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
FASTK	10922	broad.mit.edu	37	7	150776054	150776054	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:150776054C>T	ENST00000297532.6	-	3	637	c.560G>A	c.(559-561)cGc>cAc	p.R187H	FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000353841.2_Missense_Mutation_p.R46H|FASTK_ENST00000540185.1_Intron|FASTK_ENST00000482571.1_Missense_Mutation_p.R187H	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	187					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		CGGAGGGAGGCGGAGCCTTCG	0.622000													21	61					0	0	1	0	0
BTN2A3P	0	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													6	437					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74288692	74288692	+	Missense_Mutation	SNP	C	C	A	rs140703547	by1000genomes	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:74288692C>A	ENST00000262765.5	-	4	1797	c.1618G>T	c.(1618-1620)Gat>Tat	p.D540Y		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	540	Gln-rich.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCATGCTGATCTGCACCAGGT	0.527000													42	343					1.59361e-14	1.71966e-14	1	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274020	39274020	+	Missense_Mutation	SNP	C	C	G	rs80129796	by1000genomes	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	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													4	44					0	0	1	0	0
MAD1L1	8379	broad.mit.edu	37	7	2020096	2020096	+	Silent	SNP	G	G	A	rs113127342	by1000genomes	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:2020096G>A	ENST00000406869.1	-	15	2054	c.1497C>T	c.(1495-1497)gaC>gaT	p.D499D	MAD1L1_ENST00000265854.7_Silent_p.D499D|MAD1L1_ENST00000399654.2_Silent_p.D499D|MAD1L1_ENST00000402746.1_Silent_p.D407D			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	499	Necessary for interaction with NEK2.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		ACCTGAGCGTGTCCGCCTCCT	0.617000													4	115					0	0	1	0	0
TRGV5	0	broad.mit.edu	37	7	38389495	38389495	+	RNA	SNP	C	C	A	rs2012300	by1000genomes	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:38389495C>A	ENST00000390344.2	-	0	128																											CTTAAAACTCCGGCCCCACTC	0.542000													6	123					4.3838e-07	4.60058e-07	1	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(1)		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)			ACTGGACGCAGGcagcagcag	0.657000													13	87					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43888983	43888983	+	Missense_Mutation	SNP	A	A	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:43888983A>G	ENST00000562955.1	+	15	2251	c.2251A>G	c.(2251-2253)Atc>Gtc	p.I751V	SZT2_ENST00000372442.1_5'UTR	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	751						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CAAACTGCTCATCAGGTTGGT	0.602000													22	126					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12957788	12957788	+	Silent	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr8:12957788C>T	ENST00000276297.4	-	9	2467	c.2058G>A	c.(2056-2058)gcG>gcA	p.A686A	DLC1_ENST00000358919.2_Silent_p.A249A|DLC1_ENST00000520226.1_Silent_p.A175A|DLC1_ENST00000512044.2_Silent_p.A283A	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	686					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						GCTTTGAGGGCGCTTTGTGCT	0.557000													72	632					0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	T	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:155887393T>G	ENST00000368320.3	-	11	1362	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P			Q7Z7F0	K0907_HUMAN	KIAA0907	446	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567000													15	235					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873188	55873188	+	Missense_Mutation	SNP	A	A	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:55873188A>G	ENST00000313503.1	+	1	670	c.670A>G	c.(670-672)Acc>Gcc	p.T224A		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CATTCTCTTTACCATCCTGAA	0.388000										HNSCC(53;0.14)			74	712					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414373	20414373	+	Silent	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:20414373G>A	ENST00000380338.4	-	5	757	c.471C>T	c.(469-471)agC>agT	p.S157S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	157	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S157S(5)		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)		tgctgctgctgctactgctgc	0.527000			T	MLL	ALL								7	274					0	0	1	0	0
MAPK10	5602	broad.mit.edu	37	4	86950350	86950350	+	Splice_Site	SNP	C	C	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr4:86950350C>A	ENST00000395169.3	-	13	1858	c.1138_splice	c.e13+1	p.G380_splice	MAPK10_ENST00000395160.3_Splice_Site_p.A273_splice|MAPK10_ENST00000449047.2_Splice_Site_p.G273_splice|MAPK10_ENST00000395166.1_Splice_Site_p.G380_splice|MAPK10_ENST00000395157.3_Splice_Site_p.G273_splice|MAPK10_ENST00000395161.2_Splice_Site_p.A418_splice|MAPK10_ENST00000359221.3_Splice_Site_p.G418_splice|MAPK10_ENST00000361569.2_Splice_Site_p.A418_splice	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	418					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		GAGTGAGTACCTGAAGGAGAA	0.358000													24	347					3.08376e-08	3.27221e-08	1	1	0
ZNF788	388507	broad.mit.edu	37	19	12223527	12223527	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:12223527C>T	ENST00000339302.4	+	3	1802	c.1165C>T	c.(1165-1167)Cgc>Tgc	p.R389C	ZNF788_ENST00000430298.2_3'UTR|ZNF788_ENST00000397759.3_Missense_Mutation_p.R8C|ZNF20_ENST00000600335.1_Intron					zinc finger family member 788											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						TAGAGAAAAACGCTATAAATG	0.388000													4	15					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52139700	52139700	+	Missense_Mutation	SNP	T	T	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:52139700T>G	ENST00000354534.5	+	13	2190	c.2012T>G	c.(2011-2013)gTg>gGg	p.V671G	SCN8A_ENST00000550891.1_Missense_Mutation_p.V671G|SCN8A_ENST00000545061.1_Missense_Mutation_p.V671G	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	671					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)	ACAACTGAGGTGGAAATTAAG	0.388000													20	192					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145147456	145147456	+	Silent	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:145147456C>T	ENST00000558170.2	-	10	4391	c.3207G>A	c.(3205-3207)tcG>tcA	p.S1069S	ZEB2_ENST00000409487.3_Silent_p.S1069S|ZEB2_ENST00000539609.3_Silent_p.S1045S|ZEB2_ENST00000303660.4_Silent_p.S1069S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1069						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GCTGCGAGTACGAGCCCGAGT	0.577000													55	432					0	0	1	0	0
CCBL1	883	broad.mit.edu	37	9	131597903	131597903	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:131597903C>T	ENST00000436267.2	-	12	1330	c.1181G>A	c.(1180-1182)cGc>cAc	p.R394H	CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Missense_Mutation_p.R250H|CCBL1_ENST00000302586.3_Missense_Mutation_p.R300H			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	300					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	GCTGGGTTGGCGGAAGAGCAG	0.607000													6	282					0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169637339	169637339	+	Missense_Mutation	SNP	T	T	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr3:169637339T>C	ENST00000428432.2	+	3	442	c.53T>C	c.(52-54)aTc>aCc	p.I18T	SAMD7_ENST00000335556.3_Missense_Mutation_p.I18T	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	18										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			ATCCCACTGATCCCCTCACCA	0.423000													63	614					0	0	1	0	0
GPR114	221188	broad.mit.edu	37	16	57601845	57601845	+	Missense_Mutation	SNP	T	T	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr16:57601845T>C	ENST00000340339.4	+	9	1422	c.899T>C	c.(898-900)cTg>cCg	p.L300P	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.L300P	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	300					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						GCCTTCCTGCTGAGCCCCGCA	0.617000													22	219					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	by1000genomes	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr21:11098863A>G	ENST00000470054.1	-	0	62									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627000													12	61					0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7527146	7527146	+	Missense_Mutation	SNP	G	G	A	rs146371166		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:7527146G>A	ENST00000359920.6	+	11	2250	c.1997G>A	c.(1996-1998)cGa>cAa	p.R666Q	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.R508Q|CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.E624K	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	666					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CCCCAGCCCCGAGGCCTATTC	0.602000													58	483					0	0	1	0	0
DCUN1D5	84259	broad.mit.edu	37	11	102933112	102933112	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:102933112C>T	ENST00000260247.5	-	8	1032	c.690G>A	c.(688-690)tgG>tgA	p.W230*	DCUN1D5_ENST00000531543.1_Nonsense_Mutation_p.W145*	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 5	230	DCUN1.									NS(1)|central_nervous_system(1)|endometrium(2)	4		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		GGACTTTTTGCCACTCAACAA	0.368000													6	524					0	0	1	0	0
RANBP9	10048	broad.mit.edu	37	6	13644862	13644862	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:13644862G>A	ENST00000011619.3	-	6	1085	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	RANBP9_ENST00000539980.1_Missense_Mutation_p.R114W	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	343					axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			CTCCACTCCCGCATATAGTCT	0.438000													84	590					0	0	1	0	0
CEACAM8	1088	broad.mit.edu	37	19	43098946	43098946	+	Missense_Mutation	SNP	C	C	T	rs143763173		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:43098946C>T	ENST00000244336.5	-	1	136	c.35G>A	c.(34-36)cGc>cAc	p.R12H	CEACAM8_ENST00000599005.1_Missense_Mutation_p.R12H|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	12					immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CCAGGGGATGCGCCATCTGCA	0.612000													8	664					0	0	1	0	0
TUBBP5	0	broad.mit.edu	37	9	141070069	141070069	+	RNA	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:141070069C>T	ENST00000503395.1	+	0	1149																											GGTACGTGCCCCGCGCTGTGC	0.711000													5	320					0	0	1	0	0
MEF2A	0	broad.mit.edu	37	15	100211761	100211761	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr15:100211761C>T	ENST00000354410.5	+	5	924	c.295C>T	c.(295-297)Cca>Tca	p.P99S	MEF2A_ENST00000453228.2_Intron|MEF2A_ENST00000558812.1_Intron|MEF2A_ENST00000557785.1_Intron|MEF2A_ENST00000557942.1_Intron|MEF2A_ENST00000449277.2_Intron|MEF2A_ENST00000338042.6_Intron	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	99					apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|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|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding	p.P99S(3)		endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			GTGCGACAGCCCAGACCCTGA	0.333000													7	166					0	0	1	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959752	45959752	+	Silent	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr21:45959752G>A	ENST00000400375.1	-	1	326	c.282C>T	c.(280-282)ccC>ccT	p.P94P	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	94	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						cctgctggcagggggaggagg	0.662000													7	607					0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111970268	111970268	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:111970268G>A	ENST00000374566.3	-	18	2331	c.1814C>T	c.(1813-1815)gCg>gTg	p.A605V		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	605						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACATGATCCGCAACAGGGGA	0.423000													6	578					0	0	1	0	0
ANKRD36BP2	0	broad.mit.edu	37	2	89082281	89082281	+	RNA	SNP	T	T	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:89082281T>C	ENST00000393525.3	+	0	503																											GCTGAGAAGGTAATTAAAGTC	0.323000													3	194					0	0	1	0	0
POM121L9P	0	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1																						CTCTCTCCTGTGGGAGGGGGG	0.632000													4	83					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118105363	118105363	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:118105363G>A	ENST00000425217.1	-	5	1054	c.1000C>T	c.(1000-1002)Cgc>Tgc	p.R334C	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Missense_Mutation_p.R60C|KSR2_ENST00000339824.5_Missense_Mutation_p.R363C	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	363					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)					CGGAGGGAGCGCTCGGACAGC	0.592000													25	70					0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24583191	24583191	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr22:24583191C>T	ENST00000358321.3	+	11	1925	c.1664C>T	c.(1663-1665)gCc>gTc	p.A555V		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	555	VWFD.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						TCGGTGGCTGCCGGGGACAGG	0.652000													5	273					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47575255	47575255	+	Silent	SNP	A	A	C	rs73943611	by1000genomes	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:47575255A>C	ENST00000253048.5	-	13	1963	c.1926T>G	c.(1924-1926)ccT>ccG	p.P642P	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	642	Pro-rich.						nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		cgtgcatgtcagggtgcatgt	0.662000													7	65					0	0	1	0	0
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				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	p.L91L(8)		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)		GCTGCGCCCGCTGCCAGCACA	0.731000													4	51					0	0	1	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31692255	31692255	+	Silent	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr21:31692255G>A	ENST00000360542.3	-	1	352	c.99C>T	c.(97-99)agC>agT	p.S33S		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	33						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						CACAGCTCACGCTGGTAGGGC	0.552000													64	412					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207787753	207787753	+	Nonsense_Mutation	SNP	C	C	T	rs55749440		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:207787753C>T	ENST00000367049.4	+	40	6580	c.6580C>T	c.(6580-6582)Cga>Tga	p.R2194*	CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1744					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTAGGTTCCGATTAAAAGG	0.423000													5	237					0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240908	39240908	+	Silent	SNP	T	T	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:39240908T>C	ENST00000391417.4	+	1	450	c.450T>C	c.(448-450)tgT>tgC	p.C150C		NM_033061.3	NP_149050.3			keratin associated protein 4-7									p.C150C(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						CCTTGTGCTGTGCCTCCTCTT	0.607000													5	35					0	0	1	0	0
ACTN3	89	broad.mit.edu	37	11	66330622	66330622	+	RNA	SNP	C	C	T	rs79516407	by1000genomes	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:66330622C>T	ENST00000513398.1	+	0	2761				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						CCCTGGACTACGTGGCCTTCT	0.632000													58	298					0	0	1	0	0
FAM104B	90736	broad.mit.edu	37	X	55185620	55185620	+	Missense_Mutation	SNP	G	G	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chrX:55185620G>C	ENST00000425133.2	-	2	100	c.62C>G	c.(61-63)tCc>tGc	p.S21C	FAM104B_ENST00000477847.2_Missense_Mutation_p.S18C|FAM104B_ENST00000489298.1_Missense_Mutation_p.S20C|FAM104B_ENST00000478918.1_5'UTR|FAM104B_ENST00000472571.2_Missense_Mutation_p.S21C|FAM104B_ENST00000358460.4_Missense_Mutation_p.S21C|FAM104B_ENST00000332132.4_Missense_Mutation_p.S21C	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	21										endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						GGGCTGGGTGGAATGATGGTT	0.383000													5	291					0	0	1	0	0
CEP170B	283638	broad.mit.edu	37	14	105361169	105361169	+	Silent	SNP	A	A	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr14:105361169A>C	ENST00000453495.1	+	19	4875	c.4647A>C	c.(4645-4647)tcA>tcC	p.S1549S	CEP170B_ENST00000556508.1_Silent_p.S1478S|CEP170B_ENST00000418279.1_Silent_p.S1443S|CEP170B_ENST00000414716.3_Silent_p.S1513S					centrosomal protein 170B									p.S1513S(3)|p.S1479S(3)|p.S1478S(1)									GCCCACCCTCACCCGCCTCAG	0.711000													17	98					0	0	1	0	0
TBX20	57057	broad.mit.edu	37	7	35271146	35271146	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:35271146C>T	ENST00000408931.3	-	6	1386	c.860G>A	c.(859-861)cGg>cAg	p.R287Q		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	287						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GGAGGAATCCCGGAATCCTTT	0.378000													29	275					0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98453722	98453722	+	Silent	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:98453722C>T	ENST00000450876.1	-	4	1699	c.384G>A	c.(382-384)gcG>gcA	p.A128A	TMEM130_ENST00000546258.1_Silent_p.A193A|TMEM130_ENST00000339375.4_Silent_p.A212A|TMEM130_ENST00000345589.4_Silent_p.A110A|TMEM130_ENST00000416379.2_Silent_p.A212A			Q8N3G9	TM130_HUMAN	transmembrane protein 130	212						Golgi membrane|integral to membrane		p.A212A(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTTCCCACTCCGCCACCACTT	0.587000													23	182					0	0	1	0	0
RBM5	10181	broad.mit.edu	37	3	50141711	50141711	+	Missense_Mutation	SNP	A	A	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr3:50141711A>G	ENST00000347869.3	+	8	773	c.598A>G	c.(598-600)Aaa>Gaa	p.K200E		NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	200					apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAAAAGACTAAAATGCTTCCG	0.398000													57	201					0	0	1	0	0
RPL32P3	0	broad.mit.edu	37	3	129116166	129116166	+	RNA	SNP	G	G	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr3:129116166G>C	ENST00000514355.1	-	0	412				SNORA7B_ENST00000384360.1_RNA																lung(1)	1						ATACTAGGCAGTCTCCAGATG	0.542000													8	819					0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110819841	110819841	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:110819841G>A	ENST00000282356.4	+	11	1497	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	CAMK4_ENST00000512453.1_Missense_Mutation_p.E367K|CAMK4_ENST00000512890.1_3'UTR	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	367					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		AGATGGCAACGAGGACATGAA	0.577000													41	446					0	0	1	0	0
SRMS	6725	broad.mit.edu	37	20	62172886	62172886	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr20:62172886C>T	ENST00000217188.1	-	6	1074	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	345	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GTGCACAACGCGCTGCTCCTC	0.706000													12	71					0	0	1	0	0
TRBV5-4	0	broad.mit.edu	37	7	142168890	142168890	+	RNA	SNP	C	C	T	rs143671051	by1000genomes	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:142168890C>T	ENST00000454561.2	-	0	155																											GGGCTTGGTCCTCCTGGGGAA	0.592000													5	134					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518661	108518661	+	Missense_Mutation	SNP	T	T	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr13:108518661T>C	ENST00000375915.2	-	1	422	c.284A>G	c.(283-285)cAg>cGg	p.Q95R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	95	Poly-Gln.					integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgccgccgctgctgctgctg	0.731000													6	210					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38433731	38433731	+	Silent	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:38433731C>T	ENST00000356264.2	-	18	1697	c.1482G>A	c.(1480-1482)gcG>gcA	p.A494A	AMPH_ENST00000428293.2_Silent_p.A452A|AMPH_ENST00000325590.5_Silent_p.A452A|AMPH_ENST00000471913.1_5'UTR	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	494					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TGGCCTTCTCCGCCTCTGCTT	0.572000													79	909					0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	57003893	57003893	+	Silent	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr16:57003893G>A	ENST00000200676.3	+	5	637	c.507G>A	c.(505-507)ctG>ctA	p.L169L	CETP_ENST00000566128.1_Silent_p.L104L|CETP_ENST00000569082.1_3'UTR|CETP_ENST00000379780.2_Silent_p.L169L	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	169					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						AGCTGCTCCTGCATCTCCAAG	0.602000													4	166					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196729627	196729627	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:196729627C>T	ENST00000312428.6	-	41	6852	c.6752G>A	c.(6751-6753)cGt>cAt	p.R2251H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2251					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAAATCCAAACGCTGAAAAAG	0.403000													168	592					0	0	1	0	0
RP11-178C3.2	0	broad.mit.edu	37	17	58066651	58066651	+	RNA	SNP	C	C	T	rs144367363	by1000genomes	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:58066651C>T	ENST00000586209.1	+	0	158																											ACTGGTAAAGCTGTTTAAGAG	0.333000													4	58					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184104344	184104344	+	Missense_Mutation	SNP	T	T	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr3:184104344T>G	ENST00000204604.1	+	16	2243	c.1997T>G	c.(1996-1998)gTg>gGg	p.V666G	CHRD_ENST00000450923.1_Missense_Mutation_p.V666G|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.V626G	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	666					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)			GCCGAGGGGGTGCGGGCGCTG	0.726000													7	35					0	0	1	0	0
LMCD1	29995	broad.mit.edu	37	3	8607273	8607273	+	Silent	SNP	A	A	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr3:8607273A>C	ENST00000157600.3	+	5	1111	c.879A>C	c.(877-879)gcA>gcC	p.A293A	LMCD1_ENST00000397386.3_Silent_p.A181A|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000454244.1_Silent_p.A220A	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	293	LIM zinc-binding 1.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AGGATGGTGCACCCTGGTGCG	0.632000													25	141					0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240900	39240900	+	Missense_Mutation	SNP	T	T	G	rs61746948		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:39240900T>G	ENST00000391417.4	+	1	442	c.442T>G	c.(442-444)Ttg>Gtg	p.L148V		NM_033061.3	NP_149050.3			keratin associated protein 4-7											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						TCCCCGCCCCTTGTGCTGTGC	0.627000													5	37					0	0	1	0	0
GOLGA8DP	0	broad.mit.edu	37	15	22709020	22709020	+	RNA	SNP	C	C	T	rs150718647	by1000genomes	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr15:22709020C>T	ENST00000314246.8	-	0	1376																											GGCCAGCTGCCGAAGCCTCTC	0.622000													16	141					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53683280	53683280	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:53683280G>A	ENST00000257934.4	+	22	5106	c.5015G>A	c.(5014-5016)cGc>cAc	p.R1672H	ESPL1_ENST00000552462.1_Missense_Mutation_p.R1672H	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1672					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCCCTGGCCCGCATCCAGCGC	0.597000													7	535					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22661478	22661478	+	RNA	SNP	T	T	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr22:22661478T>G	ENST00000426066.1	+	0	368					NR_027293.1																						CAGATGCGTCTGAAGAAACAT	0.488000													5	326					0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106532400	106532400	+	Missense_Mutation	SNP	T	T	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:106532400T>C	ENST00000261402.2	-	1	1411	c.32A>G	c.(31-33)gAc>gGc	p.D11G		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	11							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GTCGGGGCGGTCCCCCGCCAC	0.771000													5	18					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38958370	38958370	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:38958370G>A	ENST00000355481.4	+	25	3430	c.3299G>A	c.(3298-3300)cGc>cAc	p.R1100H	RYR1_ENST00000359596.3_Missense_Mutation_p.R1100H|RYR1_ENST00000360985.3_Missense_Mutation_p.R1100H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1100	6 X approximate repeats.|B30.2/SPRY 2.				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)	GGCGAGATGCGCGTGGGCTGG	0.627000													50	637					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33561211	33561211	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:33561211G>A	ENST00000504830.1	-	20	4381	c.4046C>T	c.(4045-4047)gCg>gTg	p.A1349V	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.A1264V	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1349	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTGGATGGCCGCACAGTCAGA	0.572000										HNSCC(64;0.19)			8	666					0	0	1	0	0
TUSC3	7991	broad.mit.edu	37	8	15601118	15601118	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr8:15601118C>T	ENST00000382020.4	+	8	1142	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	TUSC3_ENST00000506802.1_Missense_Mutation_p.R312W|TUSC3_ENST00000503731.1_Missense_Mutation_p.R312W	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	312					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TGGAAAAAGACGGAGTAAGTC	0.393000													26	815					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935498	30935498	+	Silent	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:30935498C>T	ENST00000355537.3	+	2	1176	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGTCGGCCAACGAGTTCCGCT	0.647000													124	1123					0	0	1	0	0
NBPF14	25832	broad.mit.edu	37	1	148012531	148012531	+	Silent	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:148012531C>T	ENST00000369219.1	-	12	1444	c.1428G>A	c.(1426-1428)aaG>aaA	p.K476K				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	476	NBPF 5.					cytoplasm		p.K476K(2)|p.K476N(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AGCCAACATGCTTTTCCTCCA	0.443000													5	67					0	0	1	0	0
LAP3	51056	broad.mit.edu	37	4	17579127	17579127	+	Silent	SNP	C	C	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr4:17579127C>G	ENST00000226299.4	+	1	313	c.39C>G	c.(37-39)gtC>gtG	p.V13V	LAP3_ENST00000606142.1_5'UTR	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	13					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						GGCGAGTAGTCGTCCGACGTC	0.697000													5	37					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28539892	28539892	+	Silent	SNP	A	A	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:28539892A>G	ENST00000452236.2	-	4	4391	c.3774T>C	c.(3772-3774)ccT>ccC	p.P1258P		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1258					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						cagcaagctcaggatagtcat	0.358000													13	351					0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44838993	44838993	+	Silent	SNP	G	G	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr20:44838993G>T	ENST00000372262.3	-	6	1639	c.1239C>A	c.(1237-1239)gtC>gtA	p.V413V	CDH22_ENST00000537909.1_Silent_p.V413V|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	413	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCACCACGCCGACCAGGGAGC	0.771000													6	32					0.00116845	0.00119986	1	1	0
PDGFRB	5159	broad.mit.edu	37	5	149506172	149506172	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:149506172G>A	ENST00000261799.4	-	11	2054	c.1585C>T	c.(1585-1587)Ccc>Tcc	p.P529S		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	529					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCTTAAAGGGCAAGGCTGGA	0.557000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								4	236					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34068135	34068135	+	Missense_Mutation	SNP	C	C	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:34068135C>A	ENST00000373381.4	-	43	6720	c.6544G>T	c.(6544-6546)Ggg>Tgg	p.G2182W	CSMD2_ENST00000373377.1_Missense_Mutation_p.G281W|CSMD2_ENST00000373388.2_Missense_Mutation_p.G281W|CSMD2_ENST00000373380.1_Missense_Mutation_p.G1055W	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2184	CUB 13.					integral to membrane|plasma membrane	protein binding	p.G2184W(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGATGTTCCCGCCACAAGGG	0.592000													4	58					0.150653	0.151446	1	1	0
PROP1	5626	broad.mit.edu	37	5	177421251	177421251	+	Silent	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:177421251C>T	ENST00000308304.2	-	2	506	c.198G>A	c.(196-198)ccG>ccA	p.P66P		NM_006261.4	NP_006252.3	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	66					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P66P(2)		endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			GCCGGGAGTGCGGGCGGCCCC	0.662000													5	393					0	0	1	0	0
RP11-85G18.6	0	broad.mit.edu	37	10	27535842	27535842	+	RNA	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr10:27535842C>T	ENST00000574842.1	+	0	255																											AAGTTGAATGCAGTCCCAGCG	0.458000													5	417					0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72358782	72358782	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr10:72358782C>T	ENST00000441259.1	-	3	855	c.695G>A	c.(694-696)cGc>cAc	p.R232H	PRF1_ENST00000373209.2_Missense_Mutation_p.R232H	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	232	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GGCCGATATGCGGCCACCCAG	0.657000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				5	334					0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4513206	4513206	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:4513206C>T	ENST00000301286.3	-	3	723	c.724G>A	c.(724-726)Ggt>Agt	p.G242S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	242	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane		p.G170S(1)|p.G242S(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GTGTCCACACCGGTCTGAATG	0.572000													30	1035					0	0	1	0	0
KLF12	11278	broad.mit.edu	37	13	74420080	74420080	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr13:74420080C>T	ENST00000377669.2	-	3	580	c.554G>A	c.(553-555)cGc>cAc	p.R185H	KLF12_ENST00000377666.4_Missense_Mutation_p.R185H|KLF12_ENST00000472022.1_5'UTR	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	185					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		CACGGGGATGCGGTGAACATG	0.502000													5	388					0	0	1	0	0
MUL1	79594	broad.mit.edu	37	1	20827710	20827710	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:20827710G>A	ENST00000264198.3	-	4	668	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	178					activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.R178W(1)		endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CCTTTGGGCCGCTCACCGCTG	0.582000													8	702					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63726845	63726845	+	Silent	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:63726845C>T	ENST00000421025.1	+	5	1103	c.834C>T	c.(832-834)agC>agT	p.S278S	ZNF679_ENST00000255746.4_Silent_p.S278S	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						AAGCCTTTAGCCGCTCCTCAA	0.438000													5	292					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52495453	52495453	+	Silent	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr14:52495453C>T	ENST00000216286.5	-	11	2516	c.2517G>A	c.(2515-2517)cgG>cgA	p.R839R	NID2_ENST00000541773.1_Silent_p.R786R	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	839	EGF-like 3; calcium-binding (Potential).					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TGCAAGTATGCCGGTCATCTG	0.453000													5	349					0	0	1	0	0
CCT6P1	0	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:65222986G>T	ENST00000442266.1	+	0	578																											GAATTCTGGCGTTTTTTACAA	0.289000													5	85					5.18039e-06	5.40686e-06	1	1	0
WBSCR27	155368	broad.mit.edu	37	7	73249275	73249275	+	Missense_Mutation	SNP	G	G	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:73249275G>C	ENST00000297873.4	-	6	585	c.536C>G	c.(535-537)gCt>gGt	p.A179G		NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27	179										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				GGCCTCCAGAGCCTCCTTGTA	0.662000													63	267					0	0	1	0	0
KIFC3	3801	broad.mit.edu	37	16	57829005	57829005	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr16:57829005C>T	ENST00000379655.4	-	3	478	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	KIFC3_ENST00000541240.1_Missense_Mutation_p.R96Q|KIFC3_ENST00000445690.2_Missense_Mutation_p.R74Q|KIFC3_ENST00000539578.1_5'UTR|KIFC3_ENST00000465878.2_5'UTR|KIFC3_ENST00000421376.2_5'UTR|KIFC3_ENST00000566975.1_5'UTR	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	74					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				AGCTGCACTTCGGGCACTGGA	0.637000													27	182					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72131100	72131100	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:72131100G>A	ENST00000265381.4	-	2	1249	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	343					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						ATGGCATCGCGCTTCTCCTTG	0.706000													25	394					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3240231	3240231	+	Silent	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chrX:3240231C>T	ENST00000217939.6	-	5	3649	c.3495G>A	c.(3493-3495)cgG>cgA	p.R1165R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1165						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTTGCTTGTGCCGGTGGCGGA	0.498000													5	471					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47575243	47575243	+	Silent	SNP	T	T	A	rs392366		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:47575243T>A	ENST00000253048.5	-	13	1975	c.1938A>T	c.(1936-1938)gcA>gcT	p.A646A	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	646	Pro-rich.						nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		cgtgcatgtctgcgtgcatgt	0.662000													3	83					0	0	1	0	0
STXBP5	0	broad.mit.edu	37	6	147525792	147525792	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:147525792C>T	ENST00000367481.3	+	1	232	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	STXBP5_ENST00000367480.3_Nonsense_Mutation_p.Q42*|STXBP5_ENST00000321680.6_Nonsense_Mutation_p.Q42*|STXBP5_ENST00000546097.1_Nonsense_Mutation_p.Q42*	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	42					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GGAAACGCTCCAGTCCGAGCA	0.632000													17	156					0	0	1	0	0
FANCC	2176	broad.mit.edu	37	9	97864014	97864014	+	Missense_Mutation	SNP	A	A	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:97864014A>G	ENST00000289081.3	-	15	1906	c.1652T>C	c.(1651-1653)cTt>cCt	p.L551P	FANCC_ENST00000375305.1_Missense_Mutation_p.L551P	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	551					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				CAGCTCTTTAAGGAGCTCTCG	0.542000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				18	180					0	0	1	0	0
NLGN3	54413	broad.mit.edu	37	X	70389238	70389238	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chrX:70389238G>A	ENST00000374051.3	+	7	2100	c.1778G>A	c.(1777-1779)cGa>cAa	p.R593Q	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.R573Q|NLGN3_ENST00000358741.3_Missense_Mutation_p.R613Q	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	613					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CCAAGGGTCCGAGATCATTAC	0.522000													17	48					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47575245	47575245	+	Missense_Mutation	SNP	C	C	G	rs381976		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:47575245C>G	ENST00000253048.5	-	13	1973	c.1936G>C	c.(1936-1938)Gca>Cca	p.A646P	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	646	Pro-rich.						nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		tgcatgtctgcgtgcatgtca	0.662000													4	76					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109784477	109784477	+	Missense_Mutation	SNP	T	T	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr4:109784477T>C	ENST00000399132.1	-	21	1680	c.1150A>G	c.(1150-1152)Aag>Gag	p.K384E	COL25A1_ENST00000399126.1_Missense_Mutation_p.K384E|COL25A1_ENST00000399127.1_Missense_Mutation_p.K380E	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	384	Collagen-like 5.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TAACTCACCTTTGGTCCGGGG	0.438000													26	181					0	0	1	0	0
HAND2	9464	broad.mit.edu	37	4	174450243	174450243	+	Silent	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr4:174450243G>A	ENST00000359562.4	-	1	1137	c.198C>T	c.(196-198)ccC>ccT	p.P66P	HAND2-AS1_ENST00000515310.1_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000512099.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	66					adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TGGCATACTCGGGGCTGTAGG	0.741000													8	60					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21064273	21064273	+	Silent	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr22:21064273G>A	ENST00000255882.6	-	53	6182	c.6096C>T	c.(6094-6096)gaC>gaT	p.D2032D	PI4KA_ENST00000414196.3_Silent_p.D784D|PI4KA_ENST00000572273.1_Silent_p.D1974D	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1974					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGACGACCGCGTCCATGTAGG	0.612000													5	383					0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78326807	78326807	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:78326807C>T	ENST00000255189.3	-	10	1560	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	DMGDH_ENST00000540686.1_Missense_Mutation_p.R131H|DMGDH_ENST00000380311.4_Missense_Mutation_p.R310H	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	511					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CCAGTTTGTGCGGCGAAAACT	0.398000													5	264					0	0	1	0	0
ZNF202	7753	broad.mit.edu	37	11	123597658	123597658	+	Missense_Mutation	SNP	C	C	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:123597658C>G	ENST00000336139.4	-	8	1356	c.994G>C	c.(994-996)Gat>Cat	p.D332H	ZNF202_ENST00000530393.1_Missense_Mutation_p.D332H|ZNF202_ENST00000529691.1_Missense_Mutation_p.D332H			O95125	ZN202_HUMAN	zinc finger protein 202	332					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		AAACTCAGATCTTCCTGCTCC	0.468000													174	1483					0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43197470	43197470	+	RNA	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr8:43197470C>T	ENST00000522175.2	+	0	1223							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGATTTTAACGGTAGGACCA	0.373000													7	741					0	0	1	0	0
ACHE	43	broad.mit.edu	37	7	100491142	100491142	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:100491142C>T	ENST00000302913.4	-	2	850	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	ACHE_ENST00000411582.1_Missense_Mutation_p.A238T|ACHE_ENST00000412389.1_Missense_Mutation_p.A238T|ACHE_ENST00000241069.5_Missense_Mutation_p.A238T|ACHE_ENST00000419336.2_Missense_Mutation_p.A238T|ACHE_ENST00000428317.1_Missense_Mutation_p.A238T	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	238					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)	CCCACCGAGGCGGCTCCCGCG	0.706000													37	406					0	0	1	0	0
SLC25A23	79085	broad.mit.edu	37	19	6452423	6452423	+	Missense_Mutation	SNP	C	C	T	rs61729423	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:6452423C>T	ENST00000301454.4	-	8	1077	c.971G>A	c.(970-972)cGt>cAt	p.R324H	SLC25A23_ENST00000414491.2_Intron|SLC25A23_ENST00000334510.5_Missense_Mutation_p.R324H	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	324					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						CTCCAGGATACGCCTGGCGCA	0.652000													45	135					0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12059966	12059966	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:12059966C>G	ENST00000482090.1	+	3	1491	c.1073C>G	c.(1072-1074)tCa>tGa	p.S358*	ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000254321.5_Nonsense_Mutation_p.S376*|CTD-2006C1.12_ENST00000586394.1_RNA			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TCTGCCAAGTCATTTCAAACA	0.343000													107	320					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179614364	179614364	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:179614364C>A	ENST00000360870.5	-	46	12985	c.12763G>T	c.(12763-12765)Gaa>Taa	p.E4255*	TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	406							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)			TGACTATTTTCTCTATAAGTG	0.353000													57	456					1.25972e-11	1.34417e-11	1	1	0
KIF23	9493	broad.mit.edu	37	15	69715496	69715496	+	Splice_Site	SNP	A	A	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr15:69715496A>T	ENST00000260363.4	+	7	680		c.e7-1		KIF23_ENST00000559279.1_Splice_Site|KIF23_ENST00000558585.1_Splice_Site|KIF23_ENST00000537891.1_5'UTR|KIF23_ENST00000395392.2_Splice_Site|KIF23_ENST00000352331.4_Splice_Site	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23						blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TTCTTTTTTTAGACGACAAGT	0.383000													7	375					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	433473	433473	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr3:433473T>A	ENST00000256509.2	+	23	3549	c.2907T>A	c.(2905-2907)taT>taA	p.Y969*	CHL1_ENST00000397491.2_Nonsense_Mutation_p.Y953*	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	953	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.Y969Y(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTTTGCAATATCAGATAAGTA	0.318000													30	350					0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48631710	48631710	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:48631710G>A	ENST00000006658.6	+	15	2176	c.2056G>A	c.(2056-2058)Gtg>Atg	p.V686M	SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000356488.4_Missense_Mutation_p.V670M|SPATA20_ENST00000393244.3_Missense_Mutation_p.V626M	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	670					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GGACAAGTGTGTGTGCCTATT	0.632000													74	508					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875276	247875276	+	Missense_Mutation	SNP	C	C	T	rs149671274	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:247875276C>T	ENST00000302084.2	-	1	829	c.782G>A	c.(781-783)cGc>cAc	p.R261H	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GATAGAGGTGCGGACGTGAAG	0.517000													99	515					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16024596	16024596	+	Silent	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:16024596G>A	ENST00000402119.3	-	12	1947	c.1521C>T	c.(1519-1521)cgC>cgT	p.R507R	CYP4F11_ENST00000248041.7_Silent_p.R507R|CYP4F11_ENST00000326742.7_3'UTR	NM_021187.3	NP_067010.3	Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	507					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CACCCTCTGCGCGCAATATCA	0.612000													23	211					0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51685907	51685907	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:51685907G>T	ENST00000267012.4	-	10	1044	c.983C>A	c.(982-984)gCa>gAa	p.A328E	BIN2_ENST00000452142.2_Missense_Mutation_p.A296E|BIN2_ENST00000604560.1_Missense_Mutation_p.A301E|BIN2_ENST00000544402.1_Missense_Mutation_p.A302E	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	328						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						AGAGGAGCTTGCTTCAGATCC	0.547000													34	441					9.65021e-13	1.0355e-12	1	1	0
OTX1	5013	broad.mit.edu	37	2	63283271	63283271	+	Silent	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:63283271C>T	ENST00000366671.3	+	5	1161	c.885C>T	c.(883-885)caC>caT	p.H295H	OTX1_ENST00000282549.2_Silent_p.H295H	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	295	His-rich.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					accaccaccaccatcaccacc	0.637000													6	441					0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126125189	126125189	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:126125189G>A	ENST00000373631.3	+	2	141	c.140G>A	c.(139-141)tGc>tAc	p.C47Y	CRB2_ENST00000359999.3_Missense_Mutation_p.C47Y	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	47						extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TCAGACCCGTGCGCTCCAGGG	0.647000													88	673					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178416069	178416069	+	Silent	SNP	C	C	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:178416069C>A	ENST00000231188.5	-	6	1399	c.1221G>T	c.(1219-1221)gcG>gcT	p.A407A	GRM6_ENST00000517717.1_Silent_p.A407A|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	407					detection of visible light|visual perception	integral to plasma membrane		p.A407A(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		TGGCGTACACCGCATCAATCA	0.647000													4	201					0.00909568	0.00919193	1	1	0
RP11-114H24.7	0	broad.mit.edu	37	15	78211517	78211517	+	RNA	SNP	C	C	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557000													8	917					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22658659	22658659	+	Silent	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr21:22658659C>T	ENST00000400546.1	+	4	657	c.408C>T	c.(406-408)tgC>tgT	p.C136C	NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Silent_p.C161C	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	136	Ig-like C2-type 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AAGTGGTTTGCCGAGTTAGCA	0.398000													4	221					0	0	1	0	0
IGLC2	0	broad.mit.edu	37	22	23243367	23243367	+	RNA	SNP	T	T	C	rs8033	by1000genomes	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr22:23243367T>C	ENST00000390323.2	+	0	212																											CCAGCAGCTATCTGAGCCTGA	0.587000													5	196					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145156919	145156919	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:145156919G>A	ENST00000558170.2	-	8	3019	c.1835C>T	c.(1834-1836)gCg>gTg	p.A612V	ZEB2_ENST00000409487.3_Missense_Mutation_p.A612V|ZEB2_ENST00000539609.3_Missense_Mutation_p.A588V|ZEB2_ENST00000303660.4_Missense_Mutation_p.A612V	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	612						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTGCAGGACCGCCTTGATCTC	0.433000													48	483					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120589168	120589168	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:120589168G>A	ENST00000300648.6	-	34	4102	c.4090C>T	c.(4090-4092)Cca>Tca	p.P1364S		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1364					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACAAGGGGTGGCAAGCAGCTG	0.612000													4	225					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33143414	33143414	+	Missense_Mutation	SNP	C	C	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:33143414C>A	ENST00000341947.2	-	30	2540	c.2313G>T	c.(2311-2313)gaG>gaT	p.E771D	COL11A2_ENST00000395197.1_Missense_Mutation_p.E711D|COL11A2_ENST00000361917.1_Missense_Mutation_p.E664D|COL11A2_ENST00000374714.1_Missense_Mutation_p.E745D|COL11A2_ENST00000374713.1_Missense_Mutation_p.E724D|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.E690D|COL11A2_ENST00000374708.4_Missense_Mutation_p.E685D|COL11A2_ENST00000357486.1_Missense_Mutation_p.E750D	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	771	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						CCTTTGGCCCCTCAGGACCAT	0.657000													5	488					0.217242	0.217242	1	1	0
DENND4B	9909	broad.mit.edu	37	1	153907297	153907297	+	Silent	SNP	C	C	T	rs75341579	by1000genomes	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:153907297C>T	ENST00000361217.4	-	18	3130	c.2712G>A	c.(2710-2712)caG>caA	p.Q904Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	904	Gln-rich.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgctgctgctgctgtt	0.632000													12	364					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			52	116					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29400578	29400578	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr15:29400578G>A	ENST00000558402.1	+	14	2622	c.2023G>A	c.(2023-2025)Gtg>Atg	p.V675M	APBA2_ENST00000558330.1_Missense_Mutation_p.V663M|APBA2_ENST00000558259.1_Missense_Mutation_p.V675M|APBA2_ENST00000561069.1_Missense_Mutation_p.V675M|APBA2_ENST00000411764.1_Missense_Mutation_p.V663M			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	675	PDZ 2.				nervous system development|protein transport		protein binding	p.V675M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GGGCTTCAGCGTGCAGAATGG	0.607000													113	448					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	61975386	61975386	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr3:61975386C>T	ENST00000474889.1	+	3	655	c.278C>T	c.(277-279)gCg>gTg	p.A93V	PTPRG_ENST00000295874.10_Missense_Mutation_p.A93V	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	93	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GACCAGTATGCGCGTGTTGGG	0.488000													6	387					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													8	269					0	0	1	0	0
FBXO16	157574	broad.mit.edu	37	8	28314447	28314447	+	Splice_Site	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr8:28314447C>T	ENST00000380254.2	-	5	491	c.342_splice	c.e5-1	p.V115_splice	FBXO16_ENST00000518734.1_Splice_Site_p.V103_splice|FBXO16_ENST00000517436.1_5'UTR|FBXO16_ENST00000346498.2_Splice_Site_p.V103_splice	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	115	F-box.									large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		TGCCAGCACACCTGGAAAAAC	0.428000													22	259					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1065587	1065587	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:1065587G>A	ENST00000264930.5	-	18	2291	c.2248C>T	c.(2248-2250)Cgg>Tgg	p.R750W		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	750					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ATTAGGGACCGTATGTTCTGC	0.642000													6	302					0	0	1	0	0
ZRANB3	84083	broad.mit.edu	37	2	136071117	136071117	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:136071117G>A	ENST00000401392.1	-	8	1120	c.908C>T	c.(907-909)gCc>gTc	p.A303V	ZRANB3_ENST00000536680.1_Missense_Mutation_p.A303V|ZRANB3_ENST00000264159.6_Missense_Mutation_p.A303V			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	303						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TGTCTCCATGGCACCTGAATT	0.373000													84	706					0	0	1	0	0
POM121L9P	0	broad.mit.edu	37	22	24659764	24659764	+	RNA	SNP	C	C	G	rs143464834	by1000genomes	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr22:24659764C>G	ENST00000414583.2	+	0	3289					NR_003714.1																						AGTGTCCTAACAGCCCTGCTT	0.627000													3	60					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222716971	222716971	+	Silent	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:222716971C>T	ENST00000343410.6	-	2	940	c.882G>A	c.(880-882)tcG>tcA	p.S294S		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	294					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TGTCCAGGCACGAATAATAAA	0.473000													393	1597					0	0	1	0	0
HIST1H4B	8366	broad.mit.edu	37	6	26027283	26027283	+	Silent	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:26027283C>T	ENST00000377364.3	-	1	197	c.198G>A	c.(196-198)gtG>gtA	p.V66V		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	66					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						CGTCCCGGATCACGTTCTCCA	0.572000											OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	271					0	0	1	0	0
HOXC11	3227	broad.mit.edu	37	12	54367353	54367353	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:54367353G>A	ENST00000546378.1	+	1	444	c.328G>A	c.(328-330)Gtc>Atc	p.V110I	HOXC11_ENST00000243082.4_Missense_Mutation_p.V110I|HOTAIR_ENST00000424518.1_RNA|HOTAIR_ENST00000455246.1_RNA			O43248	HXC11_HUMAN	homeobox C11	110					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						TCCTTCCACCGTCACCGAGAT	0.642000			T	NUP98	AML								327	1247					0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:115080343G>T	ENST00000537058.1	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537140.1_Intron			Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	343				PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433000													8	380					0.000157383	0.000162488	1	1	0
DST	667	broad.mit.edu	37	6	56357816	56357816	+	Silent	SNP	A	A	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:56357816A>T	ENST00000370754.5	-	84	20372	c.20373T>A	c.(20371-20373)ctT>ctA	p.L6791L	DST_ENST00000370769.4_Silent_p.L6613L|DST_ENST00000370788.2_Silent_p.L4416L|DST_ENST00000361203.3_Silent_p.L6502L|DST_ENST00000446842.2_Silent_p.L6287L|DST_ENST00000421834.2_Silent_p.L4525L|DST_ENST00000244364.6_Silent_p.L4199L|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	6611					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CAGCCTGAGTAAGCCAGTTGA	0.428000													17	108					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24924064	24924064	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr15:24924064G>A	ENST00000329468.2	+	1	3524	c.3050G>A	c.(3049-3051)gGt>gAt	p.G1017D		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCTATGGATGGTGGGAGCATT	0.537000													31	292					0	0	1	0	0
FAM104B	90736	broad.mit.edu	37	X	55172537	55172537	+	Nonsense_Mutation	SNP	G	G	A	rs1047054	by1000genomes	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chrX:55172537G>A	ENST00000425133.2	-	3	369	c.331C>T	c.(331-333)Cga>Tga	p.R111*	FAM104B_ENST00000477847.2_Nonsense_Mutation_p.R107*|FAM104B_ENST00000489298.1_Nonsense_Mutation_p.R109*|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000332132.4_Intron	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	0								p.R111*(5)		endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						GCTTGCCCTCGCTGCTGCAGG	0.438000													4	151					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64124622	64124622	+	Missense_Mutation	SNP	G	G	A	rs61886888	by1000genomes	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:64124622G>A	ENST00000359902.2	+	14	1951	c.1801G>A	c.(1801-1803)Gga>Aga	p.G601R	CCDC88B_ENST00000301897.4_3'UTR|CCDC88B_ENST00000356786.5_3'UTR|CCDC88B_ENST00000463837.1_3'UTR			A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1424					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAGTGTCAGCGGAGGCCCCAG	0.667000													4	235					0	0	1	0	0
MTMR12	54545	broad.mit.edu	37	5	32268842	32268842	+	Missense_Mutation	SNP	A	A	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:32268842A>T	ENST00000382142.3	-	6	718	c.548T>A	c.(547-549)cTg>cAg	p.L183Q	MTMR12_ENST00000280285.5_Missense_Mutation_p.L183Q|MTMR12_ENST00000264934.5_Missense_Mutation_p.L183Q	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	183						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						ATAGGAAAACAGAAATAATCG	0.388000													87	373					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262039	39262039	+	Missense_Mutation	SNP	C	C	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:39262039C>G	ENST00000391415.1	+	1	456	c.399C>G	c.(397-399)agC>agG	p.S133R		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	133	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament		p.S133R(1)|p.S121R(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						gtgtgtccagctgctgcaagc	0.652000													7	169					0	0	1	0	0
IL27	246778	broad.mit.edu	37	16	28515269	28515269	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr16:28515269C>T	ENST00000356897.1	-	2	156	c.134G>A	c.(133-135)aGg>aAg	p.R45K		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	45					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						TGTGAACTCCCTCCGCAGCTC	0.642000													85	298					0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40813466	40813466	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr22:40813466G>A	ENST00000396617.3	-	13	2686	c.2096C>T	c.(2095-2097)gCc>gTc	p.A699V	MKL1_ENST00000407029.1_Missense_Mutation_p.A699V|MKL1_ENST00000402042.1_Missense_Mutation_p.A649V|MKL1_ENST00000355630.3_Missense_Mutation_p.A699V			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	699	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGCAGAGGGGGCAGGCGCTGG	0.662000			T	RBM15	acute megakaryocytic leukemia								3	45					0	0	1	0	0
CCT6P3	0	broad.mit.edu	37	7	64498737	64498737	+	RNA	SNP	C	C	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:64498737C>A	ENST00000426828.1	+	0	0					NR_033416.1																						gaggcggtggcggcggcggca	0.786000													8	58					5.01169e-05	5.20236e-05	1	1	0
ZNF799	90576	broad.mit.edu	37	19	12502436	12502436	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:12502436G>T	ENST00000419318.1	-	4	1429	c.680C>A	c.(679-681)tCt>tAt	p.S227Y	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.S259Y			Q96GE5	ZN799_HUMAN	zinc finger protein 799	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						GAAGGCTTTAGAACACTGTTT	0.378000													70	748					7.62465e-47	8.32176e-47	1	1	0
PBDC1	51260	broad.mit.edu	37	X	75397752	75397752	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chrX:75397752G>A	ENST00000373357.3	+	5	698	c.599G>A	c.(598-600)aGg>aAg	p.R200K	PBDC1_ENST00000373358.3_3'UTR					polysaccharide biosynthesis domain containing 1																		AAGGTATACAGGGAACAGCAC	0.388000													27	131					0	0	1	0	0
HSPA8	3312	broad.mit.edu	37	11	122931494	122931494	+	Missense_Mutation	SNP	A	A	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:122931494A>G	ENST00000534624.1	-	3	494	c.218T>C	c.(217-219)cTg>cCg	p.L73P	HSPA8_ENST00000526110.1_Missense_Mutation_p.L73P|HSPA8_ENST00000533540.1_Missense_Mutation_p.L73P|HSPA8_ENST00000227378.3_Missense_Mutation_p.L73P|HSPA8_ENST00000532636.1_Missense_Mutation_p.L73P|HSPA8_ENST00000453788.2_Missense_Mutation_p.L73P	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	73					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GCGTCCAATCAGACGTTTGGC	0.403000													85	315					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89692944	89692944	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr10:89692944G>A	ENST00000371953.3	+	5	1785	c.428G>A	c.(427-429)gGc>gAc	p.G143D		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	143	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.G143fs*4(2)|p.Y27fs*1(2)|p.A121_F145del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTACATCGGGGCAAATTTTTA	0.388000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			7	666					0	0	1	0	0
SDHAP3	0	broad.mit.edu	37	5	1593386	1593386	+	RNA	SNP	A	A	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:1593386A>C	ENST00000436493.2	-	0	239																											CTGGCCATTCACGTGCCTCAG	0.597000													5	344					0	0	1	0	0
BEX4	56271	broad.mit.edu	37	X	102471391	102471391	+	Missense_Mutation	SNP	C	C	T	rs139178618	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chrX:102471391C>T	ENST00000372695.5	+	3	545	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	BEX4_ENST00000372691.3_Missense_Mutation_p.R104C	NM_001080425.3	NP_001073894.1	Q9NWD9	BEX4_HUMAN	brain expressed, X-linked 4	104						cytoplasm|nucleus				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	9						GCACTATATGCGCTTCCAAAC	0.418000													5	408					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34077157	34077157	+	Missense_Mutation	SNP	T	T	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:34077157T>G	ENST00000254466.6	-	2	593	c.566A>C	c.(565-567)gAc>gCc	p.D189A	GAS2L2_ENST00000587565.1_Intron	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	189					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)		CGGCGAGGGGTCGGGCGGGGG	0.741000													31	375					0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6536011	6536013	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:6536011_6536013delCTC	ENST00000377748.1	-	4	855_857	c.358_360delGAG	c.(358-360)del	p.E120del	PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	99					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCACAGAGCTCTCCTCCTCCTCC	0.631											OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	642	---	---	---	---					
EXTL1	2134	broad.mit.edu	37	1	26349533	26349535	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:26349533_26349535delCCT	ENST00000374280.3	+	1	1263_1265	c.396_398delCCT	c.(394-399)tgc>tg	p.CL132del		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	132					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGGCCTGCCTCCTCCTCCTC	0.606													7	369	---	---	---	---					
EIF2B3	8891	broad.mit.edu	37	1	45407182	45407182	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr1:45407182delT	ENST00000360403.2	-	4	576	c.450delA	c.(448-450)aafs	p.K150fs	EIF2B3_ENST00000372183.3_Frame_Shift_Del_p.K150fs|EIF2B3_ENST00000480675.1_5'UTR	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	150					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					CCTTACCTGCTTTTTTTTTCC	0.358													11	654	---	---	---	---					
AC019118.2	0	broad.mit.edu	37	2	2910722	2910723	+	RNA	INS	-	-	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:2910722_2910723insT	ENST00000457478.1	-	0	594																											tccaccccctctccccagccca	0.708													20	27	---	---	---	---					
AC073479.1	0	broad.mit.edu	37	2	6090578	6090587	+	RNA	DEL	ACACACACAG	ACACACACAG	-	rs71400860	by1000genomes	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:6090578_6090587delACACACACAG	ENST00000431188.1	+	0	134																											acacacacacacacacacagacacacacac	0.338													2	4	---	---	---	---					
HEATR5B	54497	broad.mit.edu	37	2	37259800	37259801	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:37259800_37259801insT	ENST00000233099.5	-	22	3427_3428	c.3332_3333insA	c.(3331-3333)aacfs	p.N1111fs	HEATR5B_ENST00000354531.2_Frame_Shift_Ins_p.N1111fs	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1111							binding	p.N1111K(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TGTCCCCTGTATTTTTTGCCAG	0.386													62	515	---	---	---	---					
SOS1	6654	broad.mit.edu	37	2	39213243	39213243	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:39213243delT	ENST00000426016.1	-	24	3810	c.3724delA	c.(3724-3726)gtfs	p.S1242fs	SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs|SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1242					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CCATGGTCACTTTTTTTGCCC	0.517									Noonan syndrome				8	608	---	---	---	---					
UGP2	7360	broad.mit.edu	37	2	64084969	64084969	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:64084969delA	ENST00000337130.5	+	3	630	c.154delA	c.(154-156)aafs	p.K53fs	UGP2_ENST00000487469.1_Intron|UGP2_ENST00000467648.2_Frame_Shift_Del_p.K42fs|UGP2_ENST00000445915.2_Frame_Shift_Del_p.K62fs|UGP2_ENST00000394417.2_Frame_Shift_Del_p.K42fs	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	53					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						ACAGCACACCAAAAAAGACCT	0.358													7	1782	---	---	---	---					
WBP1	23559	broad.mit.edu	37	2	74687542	74687543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:74687542_74687543insC	ENST00000393972.3	+	5	849_850	c.646_647insC	c.(646-648)cccfs	p.P216fs	WBP1_ENST00000233615.2_Frame_Shift_Ins_p.P182fs|WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000409737.1_Frame_Shift_Ins_p.P179fs			Q96G27	WBP1_HUMAN	WW domain binding protein 1	182							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CCACCAGAGTGCCCCCCCTCAT	0.604													7	1027	---	---	---	---					
AC027612.3	0	broad.mit.edu	37	2	91887905	91887906	+	RNA	INS	-	-	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:91887905_91887906insT	ENST00000436174.1	-	0	540																											GCTATTTTCCATTTTTTTTTTT	0.292													7	297	---	---	---	---					
AC097374.2	0	broad.mit.edu	37	2	95558033	95558034	+	RNA	INS	-	-	A	rs35245431		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:95558033_95558034insA	ENST00000568768.1	-	0	476																											TTCTAAGAGTCAAAAAAACTGT	0.317													11	9	---	---	---	---					
AC097374.2	0	broad.mit.edu	37	2	95558422	95558423	+	RNA	INS	-	-	T	rs5832787		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:95558422_95558423insT	ENST00000568768.1	-	0	476																											ATCTGGACCCCGTTTGCAATCT	0.475													7	117	---	---	---	---					
AC010884.1	0	broad.mit.edu	37	2	105596111	105596111	+	RNA	DEL	A	A	-	rs66724619		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:105596111delA	ENST00000456519.1	-	0	43																											agaaagaaagaaaagaaagaa	0.358													4	8	---	---	---	---					
AC024704.2	0	broad.mit.edu	37	2	114588351	114588352	+	RNA	DEL	AC	AC	-	rs71297190		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:114588351_114588352delAC	ENST00000435407.1	-	0	268																											CGACAACAAAacacacacacac	0.500													3	2	---	---	---	---					
FKBP7	51661	broad.mit.edu	37	2	179343164	179343164	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:179343164delA	ENST00000424785.2	-	1	121	c.63delT	c.(61-63)ttfs	p.F21fs	FKBP7_ENST00000434643.2_Frame_Shift_Del_p.F21fs|FKBP7_ENST00000464248.1_5'UTR	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	21					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TCTGAGCAGTAAAAAGGCCCC	0.448													9	1413	---	---	---	---					
AC131097.3	0	broad.mit.edu	37	2	242823746	242823749	+	RNA	DEL	GTGT	GTGT	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr2:242823746_242823749delGTGT	ENST00000430555.1	+	0	116				AC131097.3_ENST00000415434.1_RNA|AC131097.3_ENST00000457686.1_RNA																							GTGGCCCAGCgtgtgtgtgtgtgt	0.691													4	4	---	---	---	---					
RP11-572M11.4	0	broad.mit.edu	37	3	112892065	112892066	+	RNA	INS	-	-	GGAA	rs71134882		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr3:112892065_112892066insGGAA	ENST00000496389.1	+	0	485				RP11-572M11.4_ENST00000463017.1_RNA																							AGGTAAGTaggggaaggaagga	0.475													4	2	---	---	---	---					
AC226119.5	0	broad.mit.edu	37	4	3954951	3954952	+	RNA	INS	-	-	A			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr4:3954951_3954952insA	ENST00000281228.8	-	0	98				FAM86EP_ENST00000313946.8_RNA																							ACAAGAACATTAAACACGCAAT	0.495													9	238	---	---	---	---					
CLOCK	9575	broad.mit.edu	37	4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr4:56304530_56304532delCTG	ENST00000309964.4	-	21	2528_2530	c.2278_2280delCAG	c.(2278-2280)del	p.Q760del	CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	760	Gln-rich.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512													8	279	---	---	---	---					
MMRN1	22915	broad.mit.edu	37	4	90844391	90844393	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr4:90844391_90844393delAGC	ENST00000394980.1	+	5	1242_1244	c.923_925delAGC	c.(922-927)gag>g	p.EQ308del	MMRN1_ENST00000508372.1_In_Frame_Del_p.EQ50del|MMRN1_ENST00000394981.1_In_Frame_Del_p.EQ274del|MMRN1_ENST00000264790.2_In_Frame_Del_p.EQ308del			Q13201	MMRN1_HUMAN	multimerin 1	308					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GGAGTAGCTGAGCAGCAGCAGCA	0.448													11	1518	---	---	---	---					
CTD-2374C24.1	0	broad.mit.edu	37	5	104533565	104533566	+	RNA	INS	-	-	TG	rs10635719		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:104533565_104533566insTG	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							TTACAGTAGTTtgtgtgtgtgt	0.322													3	4	---	---	---	---					
RP11-536N17.1	0	broad.mit.edu	37	5	172243975	172243975	+	RNA	DEL	A	A	-	rs11354549		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr5:172243975delA	ENST00000518260.1	+	0	105																											TCAGGGaaacaaaaaaaaaaa	0.408													3	3	---	---	---	---					
RP1-223B1.1	0	broad.mit.edu	37	6	3615264	3615267	+	RNA	DEL	GAAG	GAAG	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:3615264_3615267delGAAG	ENST00000443445.1	-	0	500																											aggaaggaaagaaggaaggaagga	0.495													4	8	---	---	---	---					
BTN2A3P	0	broad.mit.edu	37	6	26422627	26422628	+	RNA	INS	-	-	A	rs3734537	by1000genomes	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:26422627_26422628insA	ENST00000466808.2	+	0	79																											gcaaattttccaaaaaaattaa	0.292													5	10	---	---	---	---					
NOX3	50508	broad.mit.edu	37	6	155743925	155743926	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:155743925_155743926delCA	ENST00000159060.2	-	10	1312_1313	c.1210_1211delTG	c.(1210-1212)cfs	p.C404fs		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	404							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGCGGCAACGCACACACACACT	0.530													7	865	---	---	---	---					
IGF2R	3482	broad.mit.edu	37	6	160485488	160485488	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr6:160485488delG	ENST00000356956.1	+	28	4090	c.3942delG	c.(3940-3942)acfs	p.T1314fs		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1314					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TGAACTTCACGGGGGGGGACA	0.502													10	1134	---	---	---	---					
AC073333.8	0	broad.mit.edu	37	7	16750422	16750422	+	RNA	DEL	T	T	-	rs67313178		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:16750422delT	ENST00000418907.1	-	0	72																											ATGAAACAAATTTTTTTTTTT	0.338													4	8	---	---	---	---					
FOXP2	93986	broad.mit.edu	37	7	114269971	114269973	+	In_Frame_Del	DEL	CAA	CAA	-	rs149757187		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:114269971_114269973delCAA	ENST00000393500.3	+	11	1103_1105	c.283_285delCAA	c.(283-285)del	p.Q116del	FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del			O15409	FOXP2_HUMAN	forkhead box P2	191	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						acagcagcagcaacaacaacaac	0.502													10	268	---	---	---	---					
WASL	8976	broad.mit.edu	37	7	123329093	123329094	+	Splice_Site	DEL	TA	TA	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr7:123329093_123329094delTA	ENST00000223023.4	-	10	1789		c.e10+1			NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like						actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						tctctctctctACCTGAAGAAT	0.431													8	1546	---	---	---	---					
SGCZ	137868	broad.mit.edu	37	8	13948053	13948056	+	Frame_Shift_Del	DEL	CTGT	CTGT	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr8:13948053_13948056delCTGT	ENST00000382080.1	-	8	1550_1553	c.835_838delACAG	c.(835-840)tgfs	p.TV279fs	SGCZ_ENST00000421524.2_Frame_Shift_Del_p.TV232fs	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	266					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		AGTTCATACACTGTCTGTCGAGAA	0.471													63	641	---	---	---	---					
RP11-459E5.1	0	broad.mit.edu	37	8	22557108	22557109	+	RNA	INS	-	-	G	rs148552174	by1000genomes	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr8:22557108_22557109insG	ENST00000523627.1	+	0	164																											aggaaaagaaagaaagaaagaa	0.401													11	6	---	---	---	---					
TEX15	56154	broad.mit.edu	37	8	30703516	30703516	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr8:30703516delT	ENST00000256246.2	-	1	3092	c.3018delA	c.(3016-3018)aafs	p.K1006fs		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1006										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTCTATGAGCTTTTTTTAAGT	0.323													8	1398	---	---	---	---					
UBR5	51366	broad.mit.edu	37	8	103289348	103289349	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr8:103289348_103289349insT	ENST00000520539.1	-	45	6966_6967	c.6360_6361insA	c.(6358-6363)aaaaggfs	p.R2121fs	UBR5_ENST00000521922.1_Frame_Shift_Ins_p.R2115fs|UBR5_ENST00000220959.4_Frame_Shift_Ins_p.R2121fs	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2121					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	p.E2121fs*28(2)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCTTCCCCTTCTTTTTTTTGCC	0.381													8	824	---	---	---	---					
FOXD4	2298	broad.mit.edu	37	9	117406	117407	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:117406_117407insG	ENST00000382500.2	-	1	1010_1011	c.713_714insC	c.(712-714)cccfs	p.P238fs		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	238	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGGCTGCGGCGGGGCAGGGGC	0.743													9	384	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21974679	21974679	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:21974679delG	ENST00000304494.5	-	1	418	c.148delC	c.(148-150)agfs	p.Q50fs	CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.Q50fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.Q50fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.Q50fs|CDKN2A_ENST00000494262.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	50			Q -> R (in CMM2).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(25)|p.Q50*(4)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CTACCCACCTGGATCGGCCTC	0.682		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			314	1020	---	---	---	---					
RP11-262H14.3	0	broad.mit.edu	37	9	66545695	66545695	+	RNA	DEL	A	A	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:66545695delA	ENST00000445604.2	-	0	669																											CTGTAAGAGGAAAAAAAAACA	0.373													7	14	---	---	---	---					
ECM2	1842	broad.mit.edu	37	9	95277146	95277148	+	In_Frame_Del	DEL	TCC	TCC	-	rs137929518	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr9:95277146_95277148delTCC	ENST00000344604.5	-	4	968_970	c.819_821delGGA	c.(817-822)gat>ga	p.ED273del	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_In_Frame_Del_p.ED251del	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	273	Poly-Glu.				cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						ctcctcctcatcctcctcctcct	0.606													9	1000	---	---	---	---					
RP11-324H6.5	0	broad.mit.edu	37	10	51826259	51826259	+	RNA	DEL	A	A	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr10:51826259delA	ENST00000456967.1	-	0	1278					NR_038275.1																						TAACAAAAGCAAAAAAAAAAA	0.333													3	5	---	---	---	---					
ABCC2	1244	broad.mit.edu	37	10	101559000	101559000	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr10:101559000delA	ENST00000370449.4	+	8	1017	c.904delA	c.(904-906)aafs	p.K303fs		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	303						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GTCTGGGACCAAAAAAGATGT	0.403													7	1738	---	---	---	---					
TSPAN4	0	broad.mit.edu	37	11	864443	864445	+	In_Frame_Del	DEL	CTG	CTG	-	rs61867552	byFrequency	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:864443_864445delCTG	ENST00000397404.1	+	5	521_523	c.262_264delCTG	c.(262-264)del	p.L92del	TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	92					protein complex assembly	integral to plasma membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGTTCTTCCTGCTGCTGCTGC	0.650													11	818	---	---	---	---					
APBB1	322	broad.mit.edu	37	11	6432090	6432092	+	In_Frame_Del	DEL	TCC	TCC	-	rs145320037		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:6432090_6432092delTCC	ENST00000389906.2	-	2	585_587	c.486_488delGGA	c.(484-489)gat>ga	p.ED162del	APBB1_ENST00000299402.6_In_Frame_Del_p.ED162del|APBB1_ENST00000311051.3_In_Frame_Del_p.ED162del|APBB1_ENST00000533407.1_Intron	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	162	Glu-rich.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	p.E162D(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		atcatcatcatcctcctcctcct	0.635													8	345	---	---	---	---					
RRP8	23378	broad.mit.edu	37	11	6623336	6623338	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:6623336_6623338delTCC	ENST00000254605.6	-	2	324_326	c.207_209delGGA	c.(205-210)gaa>ga	p.EE69del	RRP8_ENST00000534343.1_Intron	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	69	Poly-Glu.				chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						CTTCTTCCTTTCCTCCTCCTCCT	0.532													7	525	---	---	---	---					
SPON1	10418	broad.mit.edu	37	11	14252331	14252334	+	RNA	DEL	TTCA	TTCA	-	rs5789832		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:14252331_14252334delTTCA	ENST00000310358.7	+	0	1360							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		ccttccttccttcattttttcGTG	0.475													3	5	---	---	---	---					
AP5B1	91056	broad.mit.edu	37	11	65546346	65546356	+	Frame_Shift_Del	DEL	GCCAGCAAAGA	GCCAGCAAAGA	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:65546346_65546356delGCCAGCAAAGA	ENST00000532090.2	-	2	1818_1828	c.1608_1618delTCTTTGCTGGC	c.(1606-1620)gcacfs	p.ALCWH536fs		NM_138368.4	NP_612377.4	Q2VPB7	YK046_HUMAN	adaptor-related protein complex 5, beta 1 subunit	479							protein binding			lung(1)	1						ATTTGCAGGTGCCAGCAAAGAGCTTCATCCC	0.597													10	139	---	---	---	---					
UVRAG	7405	broad.mit.edu	37	11	75694431	75694431	+	Splice_Site	DEL	A	A	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr11:75694431delA	ENST00000356136.3	+	8	941	c.699_splice	c.e8-1	p.K236_splice	UVRAG_ENST00000531818.1_5'UTR|UVRAG_ENST00000532130.1_5'UTR|UVRAG_ENST00000533454.1_5'UTR|UVRAG_ENST00000528420.1_Splice_Site_p.K135_splice	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	236					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						ATTTATTTAGAAAAAAAAAAG	0.303													7	198	---	---	---	---					
RP11-377D9.3	0	broad.mit.edu	37	12	13174142	13174150	+	RNA	DEL	AACAACAAC	AACAACAAC	-	rs113537246		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:13174142_13174150delAACAACAAC	ENST00000543321.1	+	0	1025																											ctgtctcaaaaacaacaacaacaacaaca	0.560													8	45	---	---	---	---					
SCAF11	9169	broad.mit.edu	37	12	46318575	46318577	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:46318575_46318577delGGT	ENST00000465950.1	-	2	4104_4106	c.2895_2897delACC	c.(2893-2898)ccc>cc	p.PP969del	SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del|SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del|SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1284	Arg-rich.				spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TGGGGGAGGGGGTGGTGGTGGTG	0.483													9	724	---	---	---	---					
MYO1A	4640	broad.mit.edu	37	12	57422572	57422573	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:57422572_57422573insT	ENST00000442789.2	-	29	3385_3386	c.3098_3099insA	c.(3097-3099)aggfs	p.R1033fs	TAC3_ENST00000415231.1_5'UTR|MYO1A_ENST00000300119.3_Frame_Shift_Ins_p.R1033fs|MYO1A_ENST00000544473.1_Frame_Shift_Ins_p.R871fs	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	1033					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.?(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AATGACTCCCCTTTTTTTTGTA	0.559													11	700	---	---	---	---					
ZFC3H1	196441	broad.mit.edu	37	12	72057256	72057258	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:72057256_72057258delGCT	ENST00000378743.3	-	1	491_493	c.133_135delAGC	c.(133-135)del	p.S45del	ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del|ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del|THAP2_ENST00000308086.2_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	45	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCCGCCGCCGCTGCTGCTGCTG	0.631											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	1521	---	---	---	---					
VPS37B	79720	broad.mit.edu	37	12	123351892	123351892	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr12:123351892delG	ENST00000267202.2	-	4	1010	c.629delC	c.(628-630)cafs	p.P213fs		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	213	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane		p.P211fs*>76(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		CGGGGGTGGTGGGGGGGGGAT	0.716													9	172	---	---	---	---					
PABPC3	5042	broad.mit.edu	37	13	25671804	25671806	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr13:25671804_25671806delGCT	ENST00000281589.3	+	1	1505_1507	c.1468_1470delGCT	c.(1468-1470)del	p.A496del		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	496					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		ACGTCctgcagctgctgctgctg	0.532													12	406	---	---	---	---					
ARHGAP5	394	broad.mit.edu	37	14	32562696	32562696	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr14:32562696delA	ENST00000345122.3	+	2	3136	c.2821delA	c.(2821-2823)aafs	p.K942fs	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Frame_Shift_Del_p.K942fs|ARHGAP5_ENST00000432921.1_Frame_Shift_Del_p.K942fs|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Frame_Shift_Del_p.K942fs	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	942					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.N943fs*2(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TGTTCTAGAGAAAAAAAATAT	0.343													7	542	---	---	---	---					
KTN1-AS1	0	broad.mit.edu	37	14	56017469	56017470	+	RNA	DEL	AC	AC	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr14:56017469_56017470delAC	ENST00000554558.1	-	0	364																											cttgtctcaaacacacacacac	0.450													2	4	---	---	---	---					
DDX24	57062	broad.mit.edu	37	14	94545821	94545823	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr14:94545821_94545823delCCT	ENST00000330836.5	-	2	397_399	c.266_268delAGG	c.(265-270)gga>g	p.EG89del	DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del|DDX24_ENST00000544005.1_Intron	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	89	Poly-Glu.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CTAGACTTTCCCTCCTCCTCCTC	0.443													7	1037	---	---	---	---					
HERC2	8924	broad.mit.edu	37	15	28515875	28515876	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr15:28515875_28515876insTC	ENST00000261609.7	-	10	1330_1331	c.1222_1223insGA	c.(1222-1224)gccfs	p.A408fs		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	408					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)		CAGCGGAGGCATACAGGGCGTA	0.515													16	438	---	---	---	---					
RP11-382A20.4	0	broad.mit.edu	37	15	84063040	84063041	+	RNA	INS	-	-	AGGG	rs71464540		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr15:84063040_84063041insAGGG	ENST00000565495.1	+	0	264																											gggagggagggaggaaggatgg	0.554													7	20	---	---	---	---					
CTD-2643K12.3	0	broad.mit.edu	37	15	94521852	94521853	+	RNA	INS	-	-	CTTT	rs149780112	by1000genomes	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr15:94521852_94521853insCTTT	ENST00000558874.1	-	0	1354																											tttcttccttcctttctttctt	0.327													7	22	---	---	---	---					
RP11-420N3.2	0	broad.mit.edu	37	16	5313079	5313080	+	RNA	INS	-	-	GGG			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr16:5313079_5313080insGGG	ENST00000569895.1	+	0	304																											gtgacggtggtggtggtggtgg	0.475													7	272	---	---	---	---					
RP11-1166P10.6	0	broad.mit.edu	37	16	32024444	32024445	+	RNA	DEL	CA	CA	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr16:32024444_32024445delCA	ENST00000566806.1	-	0	621																											agtccatctccacacacacaca	0.460													3	3	---	---	---	---					
EDC4	23644	broad.mit.edu	37	16	67913786	67913788	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr16:67913786_67913788delAGC	ENST00000358933.5	+	16	2094_2096	c.1855_1857delAGC	c.(1855-1857)del	p.S629del		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	629	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		cagcagcggtagcagcagcagca	0.616													8	461	---	---	---	---					
CDH3	1001	broad.mit.edu	37	16	68718504	68718504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr16:68718504delA	ENST00000264012.4	+	10	1745	c.1201delA	c.(1201-1203)aafs	p.K401fs	CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs|CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	401	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTTTGAGGCCAAAAACCAGCA	0.522													7	2407	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578464	7578476	+	Frame_Shift_Del	DEL	GGGTGCCGGGCGG	GGGTGCCGGGCGG	-	rs72661116		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:7578464_7578476delGGGTGCCGGGCGG	ENST00000420246.2	-	5	586_598	c.454_466delCCGCCCGGCACCC	c.(454-468)gcfs	p.PPGTR152fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.PPGTR152fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.PPGTR152fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.PPGTR152fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.PPGTR152fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.PPGTR152fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	152	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P152L(66)|p.G154V(46)|p.T155N(22)|p.P152S(22)|p.T155P(17)|p.T155I(14)|p.G154G(12)|p.R156fs*14(10)|p.T155A(10)|p.P153fs*28(10)|p.G154S(9)|p.P152R(8)|p.0?(8)|p.P153S(8)|p.P152T(7)|p.P152fs*18(7)|p.P153P(7)|p.G154D(6)|p.T150fs*16(6)|p.P153L(6)|p.P152fs*29(5)|p.T155T(5)|p.P152P(5)|p.P152fs*14(5)|p.?(5)|p.G154C(4)|p.P152Q(4)|p.G61V(3)|p.R156S(3)|p.R156fs*25(3)|p.R156G(3)|p.G154I(3)|p.T155_R156insDSTPPPGT(3)|p.G22V(3)|p.P153T(3)|p.G154fs*27(3)|p.T155fs*23(2)|p.R156C(2)|p.G154fs*16(2)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.P152A(2)|p.T155S(2)|p.P20L(2)|p.P59L(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.T23_R24insDSTPPPGT(1)|p.R156_V157del(1)|p.P152fs*27(1)|p.G154_R156delGTR(1)|p.P152fs*28(1)|p.T155fs*26(1)|p.T155fs*25(1)|p.T155_A161delTRVRAMA(1)|p.G61C(1)|p.Q144_G154del11(1)|p.D148_T155delDSTPPPGT(1)|p.R156_A161delRVRAMA(1)|p.R156del(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.T57fs*16(1)|p.T150_P153delTPPP(1)|p.T62P(1)|p.G154A(1)|p.P152del(1)|p.T62A(1)|p.S149fs*72(1)|p.T62N(1)|p.T62I(1)|p.Q144fs*16(1)|p.P153_G154insX(1)|p.P152_P153del(1)|p.R156_R158delRVR(1)|p.P20R(1)|p.T23P(1)|p.T23A(1)|p.T23N(1)|p.S149fs*17(1)|p.T23I(1)|p.P152_P153insXXX(1)|p.T155_R156delTR(1)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P59R(1)|p.G22C(1)|p.R156_A161del(1)|p.P153fs*20(1)|p.D148fs*23(1)|p.T62_R63insDSTPPPGT(1)|p.G154fs*22(1)|p.P153F(1)|p.T18fs*16(1)|p.P153A(1)|p.P153H(1)|p.T155fs*15(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAA	0.606		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			50	351	---	---	---	---					
DNAH2	146754	broad.mit.edu	37	17	7707727	7707728	+	In_Frame_Ins	INS	-	-	GAG			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:7707727_7707728insGAG	ENST00000572933.1	+	59	10586_10587	c.9126_9127insGAG	c.(9124-9129)tgagga>tgGAGagga	p.3042_3042*>WR	DNAH2_ENST00000389173.2_In_Frame_Ins_p.3042_3042*>WR			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3042	Stalk (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)				AGAAGCAGTGTGAGGAGTACCT	0.579													59	239	---	---	---	---					
RP11-178C3.2	0	broad.mit.edu	37	17	58050857	58050857	+	RNA	DEL	G	G	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:58050857delG	ENST00000586209.1	+	0	158																											TTTTTTTTTTGGCAGTTTTTA	0.423													7	97	---	---	---	---					
CBX8	57332	broad.mit.edu	37	17	77769890	77769890	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr17:77769890delT	ENST00000269385.4	-	4	329	c.212delA	c.(211-213)agfs	p.K71fs	CBX8_ENST00000485449.1_5'UTR	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	71					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGGTCCACGCTTTTTGGGGCC	0.512													7	1661	---	---	---	---					
RP11-638L3.1	0	broad.mit.edu	37	18	65330493	65330496	+	RNA	DEL	TCTT	TCTT	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr18:65330493_65330496delTCTT	ENST00000583687.1	+	0	204					NR_033921.1																						ccttccttcctctttctttctcct	0.480													8	4	---	---	---	---					
ZSWIM4	65249	broad.mit.edu	37	19	13941586	13941587	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:13941586_13941587insC	ENST00000254323.2	+	13	2881_2882	c.2692_2693insC	c.(2692-2694)acgfs	p.T898fs	ZSWIM4_ENST00000440752.2_Frame_Shift_Ins_p.T732fs	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	898							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CCCCTTAGGGGCACGCCGGGCC	0.693													13	615	---	---	---	---					
LSM14A	26065	broad.mit.edu	37	19	34710340	34710340	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:34710340delC	ENST00000544216.3	+	7	903	c.826delC	c.(826-828)ggfs	p.R276fs	LSM14A_ENST00000433627.5_Frame_Shift_Del_p.R276fs|LSM14A_ENST00000540746.2_Frame_Shift_Del_p.R235fs	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	276					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					TGGGGGTCATCGGGGTGGCAG	0.438													7	1118	---	---	---	---					
C19orf55	148137	broad.mit.edu	37	19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atc>at	p.IS213del	C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del			Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	213	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGCCTCCATCTCCTCCTCCTCC	0.631													10	1778	---	---	---	---					
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr19:38882864_38882866delCCT	ENST00000587013.1	+	3	569_571	c.491_493delCCT	c.(490-495)ccc>c	p.PS164del	SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del|SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del			Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	120					multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645													16	186	---	---	---	---					
SNAP25-AS1	0	broad.mit.edu	37	20	10009879	10009880	+	RNA	INS	-	-	GG	rs61333141	by1000genomes	TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr20:10009879_10009880insGG	ENST00000603542.1	-	0	747				SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000438646.1_RNA	NR_040710.1																						agagagagagagagagaAgaag	0.441													10	1	---	---	---	---					
FRG1B	0	broad.mit.edu	37	20	29628310	29628312	+	In_Frame_Del	DEL	AGG	AGG	-	rs111939959		TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr20:29628310_29628312delAGG	ENST00000278882.3	+	6	692_694	c.312_314delAGG	c.(310-315)gca>gc	p.AG104del	FRG1B_ENST00000439954.2_In_Frame_Del_p.AG109del|FRG1B_ENST00000358464.4_In_Frame_Del_p.AG104del																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTAAAACAGCAGGAGAAGAAGAA	0.355													12	410	---	---	---	---					
RP5-1043L13.1	0	broad.mit.edu	37	20	58889825	58889826	+	RNA	INS	-	-	CCAT			TCGA-FZ-5920-01A-11D-1609-08	TCGA-FZ-5920-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4dc2a8c-3f26-4460-97fa-4cee0294a823	e2c6f1e8-99b9-4078-afa3-8eea48b96972	g.chr20:58889825_58889826insCCAT	ENST00000432910.1	+	0	332					NR_046099.1																						catccatcctcccatcctccca	0.569													9	80	---	---	---	---					
