	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		ATTCATAATGAAAAAAATGCA	0.348													7	48	---	---	---	---					
EXOC2	55770	broad.mit.edu	37	6	637793	637794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:637793_637794insG	ENST00000230449.4	-	2	160_161	c.25_26insC	c.(25-27)tgtfs	p.C9fs	EXOC2_ENST00000448181.3_Intron	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	9	IPT/TIG.				exocytosis|protein transport			p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GCCGGTCACAAGGGGGGGTTGT	0.485													38	124	---	---	---	---					
MDC1	9656	broad.mit.edu	37	6	30673764	30673764	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:30673764delG	ENST00000376406.3	-	10	3843	c.3196delC	c.(3196-3198)ttfs	p.L1067fs	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Frame_Shift_Del_p.L803fs	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1067	Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GGAGAAAGAAGGGGCGGAGGT	0.547								Other conserved DNA damage response genes					45	162	---	---	---	---					
PRRT1	80863	broad.mit.edu	37	6	32118447	32118447	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:32118447delG	ENST00000211413.5	-	2	380	c.256delC	c.(256-258)acfs	p.H87fs	PRRT1_ENST00000375150.2_Intron|PRRT1_ENST00000375152.2_Intron	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	87					response to biotic stimulus	integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GGGGCGTGGTGGGGGGGCCTC	0.756													3	4	---	---	---	---					
SCUBE3	222663	broad.mit.edu	37	6	35200688	35200688	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:35200688delG	ENST00000274938.7	+	5	531	c.531delG	c.(529-531)aafs	p.K177fs	SCUBE3_ENST00000394681.1_Frame_Shift_Del_p.K177fs	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	177	EGF-like 4.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						AGACACCCAAGGGGGGTATTG	0.517													36	134	---	---	---	---					
CAPN11	11131	broad.mit.edu	37	6	44141052	44141052	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:44141052delC	ENST00000542245.1	+	7	798	c.760delC	c.(760-762)ccfs	p.P255fs	CAPN11_ENST00000398776.1_Frame_Shift_Del_p.P255fs			Q9UMQ6	CAN11_HUMAN	calpain 11	255	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.P254S(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACTCCAGAGGCCCCCTCAGAA	0.597											OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	78	---	---	---	---					
COL9A1	1297	broad.mit.edu	37	6	70991121	70991121	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:70991121delG	ENST00000357250.6	-	8	1006	c.848delC	c.(847-849)ctfs	p.P283fs	COL9A1_ENST00000370496.3_Frame_Shift_Del_p.P283fs|COL9A1_ENST00000320755.7_Frame_Shift_Del_p.P40fs|COL9A1_ENST00000370499.4_Frame_Shift_Del_p.P40fs	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	283	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TGGAACTCCAGGGGGGCCCGG	0.592													10	50	---	---	---	---					
TTK	7272	broad.mit.edu	37	6	80720539	80720539	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:80720539delA	ENST00000509894.1	+	5	1307	c.478delA	c.(478-480)aafs	p.K161fs	TTK_ENST00000369798.2_Frame_Shift_Del_p.K161fs|TTK_ENST00000230510.3_Frame_Shift_Del_p.K161fs			P33981	TTK_HUMAN	TTK protein kinase	161					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AGGTAATGTCAAAAAAAGTAA	0.383													11	39	---	---	---	---					
DOPEY1	23033	broad.mit.edu	37	6	83810593	83810593	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:83810593delT	ENST00000349129.2	+	4	568	c.308delT	c.(307-309)ctfs	p.L103fs	DOPEY1_ENST00000237163.5_Frame_Shift_Del_p.L103fs|DOPEY1_ENST00000536812.1_Frame_Shift_Del_p.L103fs|DOPEY1_ENST00000369739.3_Frame_Shift_Del_p.L103fs	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	103					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)		GCCAAAGATCTTTTTTTATAT	0.284													48	150	---	---	---	---					
RP11-436D23.1	0	broad.mit.edu	37	6	98627615	98627616	+	RNA	INS	-	-	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:98627615_98627616insC	ENST00000607823.1	+	0	352																											TGAGAAGAGTGCCCCCCCTCCC	0.564													3	3	---	---	---	---					
SOD2	6648	broad.mit.edu	37	6	160103610	160103610	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:160103610delT	ENST00000538183.1	-	5	744	c.584delA	c.(583-585)atfs	p.N195fs	SOD2_ENST00000367054.2_Frame_Shift_Del_p.N156fs|SOD2_ENST00000546087.1_Frame_Shift_Del_p.N149fs|SOD2_ENST00000367055.4_Frame_Shift_Del_p.N195fs|SOD2_ENST00000444946.2_Frame_Shift_Del_p.N135fs|SOD2_ENST00000337404.4_Frame_Shift_Del_p.N156fs	NM_000636.2	NP_000627.2	P04179	SODM_HUMAN	superoxide dismutase 2, mitochondrial	195					age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure		manganese ion binding|superoxide dismutase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)		AGGCCTGACATTTTTATACTG	0.403													15	35	---	---	---	---					
TCP10	6953	broad.mit.edu	37	6	167787857	167787858	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:167787857_167787858insG	ENST00000366827.2	-	7	981_982	c.770_771insC	c.(769-771)cgafs	p.R257fs	TCP10_ENST00000397829.4_Frame_Shift_Ins_p.R257fs			Q12799	TCP10_HUMAN	t-complex 10	284						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CTGCACTGTCTGGGGCAGAACT	0.559													7	31	---	---	---	---					
SDK1	221935	broad.mit.edu	37	7	3998621	3998622	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:3998621_3998622delTG	ENST00000404826.2	+	8	1348_1349	c.1209_1210delTG	c.(1207-1212)actgfs	p.TV403fs	SDK1_ENST00000389531.3_Frame_Shift_Del_p.TV403fs	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	403	Ig-like C2-type 4.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TAGAAGAAACTGTGGACATCGG	0.465													35	127	---	---	---	---					
SDK1	221935	broad.mit.edu	37	7	4185504	4185504	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:4185504delG	ENST00000404826.2	+	29	4518	c.4379delG	c.(4378-4380)tgfs	p.W1460fs	SDK1_ENST00000389531.3_Frame_Shift_Del_p.W1460fs	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1460	Fibronectin type-III 8.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGGCAGGGCTGGGGGGAGCCA	0.642													38	70	---	---	---	---					
CYTH3	9265	broad.mit.edu	37	7	6204578	6204578	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:6204578delT	ENST00000350796.3	-	13	1333	c.1197delA	c.(1195-1197)aafs	p.K399fs	CYTH3_ENST00000396741.2_Frame_Shift_Del_p.K314fs	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	400					regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						AGGAAAGCTATTTTTTATTGG	0.532													14	521	---	---	---	---					
PMS2CL	0	broad.mit.edu	37	7	6755614	6755614	+	RNA	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:6755614delG	ENST00000486256.1	+	0	346					NR_002217.1																						CCAAGTAGCTGGGGACAGCTA	0.557													8	26	---	---	---	---					
AGR3	155465	broad.mit.edu	37	7	16913405	16913405	+	Splice_Site	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:16913405delT	ENST00000310398.2	-	3	242	c.173_splice	c.e3+1	p.S58_splice	AGR3_ENST00000402239.3_Splice_Site_p.S58_splice	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	58						extracellular region				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GCATGTTACCTTTTTTGAGCA	0.333													22	47	---	---	---	---					
URGCP	55665	broad.mit.edu	37	7	43917567	43917567	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:43917567delC	ENST00000336086.6	-	4	3602	c.1366delG	c.(1366-1368)acfs	p.D456fs	URGCP_ENST00000453200.1_Frame_Shift_Del_p.D499fs|URGCP_ENST00000443736.1_Frame_Shift_Del_p.D456fs|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000402306.3_Frame_Shift_Del_p.D490fs|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Frame_Shift_Del_p.D456fs|URGCP_ENST00000447717.3_Frame_Shift_Del_p.D456fs			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	499					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCCAGGGGTCCCCCTGCAGC	0.602													42	111	---	---	---	---					
POLM	27434	broad.mit.edu	37	7	44120414	44120414	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:44120414delG	ENST00000242248.5	-	2	391	c.290delC	c.(289-291)cafs	p.P97fs	POLM_ENST00000395831.3_Frame_Shift_Del_p.P97fs|POLM_ENST00000335195.6_Frame_Shift_Del_p.P97fs	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	97	BRCT.				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CAGCAGAGCTGGGGGGGTGCA	0.637								DNA polymerases (catalytic subunits)					12	151	---	---	---	---					
CCT6P3	0	broad.mit.edu	37	7	64526690	64526690	+	RNA	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:64526690delT	ENST00000426828.1	+	0	401					NR_033416.1																						AGGCCCTTCATTTTTTGGAAG	0.408													17	42	---	---	---	---					
CLIP2	7461	broad.mit.edu	37	7	73731913	73731913	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:73731913delG	ENST00000223398.6	+	2	364	c.37delG	c.(37-39)ggfs	p.G14fs	CLIP2_ENST00000395060.1_Frame_Shift_Del_p.G14fs|CLIP2_ENST00000361545.5_Frame_Shift_Del_p.G14fs	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	14						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CCCCGGCCGTGGGGGGAAGCA	0.657													9	187	---	---	---	---					
NCF1	653361	broad.mit.edu	37	7	74202414	74202414	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:74202414delG	ENST00000289473.4	+	9	957	c.887delG	c.(886-888)cgfs	p.R296fs		NM_000265.4	NP_000256.3	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	296	Arg/Lys-rich (highly basic).				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						CAGATCAAGCGGGGGGCGCCG	0.667													3	5	---	---	---	---					
DTX2	113878	broad.mit.edu	37	7	76111999	76112000	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:76111999_76112000insG	ENST00000324432.5	+	5	953_954	c.443_444insG	c.(442-444)cggfs	p.R148fs	DTX2_ENST00000307569.8_Frame_Shift_Ins_p.R148fs|DTX2_ENST00000430490.2_Frame_Shift_Ins_p.R148fs|DTX2_ENST00000446600.1_Frame_Shift_Ins_p.R57fs|DTX2_ENST00000446820.2_Frame_Shift_Ins_p.R148fs|DTX2_ENST00000413936.2_Frame_Shift_Ins_p.R148fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	148	WWE 2.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						TTGGCCCCCCTGGGGTACAACT	0.629													7	64	---	---	---	---					
MOSPD3	64598	broad.mit.edu	37	7	100210470	100210470	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:100210470delG	ENST00000393950.2	+	1	338	c.56delG	c.(55-57)cgfs	p.R19fs	MOSPD3_ENST00000379527.2_Frame_Shift_Del_p.R19fs|MOSPD3_ENST00000223054.4_Frame_Shift_Del_p.R19fs|MOSPD3_ENST00000424091.2_Frame_Shift_Del_p.R19fs	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	19						integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ccccctgggcgggggtcccgg	0.736													14	55	---	---	---	---					
DPY19L2P2	0	broad.mit.edu	37	7	102902926	102902926	+	RNA	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:102902926delA	ENST00000312132.4	-	0	2401																											TTAAAACATGAAAAaaaaagg	0.383													4	4	---	---	---	---					
SLC26A4	5172	broad.mit.edu	37	7	107323940	107323940	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:107323940delA	ENST00000265715.3	+	8	1183	c.959delA	c.(958-960)gafs	p.E320fs		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	320					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GCCAACCTGGAAAAAAATTAC	0.343									Pendred syndrome				17	56	---	---	---	---					
ASB15	142685	broad.mit.edu	37	7	123256478	123256478	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:123256478delA	ENST00000451558.1	+	8	742	c.221delA	c.(220-222)gafs	p.E74fs	RP11-390E23.3_ENST00000422401.1_RNA|RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000451215.1_Frame_Shift_Del_p.E74fs|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000540573.1_Frame_Shift_Del_p.E74fs|ASB15_ENST00000275699.3_Frame_Shift_Del_p.E74fs|ASB15_ENST00000434204.1_Frame_Shift_Del_p.E74fs			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	74					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GAAGCTGATGAAAAAGGATGG	0.353													16	14	---	---	---	---					
HIPK2	28996	broad.mit.edu	37	7	139299042	139299042	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:139299042delG	ENST00000406875.3	-	8	2074	c.1980delC	c.(1978-1980)ccfs	p.P660fs	HIPK2_ENST00000342645.6_Frame_Shift_Del_p.P660fs|HIPK2_ENST00000428878.2_Frame_Shift_Del_p.P633fs	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	660	Interaction with SKI and SMAD1.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CTTGGAAGCCGGGGGGACACA	0.602													10	33	---	---	---	---					
SSPO	23145	broad.mit.edu	37	7	149493460	149493460	+	RNA	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:149493460delT	ENST00000378016.2	+	0	6536							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCTGGCAGCTTTTCCCCAGA	0.572													12	128	---	---	---	---					
NOS3	4846	broad.mit.edu	37	7	150707211	150707211	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:150707211delC	ENST00000297494.3	+	21	2878	c.2521delC	c.(2521-2523)ccfs	p.P842fs	NOS3_ENST00000461406.1_Frame_Shift_Del_p.P636fs	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	842	FAD-binding FR-type.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	AGGTGGCCCTCCCCCCGGCTG	0.652													9	83	---	---	---	---					
SGK223	0	broad.mit.edu	37	8	8176649	8176649	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:8176649delG	ENST00000520004.1	-	6	3500	c.3236delC	c.(3235-3237)ctfs	p.P1079fs	SGK223_ENST00000330777.4_Frame_Shift_Del_p.P1079fs			Q86YV5	SG223_HUMAN		1079	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										CTCCTGGGCAGGGGGGTGTGT	0.706													21	153	---	---	---	---					
TNKS	8658	broad.mit.edu	37	8	9623921	9623922	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:9623921_9623922insTA	ENST00000310430.6	+	25	3752_3753	c.3726_3727insTA	c.(3724-3729)tgatatfs	p.*Y1242fs	TNKS_ENST00000518281.1_Frame_Shift_Ins_p.*Y1005fs	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1242	PARP catalytic.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		ACAGGTCATGCTATATATGTCA	0.406													9	123	---	---	---	---					
ADAM28	10863	broad.mit.edu	37	8	24167473	24167473	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:24167473delA	ENST00000265769.4	+	3	327	c.217delA	c.(217-219)aafs	p.K74fs	ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000437154.2_Frame_Shift_Del_p.K74fs|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	74					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.N75fs*15(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GCTTTATTTGAAAAAAAACAA	0.333													18	63	---	---	---	---					
AGPAT6	137964	broad.mit.edu	37	8	41456800	41456800	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:41456800delA	ENST00000396987.3	+	2	1069	c.142delA	c.(142-144)aafs	p.K48fs		NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	48					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			ACTCTACATGAAAAGTCTGTT	0.428													33	91	---	---	---	---					
RP11-586K2.1	0	broad.mit.edu	37	8	89498122	89498122	+	RNA	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:89498122delA	ENST00000521433.1	+	0	179				RP11-586K2.1_ENST00000523254.1_RNA																							aacagctatgaaaaaaaaaac	0.383													8	6	---	---	---	---					
VPS13B	157680	broad.mit.edu	37	8	100887781	100887781	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:100887781delC	ENST00000358544.2	+	62	12067	c.11956delC	c.(11956-11958)ccfs	p.P3987fs	VPS13B_ENST00000357162.2_Frame_Shift_Del_p.P3962fs|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3987					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGCAGAACCTCCCCCCTCCAC	0.468													40	100	---	---	---	---					
TRPS1	7227	broad.mit.edu	37	8	116426269	116426270	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:116426269_116426270insT	ENST00000395715.3	-	7	4443_4444	c.3866_3867insA	c.(3865-3867)aggfs	p.R1289fs	TRPS1_ENST00000520276.1_Frame_Shift_Ins_p.R1280fs|TRPS1_ENST00000220888.5_Frame_Shift_Ins_p.R1276fs|TRPS1_ENST00000519076.1_Frame_Shift_Ins_p.R1030fs	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1276					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N1289fs*>6(1)|p.N1276fs*>6(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TAGGTTTTCCATTTTTTTCCAC	0.381									Langer-Giedion syndrome				38	110	---	---	---	---					
FAM83H	286077	broad.mit.edu	37	8	144812678	144812679	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:144812678_144812679delTT	ENST00000388913.3	-	2	199_200	c.74_75delAA	c.(73-75)afs	p.K25fs		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	25					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGTAGTACTCTTTGTAGTGAGG	0.683													18	42	---	---	---	---					
RECQL4	9401	broad.mit.edu	37	8	145742551	145742551	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:145742551delC	ENST00000428558.2	-	4	278	c.237delG	c.(235-237)ggfs	p.G79fs	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	79					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCAGATGGGGCCCCCAGCAGC	0.692			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				7	26	---	---	---	---					
SMARCA2	6595	broad.mit.edu	37	9	2119528	2119528	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:2119528delT	ENST00000382203.1	+	26	3964	c.3755delT	c.(3754-3756)ctfs	p.L1252fs	SMARCA2_ENST00000357248.2_Frame_Shift_Del_p.L1252fs|SMARCA2_ENST00000349721.2_Frame_Shift_Del_p.L1252fs|SMARCA2_ENST00000382194.1_Frame_Shift_Del_p.L1252fs			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1252					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GAATTTGACCTTTTTATGGTA	0.413													15	36	---	---	---	---					
FKTN	2218	broad.mit.edu	37	9	108382270	108382270	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:108382270delT	ENST00000223528.2	+	9	1224	c.1100delT	c.(1099-1101)gtfs	p.V367fs	FKTN_ENST00000357998.5_Frame_Shift_Del_p.V367fs|FKTN_ENST00000448551.2_Frame_Shift_Del_p.V367fs|FKTN_ENST00000602661.1_Frame_Shift_Del_p.V367fs|FKTN_ENST00000540160.1_Intron	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	367					muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						AAACTTGATGTTTTTTTCTTC	0.348													18	23	---	---	---	---					
ZFP37	7539	broad.mit.edu	37	9	115806153	115806154	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:115806153_115806154insT	ENST00000374227.3	-	4	771_772	c.744_745insA	c.(742-747)aaatgafs	p.*249fs	ZFP37_ENST00000553380.1_Frame_Shift_Ins_p.*264fs|ZFP37_ENST00000555206.1_Frame_Shift_Ins_p.*250fs			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	249						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K248K(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AATTTGTCATGTTTTTTGCCAG	0.361													21	161	---	---	---	---					
ABL1	25	broad.mit.edu	37	9	133759623	133759623	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:133759623delC	ENST00000318560.5	+	11	2327	c.1946delC	c.(1945-1947)acfs	p.T649fs		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	649					actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CTGGCTTTCACCCCCTTGGAC	0.682			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								31	80	---	---	---	---					
SURF4	6836	broad.mit.edu	37	9	136230378	136230380	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:136230378_136230380delCTT	ENST00000371989.3	-	6	928_930	c.799_801delAAG	c.(799-801)del	p.K267del	SURF4_ENST00000545297.1_3'UTR|SURF4_ENST00000485435.2_Intron	NM_033161.2	NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	267						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		GTTACCACTCCTTCTTCTTCTCA	0.547													9	30	---	---	---	---					
NSUN6	221078	broad.mit.edu	37	10	18834895	18834895	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:18834895delA	ENST00000377304.4	-	11	1795	c.1377delT	c.(1375-1377)ttfs	p.F459fs		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	459							methyltransferase activity|RNA binding			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						ATTTTGCAATAAAAAAACCTA	0.393													10	181	---	---	---	---					
RP11-324H6.5	0	broad.mit.edu	37	10	51821328	51821328	+	RNA	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:51821328delG	ENST00000456967.1	-	0	1306					NR_038275.1																						CGGTCAGCTTGGGGGGTGCGA	0.517													58	144	---	---	---	---					
ZMIZ1	57178	broad.mit.edu	37	10	81072446	81072446	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:81072446delC	ENST00000334512.5	+	25	3716	c.3144delC	c.(3142-3144)gafs	p.D1048fs	ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1048					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTTATCTGGACCCCCCCGACC	0.557													73	234	---	---	---	---					
ATAD1	84896	broad.mit.edu	37	10	89550131	89550132	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:89550131_89550132delTG	ENST00000308448.7	-	4	695_696	c.317_318delCA	c.(316-318)afs	p.T106fs	ATAD1_ENST00000541004.1_Frame_Shift_Del_p.T106fs|ATAD1_ENST00000400215.3_Frame_Shift_Del_p.T48fs|ATAD1_ENST00000328142.3_Frame_Shift_Del_p.T106fs|ATAD1_ENST00000495903.1_5'UTR	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	106						peroxisome	ATP binding|nucleoside-triphosphatase activity			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		GTAAGATGACTGTGTCTTTCAG	0.361													18	44	---	---	---	---					
PSD	5662	broad.mit.edu	37	10	104176689	104176689	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:104176689delG	ENST00000020673.5	-	2	633	c.107delC	c.(106-108)cafs	p.P36fs	PSD_ENST00000492902.2_5'UTR|PSD_ENST00000406432.1_Frame_Shift_Del_p.P36fs	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	36	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CATGCTGGCTGGGGGGCTCTG	0.677													8	82	---	---	---	---					
OR8U1	219417	broad.mit.edu	37	11	56143598	56143613	+	Frame_Shift_Del	DEL	TCCTATTGCCACTCCA	TCCTATTGCCACTCCA	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:56143598_56143613delTCCTATTGCCACTCCA	ENST00000302270.1	+	1	499_514	c.499_514delTCCTATTGCCACTCCA	c.(499-516)acfs	p.SYCHSN167fs		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					CTTCCGCCTCTCCTATTGCCACTCCAACATTGTCAA	0.458													13	367	---	---	---	---					
RPS6KA4	8986	broad.mit.edu	37	11	64129351	64129351	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:64129351delC	ENST00000528057.1	+	8	871	c.783delC	c.(781-783)ttfs	p.F261fs	RPS6KA4_ENST00000294261.4_Frame_Shift_Del_p.F261fs|RPS6KA4_ENST00000334205.4_Frame_Shift_Del_p.F261fs	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	261	Protein kinase 1.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CCCCTCCCTTCCCCCCTCGGA	0.692													40	133	---	---	---	---					
CNIH2	254263	broad.mit.edu	37	11	66050214	66050215	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:66050214_66050215insA	ENST00000528852.1	+	3	428_429	c.161_162insA	c.(160-162)taafs	p.*54fs	CNIH2_ENST00000311445.6_Frame_Shift_Ins_p.*54fs|CNIH2_ENST00000530519.1_3'UTR			Q6PI25	CNIH2_HUMAN	cornichon family AMPA receptor auxiliary protein 2	54					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|dendritic spine|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						CGCGAGCGTTTAAAAAACATCG	0.649											OREG0021100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	41	---	---	---	---					
MTL5	9633	broad.mit.edu	37	11	68517872	68517872	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:68517872delC	ENST00000443940.2	-	2	343	c.257delG	c.(256-258)gcfs	p.G86fs	MTL5_ENST00000255087.5_Frame_Shift_Del_p.G86fs|MTL5_ENST00000544963.1_Frame_Shift_Del_p.G86fs			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	86					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GTCGCTGTCGCCCCCCGCGAG	0.751													5	7	---	---	---	---					
UCP3	7352	broad.mit.edu	37	11	73714927	73714927	+	Frame_Shift_Del	DEL	G	G	-	rs145884716	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:73714927delG	ENST00000314032.4	-	6	1321	c.769delC	c.(769-771)tcfs	p.L257fs	UCP3_ENST00000426995.2_Frame_Shift_Del_p.L257fs|UCP3_ENST00000348534.4_Frame_Shift_Del_p.L155fs	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	257					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					ATACAGTCGAGGGGGCTGAAG	0.617													42	152	---	---	---	---					
FAM181B	220382	broad.mit.edu	37	11	82443609	82443611	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:82443609_82443611delGGC	ENST00000329203.3	-	1	1295_1297	c.1161_1163delGCC	c.(1159-1164)ccc>cc	p.PP387del		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	387	Pro-rich.									large_intestine(1)|lung(2)|prostate(1)	4						CACCTGATGGGGCGGCGGCGGCG	0.704													7	34	---	---	---	---					
RP11-65M17.3	0	broad.mit.edu	37	11	112332121	112332121	+	RNA	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:112332121delT	ENST00000528496.1	+	0	231																											TGATTTTATGTTTTTTTTTTT	0.378													3	4	---	---	---	---					
VPS26B	112936	broad.mit.edu	37	11	134095073	134095074	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:134095073_134095074delAG	ENST00000281187.5	+	1	535_536	c.57_58delAG	c.(55-60)gcagfs	p.AE19fs	VPS26B_ENST00000525095.2_Frame_Shift_Del_p.AE19fs	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	19					protein transport|vacuolar transport	cytosol|retromer complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		TGAACGATGCAGAGAGTAGGAA	0.619													14	30	---	---	---	---					
WNK1	65125	broad.mit.edu	37	12	1017928	1017928	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:1017928delC	ENST00000537687.1	+	28	8542	c.7899delC	c.(7897-7899)aafs	p.N2633fs	WNK1_ENST00000340908.4_Frame_Shift_Del_p.N1966fs|WNK1_ENST00000535572.1_Frame_Shift_Del_p.N2125fs|WNK1_ENST00000530271.2_Frame_Shift_Del_p.N2871fs|WNK1_ENST00000315939.6_Frame_Shift_Del_p.N2373fs	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2373					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCATCAGCAACCCCCCAGGCT	0.562													27	63	---	---	---	---					
CHD4	1108	broad.mit.edu	37	12	6701672	6701672	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:6701672delT	ENST00000309577.6	-	19	2998	c.2835delA	c.(2833-2835)aafs	p.K945fs	CHD4_ENST00000544484.1_Frame_Shift_Del_p.K942fs|CHD4_ENST00000357008.2_Frame_Shift_Del_p.K945fs|CHD4_ENST00000544040.1_Frame_Shift_Del_p.K938fs			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	945					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TGTCATGCAGTTTTTTTATCT	0.458													36	117	---	---	---	---					
C3AR1	719	broad.mit.edu	37	12	8212678	8212678	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:8212678delA	ENST00000307637.4	-	2	307	c.104delT	c.(103-105)tafs	p.L36fs		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	36					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		CAATCCCAGTAAAAAAGTAAG	0.527													32	97	---	---	---	---					
A2M	2	broad.mit.edu	37	12	9227323	9227323	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:9227323delA	ENST00000318602.7	-	29	3896	c.3589delT	c.(3589-3591)acfs	p.Y1197fs		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1197					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TGGGGTTCGTAAAAATGCCCC	0.512													7	36	---	---	---	---					
TAS2R46	259292	broad.mit.edu	37	12	11214013	11214013	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:11214013delA	ENST00000533467.1	-	1	880	c.881delT	c.(880-882)tgfs	p.L294fs	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	294					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		CACATGCCACAAAACTGAAAG	0.413													12	273	---	---	---	---					
CDKN1B	1027	broad.mit.edu	37	12	12870961	12870962	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:12870961_12870962insT	ENST00000228872.4	+	1	904_905	c.188_189insT	c.(187-189)gttfs	p.V63fs	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.V63fs	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	63					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		TGGAATTTCGATTTTCAGAATC	0.574													38	138	---	---	---	---					
GUCY2C	2984	broad.mit.edu	37	12	14781608	14781608	+	Frame_Shift_Del	DEL	T	T	-	rs145875994		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:14781608delT	ENST00000261170.3	-	20	2357	c.2221delA	c.(2221-2223)ttfs	p.I741fs		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	741	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						GTAGTCTCAATTTTTTTGAAA	0.348													33	66	---	---	---	---					
PTHLH	5744	broad.mit.edu	37	12	28122931	28122932	+	Translation_Start_Site	INS	-	-	AT			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:28122931_28122932insAT	ENST00000395868.3	-	0	48_49				PTHLH_ENST00000545234.1_Intron|PTHLH_ENST00000201015.4_Intron|PTHLH_ENST00000354417.3_Intron|PTHLH_ENST00000535992.1_Intron|PTHLH_ENST00000395872.1_Intron	NM_198964.1	NP_945315.1	P12272	PTHR_HUMAN	parathyroid hormone-like hormone						activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					GCGAAACCCACATATATATACA	0.500													52	155	---	---	---	---					
FAM186B	84070	broad.mit.edu	37	12	49999241	49999241	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:49999241delG	ENST00000257894.2	-	1	181	c.20delC	c.(19-21)cafs	p.P7fs	FAM186B_ENST00000551047.1_Frame_Shift_Del_p.P7fs|FAM186B_ENST00000544141.1_5'UTR	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	7						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CACCAACTGTGGGGGGTCATC	0.522													8	28	---	---	---	---					
KRT78	196374	broad.mit.edu	37	12	53242577	53242577	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:53242577delC	ENST00000304620.4	-	1	201	c.138delG	c.(136-138)ggfs	p.G46fs		NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	46	Gly-rich.|Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CTTCCAGGCACCCCCCAAAGG	0.677													10	33	---	---	---	---					
OR6C65	403282	broad.mit.edu	37	12	55795222	55795222	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:55795222delA	ENST00000379665.2	+	1	1009	c.910delA	c.(910-912)aafs	p.K305fs		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GGAATTCACCAAAAAAATATT	0.353													7	31	---	---	---	---					
MARS	4141	broad.mit.edu	37	12	57883053	57883053	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:57883053delT	ENST00000262027.5	+	3	338	c.204delT	c.(202-204)tafs	p.Y68fs	MARS_ENST00000447721.2_Intron|MARS_ENST00000315473.5_5'UTR	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	68					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TGGGCAGATATTTTTTTTTGT	0.488													20	56	---	---	---	---					
MDM2	4193	broad.mit.edu	37	12	69233090	69233090	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:69233090delC	ENST00000462284.1	+	11	1257	c.955delC	c.(955-957)ccfs	p.P320fs	MDM2_ENST00000545204.1_Intron|MDM2_ENST00000350057.5_Frame_Shift_Del_p.P289fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000393410.1_Frame_Shift_Del_p.P66fs|MDM2_ENST00000393412.3_Frame_Shift_Del_p.P41fs|MDM2_ENST00000393413.3_Frame_Shift_Del_p.P41fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Frame_Shift_Del_p.P119fs|MDM2_ENST00000360430.2_Frame_Shift_Del_p.P119fs|MDM2_ENST00000356290.4_Frame_Shift_Del_p.P144fs|MDM2_ENST00000348801.2_Frame_Shift_Del_p.P88fs|MDM2_ENST00000299252.4_Frame_Shift_Del_p.P144fs|MDM2_ENST00000258148.7_Frame_Shift_Del_p.P265fs|MDM2_ENST00000258149.5_Frame_Shift_Del_p.P259fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000428863.2_Frame_Shift_Del_p.P93fs	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	314	Necessary for interaction with USP2.|Region II.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TGAAATGAATCCCCCCCTTCC	0.428			A		"""sarcoma, glioma, colorectal, other"""								31	94	---	---	---	---					
CPSF6	11052	broad.mit.edu	37	12	69651670	69651670	+	Frame_Shift_Del	DEL	C	C	-	rs61754516		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:69651670delC	ENST00000435070.2	+	5	789	c.679delC	c.(679-681)ccfs	p.P229fs	CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Frame_Shift_Del_p.P229fs|CPSF6_ENST00000456847.3_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	229	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			AGGAGGGCCACCCCCACCTTT	0.483													31	84	---	---	---	---					
DNAH10	196385	broad.mit.edu	37	12	124317860	124317860	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:124317860delA	ENST00000409039.3	+	26	4416	c.4391delA	c.(4390-4392)gafs	p.E1464fs		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1464	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CACAAATGGGAAAAAACGCTT	0.413													11	19	---	---	---	---					
TMEM132D	121256	broad.mit.edu	37	12	130184705	130184705	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:130184705delG	ENST00000422113.2	-	2	944	c.618delC	c.(616-618)ccfs	p.P206fs		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	206						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CAACCACCGTGGGGGGGCTGA	0.711													13	54	---	---	---	---					
PXMP2	5827	broad.mit.edu	37	12	133266904	133266904	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:133266904delA	ENST00000317479.3	+	2	243	c.178delA	c.(178-180)aafs	p.K61fs	PXMP2_ENST00000539093.1_5'UTR|PXMP2_ENST00000543589.1_Frame_Shift_Del_p.K61fs|PXMP2_ENST00000545677.1_5'UTR|RP13-672B3.2_ENST00000537262.1_5'UTR|PXMP2_ENST00000428960.2_5'UTR	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	61						integral to membrane|peroxisomal membrane	protein binding			large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		GAAGAAGCGGAAAAAAGAAAA	0.512													7	119	---	---	---	---					
SACS	26278	broad.mit.edu	37	13	23911843	23911843	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:23911843delA	ENST00000382298.3	-	10	6760	c.6172delT	c.(6172-6174)ctfs	p.S2058fs	SACS_ENST00000382292.3_Frame_Shift_Del_p.S2058fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.S1308fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2058					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACACTTCAGAAAAAAACTGT	0.333													18	31	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	49030367	49030368	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:49030367_49030368insA	ENST00000267163.4	+	19	1980_1981	c.1842_1843insA	c.(1840-1845)aaaaaafs	p.KK614fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	614	Pocket; binds T and E1A.|Spacer.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(10)|p.G617fs*6(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GATCTCCAAAGAAAAAAGGTTC	0.381		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			12	34	---	---	---	---					
MYCBP2	23077	broad.mit.edu	37	13	77844149	77844149	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:77844149delT	ENST00000407578.2	-	7	1504	c.1238delA	c.(1237-1239)agfs	p.K413fs	MYCBP2_ENST00000357337.6_Frame_Shift_Del_p.K375fs|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Frame_Shift_Del_p.K375fs	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAACCAAGACTTTTTTTCTTT	0.289													10	163	---	---	---	---					
UPF3A	65110	broad.mit.edu	37	13	115057211	115057211	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:115057211delA	ENST00000375299.3	+	7	846	c.790delA	c.(790-792)aafs	p.K266fs	UPF3A_ENST00000351487.5_Frame_Shift_Del_p.K233fs|UPF3A_ENST00000475218.2_3'UTR	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	266					mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		agaaagatgcaaaaaaaaaga	0.363													7	10	---	---	---	---					
RP11-536C10.4	0	broad.mit.edu	37	14	19339542	19339543	+	RNA	DEL	AA	AA	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:19339542_19339543delAA	ENST00000552261.1	-	0	52																											AAGCACTCTCAAAAAAAAACAG	0.342													5	3	---	---	---	---					
CPNE6	9362	broad.mit.edu	37	14	24542775	24542776	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:24542775_24542776insT	ENST00000397016.2	+	4	547_548	c.236_237insT	c.(235-237)tttfs	p.F79fs	CPNE6_ENST00000216775.2_Frame_Shift_Ins_p.F79fs|CPNE6_ENST00000560092.1_3'UTR|CPNE6_ENST00000537691.1_Frame_Shift_Ins_p.F134fs			O95741	CPNE6_HUMAN	copine VI (neuronal)	79	C2 1.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GCCCTTGAGTATTTTTTTGAGG	0.594													35	92	---	---	---	---					
RNF31	55072	broad.mit.edu	37	14	24619809	24619809	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:24619809delG	ENST00000324103.6	+	8	1520	c.1200delG	c.(1198-1200)cafs	p.Q400fs	RNF31_ENST00000559275.1_Frame_Shift_Del_p.Q249fs|RNF31_ENST00000382687.3_Frame_Shift_Del_p.Q249fs	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	400	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CTTCCCAGCAGGGGGATGCTT	0.517													64	162	---	---	---	---					
STXBP6	0	broad.mit.edu	37	14	25443930	25443931	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:25443930_25443931delTT	ENST00000323944.5	-	2	545_546	c.94_95delAA	c.(94-96)gfs	p.K32fs	STXBP6_ENST00000396700.1_Frame_Shift_Del_p.K32fs|STXBP6_ENST00000550887.1_Frame_Shift_Del_p.K32fs|STXBP6_ENST00000419632.2_Frame_Shift_Del_p.K32fs|STXBP6_ENST00000358326.2_Frame_Shift_Del_p.K32fs|STXBP6_ENST00000546511.1_Frame_Shift_Del_p.K32fs|STXBP6_ENST00000548724.1_Frame_Shift_Del_p.K32fs			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	32					vesicle-mediated transport	cytoplasm|integral to membrane				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		GAAAGGAATCTTTTTCTTTGTC	0.381													3	3	---	---	---	---					
ZFP36L1	677	broad.mit.edu	37	14	69256455	69256455	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:69256455delC	ENST00000439696.2	-	2	1113	c.812delG	c.(811-813)gtfs	p.G272fs	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Del_p.G272fs	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	272					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CGGGGAGCCACCCCCGGGCAG	0.642											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	245	---	---	---	---					
EIF2B2	8892	broad.mit.edu	37	14	75474467	75474469	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:75474467_75474469delGAA	ENST00000266126.5	+	7	954_956	c.874_876delGAA	c.(874-876)del	p.E293del	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	293					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		TGTGGCTCCTGAAGAAGTCCTGC	0.414													14	51	---	---	---	---					
CLMN	79789	broad.mit.edu	37	14	95662949	95662949	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:95662949delT	ENST00000298912.4	-	10	2707	c.2594delA	c.(2593-2595)agfs	p.K865fs		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	865						integral to membrane	actin binding	p.K865fs*10(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CCTTTTTTCCTTTTTTTTACT	0.408													17	30	---	---	---	---					
WARS	7453	broad.mit.edu	37	14	100803477	100803478	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:100803477_100803478insC	ENST00000355338.2	-	10	1793_1794	c.1175_1176insG	c.(1174-1176)gaafs	p.E392fs	WARS_ENST00000557135.1_Frame_Shift_Ins_p.E392fs|WARS_ENST00000392882.2_Frame_Shift_Ins_p.E392fs|WARS_ENST00000344102.5_Frame_Shift_Ins_p.E351fs|WARS_ENST00000556645.1_Frame_Shift_Ins_p.E351fs|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000358655.4_Frame_Shift_Ins_p.E351fs	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	392					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	p.G392V(1)		breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CATCACAGTTGCCCCCAAACTG	0.559													7	374	---	---	---	---					
IGHG1	0	broad.mit.edu	37	14	106207939	106207941	+	RNA	DEL	GAA	GAA	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:106207939_106207941delGAA	ENST00000390548.2	-	0	861_863																											TGCTGTAGAGGAAGAAGGAGCCG	0.586													9	229	---	---	---	---					
RP11-69H14.6	0	broad.mit.edu	37	15	22332413	22332413	+	RNA	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:22332413delA	ENST00000558896.1	+	0	220																											TGGCTTGATGAAAAAAAACAA	0.323													10	71	---	---	---	---					
HERC2P2	0	broad.mit.edu	37	15	23331163	23331164	+	RNA	DEL	AA	AA	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:23331163_23331164delAA	ENST00000560464.1	-	0	908																											AATAAATACTAAAAAAAAAAAA	0.366													5	4	---	---	---	---					
HERC2P9	0	broad.mit.edu	37	15	28927410	28927411	+	RNA	INS	-	-	AGGGA			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:28927410_28927411insAGGGA	ENST00000528584.1	+	0	1811					NR_036443.1																						GGTTTAAAAATagggaagggaa	0.460													4	6	---	---	---	---					
RYR3	6263	broad.mit.edu	37	15	34080521	34080523	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:34080521_34080523delAGG	ENST00000389232.4	+	67	9762_9764	c.9692_9694delAGG	c.(9691-9696)cag>c	p.QE3231del	RYR3_ENST00000415757.3_In_Frame_Del_p.QE3231del	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3231					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)		AAGACGGTGCAGGAGGAGGAGCA	0.557													9	185	---	---	---	---					
SRP14	6727	broad.mit.edu	37	15	40330494	40330496	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:40330494_40330496delTCT	ENST00000267884.6	-	3	268_270	c.197_199delAGA	c.(196-201)atc>a	p.KI66del	SRP14_ENST00000560773.1_5'UTR|SRP14_ENST00000558720.1_5'UTR|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000559081.1_In_Frame_Del_p.KI66del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	66					negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ACAGTGCTGATCTTCTTCTTCCC	0.453													15	61	---	---	---	---					
TP53BP1	7158	broad.mit.edu	37	15	43714237	43714237	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:43714237delC	ENST00000263801.3	-	19	4153	c.3901delG	c.(3901-3903)atfs	p.D1301fs	TP53BP1_ENST00000382039.3_Frame_Shift_Del_p.D1306fs|TP53BP1_ENST00000382044.4_Frame_Shift_Del_p.D1306fs|TP53BP1_ENST00000450115.2_Frame_Shift_Del_p.D1306fs	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1301					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GAGCTGATATCCCCCAGGTCA	0.527								Other conserved DNA damage response genes					7	127	---	---	---	---					
TP53BP1	7158	broad.mit.edu	37	15	43733757	43733757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:43733757delT	ENST00000263801.3	-	15	3302	c.3050delA	c.(3049-3051)atfs	p.N1017fs	TP53BP1_ENST00000382039.3_Frame_Shift_Del_p.N1022fs|TP53BP1_ENST00000382044.4_Frame_Shift_Del_p.N1022fs|TP53BP1_ENST00000450115.2_Frame_Shift_Del_p.N1022fs	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1017					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		AGTAGATCCATTTTTTCTTTC	0.393								Other conserved DNA damage response genes					33	93	---	---	---	---					
CEP152	22995	broad.mit.edu	37	15	49036443	49036443	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:49036443delT	ENST00000380950.2	-	24	4016	c.3829delA	c.(3829-3831)ttfs	p.I1277fs	CEP152_ENST00000325747.5_Frame_Shift_Del_p.I1184fs|CEP152_ENST00000399334.3_Frame_Shift_Del_p.I1221fs	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1221					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTACATTTAATTTTTTTTACA	0.393													10	44	---	---	---	---					
C2CD4A	145741	broad.mit.edu	37	15	62360188	62360188	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:62360188delC	ENST00000355522.5	+	2	517	c.376delC	c.(376-378)ccfs	p.P126fs		NM_207322.2	NP_997205.2	Q8NCU7	C2C4A_HUMAN	C2 calcium-dependent domain containing 4A	126						nucleus											cgggggcccgcccgcgccccg	0.811													2	4	---	---	---	---					
ZNF609	23060	broad.mit.edu	37	15	64966285	64966285	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:64966285delG	ENST00000326648.3	+	4	1360	c.1232delG	c.(1231-1233)cgfs	p.R411fs	ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	411						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAGGCCGTCGGGGCAGCCAG	0.547													35	149	---	---	---	---					
RP11-1006G14.2	0	broad.mit.edu	37	15	72901065	72901065	+	RNA	DEL	C	C	-	rs142793856	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:72901065delC	ENST00000565305.1	-	0	201																											ATCTCTGCCTCCCCCTGGTAA	0.532													12	34	---	---	---	---					
EFTUD1	79631	broad.mit.edu	37	15	82523237	82523238	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:82523237_82523238insC	ENST00000268206.7	-	8	974_975	c.806_807insG	c.(805-807)ggafs	p.G269fs	EFTUD1_ENST00000359445.3_Frame_Shift_Ins_p.G218fs|EFTUD1_ENST00000561331.1_5'UTR	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	269					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TATAGTAATCTCCCCACAAGGT	0.361													35	62	---	---	---	---					
KIF7	374654	broad.mit.edu	37	15	90190209	90190209	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:90190209delC	ENST00000394412.3	-	7	1716	c.1640delG	c.(1639-1641)gcfs	p.G547fs		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	547					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GAGCCGCGGGCCCCCCCAGCC	0.692											OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	32	---	---	---	---					
DNM1P47	0	broad.mit.edu	37	15	102306788	102306790	+	RNA	DEL	GTA	GTA	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:102306788_102306790delGTA	ENST00000561463.1	+	0	13180																											TTAGTCTGTTGTAGTGGTGAGCT	0.507													2	4	---	---	---	---					
MAPK8IP3	23162	broad.mit.edu	37	16	1817703	1817703	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:1817703delG	ENST00000250894.4	+	27	3530	c.3373delG	c.(3373-3375)tgfs	p.V1125fs	MAPK8IP3_ENST00000356010.5_Frame_Shift_Del_p.V1119fs	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1125					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TCTACAGGACGTGGACATTGA	0.647													13	44	---	---	---	---					
SRRM2	23524	broad.mit.edu	37	16	2819185	2819187	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:2819185_2819187delTCC	ENST00000301740.8	+	12	8470_8472	c.7921_7923delTCC	c.(7921-7923)del	p.S2648del	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2648	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ctcctcatcttcctcctcctcgt	0.591													27	90	---	---	---	---					
CLDN9	9080	broad.mit.edu	37	16	3063895	3063895	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:3063895delG	ENST00000445369.2	+	1	1439	c.532delG	c.(532-534)ggfs	p.G179fs		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	179					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						TATGCTGGGCGGGGGGCTCCT	0.721													29	74	---	---	---	---					
CACNG3	10368	broad.mit.edu	37	16	24372743	24372744	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:24372743_24372744insA	ENST00000005284.3	+	4	1709_1710	c.507_508insA	c.(505-510)tcaaaafs	p.SK169fs		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	169					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		AGCGTGACTCCAAAAAAAGTTA	0.441													10	196	---	---	---	---					
ZNF48	197407	broad.mit.edu	37	16	30409310	30409310	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:30409310delC	ENST00000320159.2	+	2	1115	c.739delC	c.(739-741)ccfs	p.P248fs		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GGGGGAGCAGCCCCCCCGACC	0.637													29	57	---	---	---	---					
CDH8	1006	broad.mit.edu	37	16	61935343	61935344	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:61935343_61935344insT	ENST00000577390.1	-	3	1240_1241	c.286_287insA	c.(286-288)caafs	p.Q96fs	CDH8_ENST00000577730.1_Frame_Shift_Ins_p.Q96fs|CDH8_ENST00000584337.1_Frame_Shift_Ins_p.Q96fs|CDH8_ENST00000299345.6_Frame_Shift_Ins_p.Q96fs	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	96	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GATATACTTGATTTTTTTGCTC	0.376													17	65	---	---	---	---					
CDH1	999	broad.mit.edu	37	16	68856088	68856088	+	Frame_Shift_Del	DEL	C	C	-	rs33969373	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:68856088delC	ENST00000261769.5	+	12	2087	c.1896delC	c.(1894-1896)cafs	p.H632fs	CDH1_ENST00000422392.2_Frame_Shift_Del_p.H571fs|CDH1_ENST00000562836.1_3'UTR|RP11-354M1.2_ENST00000563916.1_RNA	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	632	Cadherin 5.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AACTAACACACGGGGCGAGTG	0.483			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				7	82	---	---	---	---					
TLDC1	57707	broad.mit.edu	37	16	84514303	84514303	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:84514303delC	ENST00000343629.6	-	7	1271	c.1089delG	c.(1087-1089)ggfs	p.G363fs	TLDC1_ENST00000535580.1_Frame_Shift_Del_p.G336fs	NM_020947.3	NP_065998.3			TBC/LysM-associated domain containing 1																		AATTGTGCTGCCCCCCCATAC	0.547													22	27	---	---	---	---					
ZFPM1	161882	broad.mit.edu	37	16	88555465	88555465	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:88555465delC	ENST00000319555.3	+	3	494	c.172delC	c.(172-174)ccfs	p.P59fs	ZFPM1_ENST00000569086.1_3'UTR	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	59					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		ACCGCTGCCGCCCCCCACATC	0.652													15	41	---	---	---	---					
WDR81	124997	broad.mit.edu	37	17	1637102	1637102	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:1637102delG	ENST00000409644.1	+	7	4771	c.4771delG	c.(4771-4773)ggfs	p.G1592fs	WDR81_ENST00000437219.2_Frame_Shift_Del_p.G389fs|WDR81_ENST00000446363.1_Frame_Shift_Del_p.G231fs|WDR81_ENST00000545662.1_Frame_Shift_Del_p.G223fs|WDR81_ENST00000419248.1_Frame_Shift_Del_p.G365fs|WDR81_ENST00000309182.5_Frame_Shift_Del_p.G541fs|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	365										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGTGGGTGGCGGGGGCCTGGG	0.682													29	83	---	---	---	---					
FLII	2314	broad.mit.edu	37	17	18150040	18150042	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:18150040_18150042delCTC	ENST00000327031.4	-	23	3142_3144	c.2917_2919delGAG	c.(2917-2919)del	p.E973del	FLII_ENST00000579294.1_In_Frame_Del_p.E962del|FLII_ENST00000578558.1_Intron|FLII_ENST00000379450.4_In_Frame_Del_p.E887del|FLII_ENST00000545457.2_In_Frame_Del_p.E918del	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	973	Glu-rich.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					ctggctgcttctcctctgcctca	0.571													8	17	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27959375	27959375	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:27959375delG	ENST00000269033.3	-	15	2907	c.2756delC	c.(2755-2757)cafs	p.P919fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Del_p.P946fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	919					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGAATGTTCTGGGGGGGCTTC	0.483													14	391	---	---	---	---					
ATAD5	79915	broad.mit.edu	37	17	29204438	29204438	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:29204438delA	ENST00000321990.4	+	16	4167	c.3789delA	c.(3787-3789)atfs	p.I1263fs		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1263					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ATGCAGGAATAAAAAATTCTT	0.299													14	34	---	---	---	---					
RAMP2	10266	broad.mit.edu	37	17	40914372	40914372	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:40914372delG	ENST00000587142.1	+	3	182	c.178delG	c.(178-180)ggfs	p.G61fs	RAMP2_ENST00000588576.1_Intron|RAMP2_ENST00000589683.1_Splice_Site|RAMP2_ENST00000253796.5_Splice_Site			O60895	RAMP2_HUMAN	receptor (G protein-coupled) activity modifying protein 2	56					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	coated pit|integral to plasma membrane|lysosome	protein transporter activity			endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	TGTACCTACAGGGGGGACGGT	0.507													32	152	---	---	---	---					
HDAC5	10014	broad.mit.edu	37	17	42170121	42170121	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:42170121delG	ENST00000225983.6	-	7	1021	c.698delC	c.(697-699)ctfs	p.P233fs	HDAC5_ENST00000586802.1_Frame_Shift_Del_p.P232fs|HDAC5_ENST00000393622.2_Frame_Shift_Del_p.P232fs|HDAC5_ENST00000336057.5_Frame_Shift_Del_p.P232fs			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	232					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		AGGCGTCCCAGGGGGGCCGCT	0.647													15	46	---	---	---	---					
CACNA1G	8913	broad.mit.edu	37	17	48668820	48668820	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:48668820delG	ENST00000352832.5	+	11	2850	c.2478delG	c.(2476-2478)cafs	p.Q826fs	CACNA1G_ENST00000515765.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000507896.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000515165.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000359106.5_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000358244.5_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000507609.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000354983.4_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000514717.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000514181.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000514079.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000513964.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000513689.2_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000505165.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000510115.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000507510.2_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000442258.2_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000512389.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000503485.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000502264.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000515411.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000510366.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000416767.4_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000429973.2_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000360761.4_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000507336.1_Frame_Shift_Del_p.Q826fs	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	826					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGGCCAGCAGGGGGGCGGCC	0.682													6	9	---	---	---	---					
TMEM100	55273	broad.mit.edu	37	17	53798255	53798255	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:53798255delG	ENST00000575734.1	-	4	985	c.177delC	c.(175-177)ccfs	p.P59fs	TMEM100_ENST00000424486.2_Frame_Shift_Del_p.P59fs	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN	transmembrane protein 100	59						integral to membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						CCACAGCAAAGGGGATGATGC	0.537													32	117	---	---	---	---					
BZRAP1	9256	broad.mit.edu	37	17	56386548	56386548	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:56386548delG	ENST00000355701.3	-	22	4955	c.4085delC	c.(4084-4086)ctfs	p.P1362fs	BZRAP1_ENST00000343736.4_Frame_Shift_Del_p.P1362fs|BZRAP1_ENST00000268893.6_Frame_Shift_Del_p.P1302fs	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1362						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGCAATGCAGGTTCAGGCGG	0.627													32	70	---	---	---	---					
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:56435161delC	ENST00000584437.1	-	8	3931	c.1976delG	c.(1975-1977)gtfs	p.G659fs	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000500597.2_Frame_Shift_Del_p.G618fs|RNF43_ENST00000577625.1_Frame_Shift_Del_p.G532fs|RNF43_ENST00000581868.1_Frame_Shift_Del_p.G532fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.G618fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.G659fs|RNF43_ENST00000577716.1_Frame_Shift_Del_p.G659fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCGGAGGGACCCCCCCGCCT	0.602													65	105	---	---	---	---					
PITPNC1	26207	broad.mit.edu	37	17	65688788	65688788	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:65688788delC	ENST00000335257.6	+	9	1130	c.783delC	c.(781-783)atfs	p.I261fs	PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000580974.1_3'UTR|PITPNC1_ENST00000581322.1_Frame_Shift_Del_p.I261fs			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	261					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			TCTCCAGCATCCCCCTGCTGC	0.532													49	136	---	---	---	---					
LRRC37A16P	0	broad.mit.edu	37	17	66131778	66131778	+	RNA	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:66131778delC	ENST00000590019.1	-	0	298																											TCCGCCCAGACCCCCCTGCCC	0.692													13	24	---	---	---	---					
NAT9	26151	broad.mit.edu	37	17	72767902	72767903	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:72767902_72767903delTT	ENST00000357814.3	-	7	657_658	c.584_585delAA	c.(583-585)gfs	p.E196fs	NAT9_ENST00000581136.1_Frame_Shift_Del_p.E191fs|NAT9_ENST00000580632.1_Frame_Shift_Del_p.E196fs|NAT9_ENST00000580301.1_Frame_Shift_Del_p.E195fs|NAT9_ENST00000582870.1_Frame_Shift_Del_p.E200fs|NAT9_ENST00000582524.1_3'UTR|NAT9_ENST00000578822.1_Frame_Shift_Del_p.E201fs|NAT9_ENST00000583757.1_3'UTR	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	196						protein complex	N-acetyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						AAGGCTTCTCTTCCACGTGGCT	0.574													19	36	---	---	---	---					
CBX4	8535	broad.mit.edu	37	17	77808481	77808483	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:77808481_77808483delCTT	ENST00000269397.4	-	5	1135_1137	c.958_960delAAG	c.(958-960)del	p.K320del		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	320	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCGCCTCCACCTTCTTCTCCTCT	0.690											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	57	---	---	---	---					
CBX4	8535	broad.mit.edu	37	17	77808751	77808751	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:77808751delG	ENST00000269397.4	-	5	867	c.690delC	c.(688-690)ccfs	p.P230fs		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	230	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCATTCCGTTGGGGGGGCCCT	0.642											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	103	---	---	---	---					
SECTM1	6398	broad.mit.edu	37	17	80285100	80285101	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:80285100_80285101insG	ENST00000269389.3	-	2	366_367	c.16_17insC	c.(16-18)ggcfs	p.G6fs	SECTM1_ENST00000580437.1_Frame_Shift_Ins_p.G6fs	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	secreted and transmembrane 1	6					immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular space|Golgi apparatus|integral to membrane|plasma membrane	cytokine activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			AGGGAATGCCAGGGGGCAGGTC	0.624													7	14	---	---	---	---					
LIPG	9388	broad.mit.edu	37	18	47113130	47113130	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:47113130delC	ENST00000261292.4	+	9	1669	c.1391delC	c.(1390-1392)aafs	p.T464fs	LIPG_ENST00000427224.2_Frame_Shift_Del_p.T390fs	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	464	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						ACATTTTGTACAGAAGACCCT	0.507													21	41	---	---	---	---					
LMAN1	3998	broad.mit.edu	37	18	57013285	57013285	+	Splice_Site	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:57013285delT	ENST00000251047.5	-	8	1540		c.e8-2		LMAN1_ENST00000587940.1_Splice_Site	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1						blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TGGTGTGGGCTTTTTTTTGGA	0.294													27	89	---	---	---	---					
ZNF407	55628	broad.mit.edu	37	18	72345748	72345748	+	Frame_Shift_Del	DEL	G	G	-	rs144140002		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:72345748delG	ENST00000299687.5	+	1	2773	c.2773delG	c.(2773-2775)ggfs	p.G926fs	ZNF407_ENST00000309902.6_Frame_Shift_Del_p.G926fs|ZNF407_ENST00000582337.1_Frame_Shift_Del_p.G926fs|ZNF407_ENST00000577538.1_Frame_Shift_Del_p.G926fs	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	926					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TGGCCCTGAAGGGGGTAGCCT	0.463													8	105	---	---	---	---					
GIPC3	126326	broad.mit.edu	37	19	3589527	3589527	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:3589527delG	ENST00000322315.5	+	4	724	c.679delG	c.(679-681)ggfs	p.G228fs		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	228										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTCGTTCTGGGGGGGCTGC	0.607													19	59	---	---	---	---					
MATK	4145	broad.mit.edu	37	19	3784848	3784848	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:3784848delG	ENST00000310132.6	-	3	505	c.107delC	c.(106-108)ctfs	p.P37fs	MATK_ENST00000395040.2_5'UTR|MATK_ENST00000395045.2_Frame_Shift_Del_p.P38fs|MATK_ENST00000585778.1_Frame_Shift_Del_p.P37fs	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	37					cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGACGGGAGGGGGGTGCCA	0.657													2	4	---	---	---	---					
MAP2K7	5609	broad.mit.edu	37	19	7976149	7976149	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:7976149delC	ENST00000545011.1	+	8	1061	c.996delC	c.(994-996)gafs	p.D332fs	MAP2K7_ENST00000397983.3_Frame_Shift_Del_p.D306fs|MAP2K7_ENST00000397979.3_Frame_Shift_Del_p.D290fs|MAP2K7_ENST00000397981.3_Frame_Shift_Del_p.D290fs			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	290	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D290D(1)		breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	AGCGCATTGACCCCCCAGACC	0.706													12	75	---	---	---	---					
OLFM2	93145	broad.mit.edu	37	19	9964954	9964954	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:9964954delG	ENST00000264833.4	-	6	1458	c.1273delC	c.(1273-1275)ggfs	p.R425fs	OLFM2_ENST00000590841.1_Frame_Shift_Del_p.R347fs	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	425	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GCGCGCTCCCGGGGGTTGTAA	0.557													30	100	---	---	---	---					
CC2D1A	54862	broad.mit.edu	37	19	14029735	14029736	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:14029735_14029736insC	ENST00000318003.7	+	10	1270_1271	c.1029_1030insC	c.(1027-1032)ccccccfs	p.PP343fs	CC2D1A_ENST00000589606.1_Frame_Shift_Ins_p.PP343fs	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	343	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AGGTGCCCCCACCCCCGAGGAC	0.668													10	30	---	---	---	---					
PKN1	5585	broad.mit.edu	37	19	14562728	14562728	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:14562728delC	ENST00000242783.6	+	7	1223	c.1058delC	c.(1057-1059)acfs	p.T353fs	PKN1_ENST00000342216.4_Frame_Shift_Del_p.T359fs	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	353	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GGACCTGGGACCCCAGACAGC	0.682													14	33	---	---	---	---					
CRTC1	23373	broad.mit.edu	37	19	18888096	18888096	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:18888096delC	ENST00000338797.6	+	15	1882	c.1857delC	c.(1855-1857)gafs	p.D619fs	CRTC1_ENST00000594658.1_Frame_Shift_Del_p.D562fs|CRTC1_ENST00000601916.1_Frame_Shift_Del_p.D361fs|CRTC1_ENST00000321949.8_Frame_Shift_Del_p.D603fs	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	603					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TCAAGATCGACCCCCTGACCC	0.642													17	567	---	---	---	---					
ZNF708	7562	broad.mit.edu	37	19	21476363	21476363	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:21476363delT	ENST00000356929.3	-	4	1602	c.1405delA	c.(1405-1407)ttfs	p.I469fs		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						CCAGTATGAATTTTTTTATGA	0.313													13	32	---	---	---	---					
ZNF567	163081	broad.mit.edu	37	19	37210375	37210375	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:37210375delA	ENST00000585696.1	+	3	1886	c.656delA	c.(655-657)gafs	p.E219fs	ZNF567_ENST00000588311.1_Frame_Shift_Del_p.E219fs|ZNF567_ENST00000392163.2_Frame_Shift_Del_p.E219fs|ZNF567_ENST00000360729.4_Frame_Shift_Del_p.E219fs|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000536254.2_Frame_Shift_Del_p.E250fs			Q8N184	ZN567_HUMAN	zinc finger protein 567	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ACCAATATTGAAAAAAAACAT	0.348													9	26	---	---	---	---					
DYRK1B	9149	broad.mit.edu	37	19	40316563	40316563	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:40316563delG	ENST00000593685.1	-	11	2150	c.1682delC	c.(1681-1683)cgfs	p.P561fs	DYRK1B_ENST00000348817.3_Frame_Shift_Del_p.P533fs|DYRK1B_ENST00000323039.5_Frame_Shift_Del_p.P561fs|DYRK1B_ENST00000430012.2_Frame_Shift_Del_p.P521fs|DYRK1B_ENST00000597639.1_Frame_Shift_Del_p.P533fs			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	561	Poly-Pro.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CATCAGCTCCGGGGGTGGTGG	0.711													10	135	---	---	---	---					
ERF	2077	broad.mit.edu	37	19	42752695	42752695	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:42752695delC	ENST00000222329.4	-	4	1726	c.1569delG	c.(1567-1569)ggfs	p.G523fs	ERF_ENST00000440177.2_Frame_Shift_Del_p.G448fs|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	523					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GGGTGAGGGGCCCCCCAGCCT	0.697													35	50	---	---	---	---					
CIC	23152	broad.mit.edu	37	19	42796883	42796883	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:42796883delC	ENST00000572681.2	+	15	6133	c.6065delC	c.(6064-6066)gcfs	p.A2022fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.A1113fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.A1114fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.S1117fs*34(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCATCCCAGGCCCCCCCAAGC	0.682			"""Mis, F, S"""		oligodendroglioma								10	124	---	---	---	---					
FBXO46	23403	broad.mit.edu	37	19	46215483	46215483	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:46215483delG	ENST00000317683.3	-	2	1404	c.1271delC	c.(1270-1272)cgfs	p.P424fs		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	424							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGAGTCGGCCGGGGGTGGCTC	0.726													21	35	---	---	---	---					
SIX5	147912	broad.mit.edu	37	19	46269107	46269107	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:46269107delG	ENST00000317578.6	-	3	2253	c.1872delC	c.(1870-1872)ccfs	p.P624fs	AC074212.5_ENST00000559756.1_RNA|SIX5_ENST00000560168.1_3'UTR	NM_175875.4	NP_787071.2	Q8N196	SIX5_HUMAN	SIX homeobox 5	624						cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		TGGCAGCGGCGGGGGGTGGCT	0.711													8	31	---	---	---	---					
DMWD	1762	broad.mit.edu	37	19	46289388	46289388	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:46289388delG	ENST00000270223.6	-	3	1411	c.1366delC	c.(1366-1368)tgfs	p.L456fs	DMWD_ENST00000377735.3_Frame_Shift_Del_p.L456fs	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	456					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GTGCGGGCCAGGGGGGGGTGC	0.711													6	13	---	---	---	---					
MYPOP	339344	broad.mit.edu	37	19	46404622	46404622	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:46404622delG	ENST00000322217.5	-	2	496	c.410delC	c.(409-411)ctfs	p.P137fs		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	137	Pro-rich.					nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						GGGGGCCGCAGGGGGCTCCTC	0.706													2	4	---	---	---	---					
LMTK3	114783	broad.mit.edu	37	19	49000732	49000732	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:49000732delG	ENST00000600059.1	-	11	3821	c.3594delC	c.(3592-3594)ccfs	p.P1198fs	LMTK3_ENST00000270238.3_Frame_Shift_Del_p.P1227fs					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TCTCGGGCTTGGGGGGGTCCC	0.711													18	59	---	---	---	---					
KLK8	11202	broad.mit.edu	37	19	51501092	51501093	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:51501092_51501093insG	ENST00000600767.1	-	6	1030_1031	c.541_542insC	c.(541-543)gaafs	p.E181fs	CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000598195.1_5'UTR|KLK8_ENST00000391806.2_Frame_Shift_Ins_p.E226fs|KLK8_ENST00000347619.4_Frame_Shift_Ins_p.E40fs|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000291726.7_Frame_Shift_Ins_p.E181fs|KLK8_ENST00000320838.5_Intron			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	181	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		ACACTTCTTCTGGGGAAAGATT	0.520													33	106	---	---	---	---					
SUV420H2	84787	broad.mit.edu	37	19	55853590	55853590	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:55853590delC	ENST00000255613.3	+	3	366	c.118delC	c.(118-120)ccfs	p.P41fs	AC020922.1_ENST00000539076.1_Intron|SUV420H2_ENST00000402499.4_Intron	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	41					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CAGCCCTGTGCCCCCCCTGCG	0.716													9	22	---	---	---	---					
EPN1	29924	broad.mit.edu	37	19	56206666	56206666	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:56206666delC	ENST00000411543.2	+	11	2480	c.1933delC	c.(1933-1935)ccfs	p.P646fs	EPN1_ENST00000270460.6_Frame_Shift_Del_p.P560fs|EPN1_ENST00000085079.7_Frame_Shift_Del_p.P534fs	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	560					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CCCTGGCCTGCCCCCCATGAT	0.697													8	9	---	---	---	---					
NLRP8	126205	broad.mit.edu	37	19	56466960	56466961	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:56466960_56466961insT	ENST00000291971.3	+	3	1607_1608	c.1536_1537insT	c.(1534-1539)gattttfs	p.DF512fs	NLRP8_ENST00000590542.1_Frame_Shift_Ins_p.DF512fs	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	512	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTTTTCAGGAATTTTTTGCGGC	0.465													68	217	---	---	---	---					
ZNF787	126208	broad.mit.edu	37	19	56599606	56599606	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:56599606delC	ENST00000270459.3	-	3	1053	c.935delG	c.(934-936)gcfs	p.G312fs		NM_001002836.2	NP_001002836.2	Q6DD87	ZN787_HUMAN	zinc finger protein 787	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CGGCTCCTCGCCCCCCGCCGC	0.761													6	8	---	---	---	---					
ZNF416	55659	broad.mit.edu	37	19	58084579	58084579	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:58084579delA	ENST00000196489.3	-	4	915	c.693delT	c.(691-693)ttfs	p.F231fs		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CTCTAGGGTGAAAAAAAGTGT	0.453													7	212	---	---	---	---					
SIGLEC1	6614	broad.mit.edu	37	20	3677446	3677446	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:3677446delG	ENST00000344754.4	-	10	2469	c.2470delC	c.(2470-2472)tgfs	p.L824fs	SIGLEC1_ENST00000202578.4_Frame_Shift_Del_p.L824fs	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	824	Ig-like C2-type 8.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGCAAGGCCAGGGGGCGGCTG	0.637													24	56	---	---	---	---					
KIAA1755	85449	broad.mit.edu	37	20	36841555	36841555	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:36841555delG	ENST00000279024.4	-	14	3763	c.3492delC	c.(3490-3492)ccfs	p.P1164fs		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1164										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)				GGCTCTGCCTGGGGGGCTGCT	0.642													24	70	---	---	---	---					
AP001255.2	0	broad.mit.edu	37	21	24474482	24474482	+	RNA	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:24474482delA	ENST00000421604.1	+	0	297																											actccatctcaaaaaaaaaat	0.403													2	4	---	---	---	---					
ITSN1	6453	broad.mit.edu	37	21	35122567	35122567	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:35122567delC	ENST00000381318.3	+	6	754	c.466delC	c.(466-468)ccfs	p.P157fs	ITSN1_ENST00000381285.4_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000399349.1_Frame_Shift_Del_p.P157fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399355.2_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000437442.2_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000399326.3_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000399353.1_Frame_Shift_Del_p.P120fs|ITSN1_ENST00000399352.1_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000379960.5_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000399338.4_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000381291.4_Frame_Shift_Del_p.P157fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	157					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGCAGCTGTGCCCCCCCTGGC	0.522													14	79	---	---	---	---					
BRWD1	54014	broad.mit.edu	37	21	40571323	40571324	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:40571323_40571324insT	ENST00000342449.3	-	40	5096_5097	c.5018_5019insA	c.(5017-5019)attfs	p.I1673fs	BRWD1_ENST00000333229.2_Frame_Shift_Ins_p.I1673fs|BRWD1_ENST00000380800.3_Frame_Shift_Ins_p.I1673fs	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1673					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TATGTAATAACTTTTTTCTAGC	0.381													7	72	---	---	---	---					
UMODL1	89766	broad.mit.edu	37	21	43504322	43504322	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:43504322delG	ENST00000400427.1	+	3	628	c.232delG	c.(232-234)ggfs	p.G79fs	UMODL1_ENST00000408989.2_Frame_Shift_Del_p.G151fs|UMODL1_ENST00000408910.2_Frame_Shift_Del_p.G151fs|UMODL1_ENST00000400424.1_Frame_Shift_Del_p.G79fs	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	151	EMI.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCCCTGGTCAGGGGGGCGCTA	0.652													32	123	---	---	---	---					
KRTAP10-10	353333	broad.mit.edu	37	21	46057597	46057597	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:46057597delC	ENST00000380095.1	+	1	325	c.263delC	c.(262-264)tcfs	p.S88fs	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	88	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TGCACCTCCTCCCcctgccag	0.642													8	203	---	---	---	---					
IL17RA	23765	broad.mit.edu	37	22	17590304	17590304	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:17590304delC	ENST00000319363.6	+	13	2328	c.2195delC	c.(2194-2196)acfs	p.T732fs		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	732					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GGCAGCAGCACCCCCATGGCG	0.682													8	32	---	---	---	---					
MED15	51586	broad.mit.edu	37	22	20936976	20936976	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:20936976delC	ENST00000263205.7	+	10	1420	c.1351delC	c.(1351-1353)ccfs	p.P452fs	MED15_ENST00000425759.2_Frame_Shift_Del_p.P301fs|MED15_ENST00000478831.1_Intron|MED15_ENST00000406969.1_Frame_Shift_Del_p.P386fs|MED15_ENST00000292733.7_Frame_Shift_Del_p.P412fs|MED15_ENST00000541476.1_Frame_Shift_Del_p.P386fs|MED15_ENST00000382974.2_Frame_Shift_Del_p.P341fs|MED15_ENST00000542773.1_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	452	Poly-Pro.|Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GATGCCCCCTCCCCCCCAGCC	0.726													16	38	---	---	---	---					
TRIOBP	11078	broad.mit.edu	37	22	38120299	38120299	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:38120299delG	ENST00000406386.3	+	7	1991	c.1736delG	c.(1735-1737)ttfs	p.C579fs	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	579					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGAACATCCTGTGCCCAGCGG	0.592													7	156	---	---	---	---					
ZMYM3	9203	broad.mit.edu	37	X	70472963	70472963	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:70472963delG	ENST00000373998.1	-	2	840	c.143delC	c.(142-144)ctfs	p.P48fs	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373982.1_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000373978.1_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000353904.2_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000373981.1_Frame_Shift_Del_p.P48fs	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	48					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AGAAGGGCCAGGGGGGGCCCA	0.607											OREG0019858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	6	---	---	---	---					
TAF7L	54457	broad.mit.edu	37	X	100538467	100538467	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:100538467delT	ENST00000372907.3	-	4	519	c.508delA	c.(508-510)ccfs	p.T170fs	TAF7L_ENST00000356784.1_Frame_Shift_Del_p.T84fs|TAF7L_ENST00000324762.6_Frame_Shift_Del_p.T84fs|TAF7L_ENST00000372905.2_Frame_Shift_Del_p.T84fs	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	170					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TTATAAAAGGTTTTTTTATCA	0.393													7	137	---	---	---	---					
ZNF280C	55609	broad.mit.edu	37	X	129370543	129370543	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:129370543delT	ENST00000370978.4	-	7	717	c.564delA	c.(562-564)aafs	p.K188fs		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	188	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TGGTCTTTGGTTTTTTTGGAG	0.358													9	51	---	---	---	---