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
BC080605	0	broad.mit.edu	37	9	68414581	68414581	+	RNA	SNP	T	T	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr9:68414581T>A	uc004aex.3	+	0		c.1136T>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		tactgaatattttaatcccac	0.353000													3	14					0	0	1	0	0
OR1I1	126370	broad.mit.edu	37	19	15198440	15198440	+	Silent	SNP	C	C	T	rs147792989	byFrequency	TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:15198440C>T	uc010xoe.2	+	0	564	c.564C>T	c.(562-564)tcC>tcT	p.S188S		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily I, member 1 (OR1I1), mRNA.	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S188S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						TGAAGCTCTCCGGCTCAGACA	0.547000													50	36					0	0	1	0	0
MZF1	7593	broad.mit.edu	37	19	59074376	59074376	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:59074376C>A	uc002qto.3	-	5	1829	c.1268G>T	c.(1267-1269)cGc>cTc	p.R423L	LOC100131691_uc002qtm.3_Intron|MZF1_uc002qtn.3_Missense_Mutation_p.R423L	NM_198055	NP_932172	P28698	MZF1_HUMAN	Homo sapiens myeloid zinc finger 1 (MZF1), transcript variant 2, mRNA.	423					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GCGCGCGCTGCGCACGAAGCC	0.687000													18	48					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596359	24596359	+	Silent	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr6:24596359C>T	uc011djo.2	-	2	1043	c.543G>A	c.(541-543)gaG>gaA	p.E181E	KIAA0319_uc011djp.2_Silent_p.E136E|KIAA0319_uc003neh.1_Silent_p.E181E|KIAA0319_uc011djq.1_Silent_p.E172E|KIAA0319_uc011djr.1_Silent_p.E181E	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	181					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AGTCCGTGTACTCGGCACTCC	0.637000													31	31					0	0	1	0	0
RASL10B	91608	broad.mit.edu	37	17	34062267	34062267	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:34062267C>T	uc002hju.3	+	1	430	c.64C>T	c.(64-66)Cgc>Tgc	p.R22C		NM_033315	NP_201572	Q96S79	RSLAB_HUMAN	Homo sapiens RAS-like, family 10, member B (RASL10B), mRNA.	22	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCCATCGTGCGCCAGTTCTT	0.672000													31	42					0	0	1	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40698	40698	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chrGL000218.1:40698G>A	uc011mfn.2	-	2	321	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	LOC100233156_uc003jah.2_Missense_Mutation_p.R78C					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		TCACAGCGGCGCCCGAAGGCC	0.672000													3	12					0	0	1	0	0
AK097910	0	broad.mit.edu	37	7	130008585	130008585	+	RNA	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr7:130008585G>A	uc003vpv.1	-	1		c.732C>T								Homo sapiens cDNA FLJ40591 fis, clone THYMU2010161.																		GCTGCCTCTCGTGTTGGCTAC	0.557000													7	4					0	0	1	0	0
OR2M1P	388762	broad.mit.edu	37	1	248285937	248285937	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:248285937G>A	uc001idy.1	+	0	500	c.500G>A	c.(499-501)cGc>cAc	p.R167H						Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																		GAGGGTCGTCGCAAAGCTTTC	0.478000													95	182					0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173830397	173830397	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr2:173830397G>T	uc002uhv.4	+	8	993	c.806G>T	c.(805-807)gGt>gTt	p.G269V	RAPGEF4_uc002uhu.2_Missense_Mutation_p.G269V|RAPGEF4_uc002uhw.4_Missense_Mutation_p.G125V|RAPGEF4_uc010zec.1_Missense_Mutation_p.G116V|RAPGEF4_uc010zed.1_Missense_Mutation_p.G98V|RAPGEF4_uc010zee.1_Missense_Mutation_p.G116V|RAPGEF4_uc010fqo.2_Missense_Mutation_p.G98V|RAPGEF4_uc010zef.1_Missense_Mutation_p.G49V|RAPGEF4_uc010zeg.1_Missense_Mutation_p.G96V|RAPGEF4_uc010fqp.1_Missense_Mutation_p.G49V|RAPGEF4_uc010zeh.1_Missense_Mutation_p.G49V	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	269	DEP.				G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TTAGAAGATGGTGTTCTCAAC	0.502000													4	85					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952084	178952084	+	Missense_Mutation	SNP	C	C	T	rs121913281		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr3:178952084C>T	uc003fjk.3	+	20	3296	c.3139C>T	c.(3139-3141)Cat>Tat	p.H1047Y		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1783)|p.H1047L(215)|p.H1047Y(83)|p.A1046T(6)|p.H1047Q(3)|p.A1046V(2)|p.A1046E(2)|p.A1046A(1)|p.H1047P(1)|p.H1047T(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAATGATGCACATCATGGTGG	0.373000	H1047Y(MFE280_ENDOMETRIUM)|H1047Y(TOV21G_OVARY)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			36	40					0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101648744	101648744	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr2:101648744T>C	uc010fiv.3	-	10	2008	c.1877A>G	c.(1876-1878)aAc>aGc	p.N626S	TBC1D8_uc002tau.4_Missense_Mutation_p.N383S	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	626	Rab-GAP TBC.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	Rab GTPase activator activity|calcium ion binding	p.W626*(1)		breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CACTCGGTGGTTGAAGTAATC	0.532000													28	44					0	0	1	0	0
TTC27	55622	broad.mit.edu	37	2	32983377	32983377	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr2:32983377C>T	uc002rom.3	+	12	1744	c.1471C>T	c.(1471-1473)Caa>Taa	p.Q491*	TTC27_uc010ymx.2_Nonsense_Mutation_p.Q441*	NM_017735	NP_001180438	Q6P3X3	TTC27_HUMAN	Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA.	491							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						AATCCTTAGACAAGAGCTGGA	0.383000													4	87					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414262	68414262	+	RNA	SNP	A	A	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr9:68414262A>T	uc004aex.3	+	0		c.817A>T								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		cagtggcctcaaagaactcaa	0.478000													5	32					0	0	1	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40869	40869	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chrGL000218.1:40869G>A	uc011mfn.2	-	2	150	c.61C>T	c.(61-63)Cgc>Tgc	p.R21C	LOC100233156_uc003jah.2_Missense_Mutation_p.R21C					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		GAGGCGCTGCGGGGCTGGGGA	0.682000													3	11					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11170774	11170774	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:11170774C>T	uc010dxp.3	+	34	5182	c.4822C>T	c.(4822-4824)Cgg>Tgg	p.R1608W	SMARCA4_uc010dxo.3_Missense_Mutation_p.R1640W|SMARCA4_uc002mqf.4_Missense_Mutation_p.R1608W|SMARCA4_uc010dxq.3_Missense_Mutation_p.R1575W|SMARCA4_uc010dxr.3_Missense_Mutation_p.R1574W|SMARCA4_uc002mqj.4_Missense_Mutation_p.R1578W|SMARCA4_uc010dxs.3_Missense_Mutation_p.R1577W|SMARCA4_uc002mqh.4_Missense_Mutation_p.R698W	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1608					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGCACAGGACCGGCTGAAGGG	0.652000			"""F, N, Mis"""		NSCLC								3	7					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72057258	72057258	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr12:72057258T>C	uc001swo.2	-	0	492	c.133A>G	c.(133-135)Agc>Ggc	p.S45G	ZFC3H1_uc010sts.2_Missense_Mutation_p.S45G|ZFC3H1_uc001swp.3_Missense_Mutation_p.S45G|THAP2_uc001swq.3_5'Flank	NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	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						CCGCCGCCGCTGCTGCTGCTG	0.637000											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	145					0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22664743	22664743	+	RNA	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr22:22664743G>A	uc021wml.1	+	32		c.2843G>A			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		CAGACTAAAGGCAAACAAGGA	0.498000													5	115					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112686937	112686937	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr2:112686937G>T	uc002thk.1	+	1	424	c.302G>T	c.(301-303)gGa>gTa	p.G101V	MERTK_uc002thl.1_Intron|Metazoa_SRP_uc021vmv.1_5'Flank	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	101	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.G101V(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CACACAGTTGGACACATAATA	0.448000													26	51					0	0	1	0	0
HSPA6	3310	broad.mit.edu	37	1	161495873	161495873	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:161495873G>C	uc001gaq.3	+	0	1838	c.1425G>C	c.(1423-1425)caG>caC	p.Q475H	TRNA_Gly_uc021pdc.1_5'Flank	NM_002155	NP_002146	P17066	HSP76_HUMAN	Homo sapiens heat shock 70kDa protein 6 (HSP70B') (HSPA6), mRNA.	475					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GAGTCCCCCAGATAGAGGTGA	0.537000													16	50					0	0	1	0	0
IP6K1	9807	broad.mit.edu	37	3	49764567	49764567	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr3:49764567G>C	uc021wyl.1	-	5	1967	c.1314C>G	c.(1312-1314)gaC>gaG	p.D438E	IP6K1_uc003cxm.1_Missense_Mutation_p.D438E|IP6K1_uc003cxn.1_Missense_Mutation_p.D273E	NM_001242829	NP_001229758	Q92551	IP6K1_HUMAN	Homo sapiens inositol hexakisphosphate kinase 1 (IP6K1), transcript variant 3, mRNA.	438					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	p.D438D(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						ACTGGTTCTCGTCCCGCATCT	0.587000													31	28					0	0	1	0	0
ARFRP1	10139	broad.mit.edu	37	20	62331872	62331872	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr20:62331872G>A	uc002ygf.3	-	7	672	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	ARFRP1_uc002yga.3_Missense_Mutation_p.R177C|ARFRP1_uc011abf.2_3'UTR|ARFRP1_uc002ygh.4_3'UTR|ARFRP1_uc002ygc.3_Missense_Mutation_p.R177C|ARFRP1_uc011abg.2_3'UTR|ARFRP1_uc011abh.2_Non-coding_Transcript	NM_003224	NP_003215	Q13795	ARFRP_HUMAN	Homo sapiens ADP-ribosylation factor related protein 1 (ARFRP1), transcript variant 1, mRNA.	177					small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity	p.R177H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			ATGCCCTCGCGCACCCCTTTG	0.697000													12	184					0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2540796	2540796	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:2540796G>A	uc001ajy.2	-	5	731	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	173					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		ATGCAGGAGCGGTACAGCGTC	0.687000													9	12					0	0	1	0	0
POU2F1	5451	broad.mit.edu	37	1	167381351	167381351	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:167381351A>C	uc001gec.3	+	14	1881	c.1642A>C	c.(1642-1644)Acc>Ccc	p.T548P	POU2F1_uc001gee.3_Missense_Mutation_p.T571P|POU2F1_uc010plh.2_Missense_Mutation_p.T508P|POU2F1_uc001ged.3_Missense_Mutation_p.T546P|POU2F1_uc001gef.3_Missense_Mutation_p.T560P|POU2F1_uc001geg.3_Missense_Mutation_p.T446P|POU2F1_uc009wvg.1_Non-coding_Transcript	NM_001198783	NP_001185712	P14859	PO2F1_HUMAN	Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 2, mRNA.	548					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CACAACACAGACCACCTCCAC	0.602000													16	59					0	0	1	0	0
GTF3A	2971	broad.mit.edu	37	13	28009312	28009312	+	Nonsense_Mutation	SNP	A	A	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr13:28009312A>T	uc001ure.2	+	7	1110	c.916A>T	c.(916-918)Aag>Tag	p.K306*	GTF3A_uc001urf.2_Nonsense_Mutation_p.K124*|GTF3A_uc001urg.2_Non-coding_Transcript	NM_002097	NP_002088	Q92664	TF3A_HUMAN	Homo sapiens general transcription factor IIIA (GTF3A), mRNA.	306					rRNA transcription|regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|RNA binding|protein binding|zinc ion binding			breast(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158)		TCCTGACAAGAAGAAAATGAA	0.338000													29	24					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414292	68414292	+	RNA	SNP	G	G	A	rs142049020		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr9:68414292G>A	uc004aex.3	+	0		c.847G>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		agacttgcaagtctctcactt	0.438000													4	42					0	0	1	0	0
CD80	941	broad.mit.edu	37	3	119276562	119276562	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr3:119276562C>T	uc003ecq.3	-	1	409	c.14G>A	c.(13-15)cGg>cAg	p.R5Q	CD80_uc010hqt.1_Missense_Mutation_p.R5Q|CD80_uc010hqu.1_Missense_Mutation_p.R5Q|CD80_uc003ecr.1_Missense_Mutation_p.R5Q	NM_005191	NP_005182	P33681	CD80_HUMAN	Homo sapiens CD80 molecule (CD80), mRNA.	5					T cell costimulation|interspecies interaction between organisms|intracellular signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of transcription, DNA-dependent	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	TCCCTGCCTCCGTGTGTGGCC	0.498000													9	17					0	0	1	0	0
DHRS7C	201140	broad.mit.edu	37	17	9676126	9676126	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:9676126C>T	uc010vvb.2	-	4	701	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	DHRS7C_uc010cof.3_Missense_Mutation_p.V229M	NM_001220493	NP_001207422	A6NNS2	DRS7C_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7C (DHRS7C), transcript variant 1, mRNA.	230						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TCTGGATACACGTGGTACGAC	0.582000													32	7					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24566850	24566850	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr6:24566850C>A	uc011djo.2	-	13	2767	c.2267G>T	c.(2266-2268)cGg>cTg	p.R756L	KIAA0319_uc011djp.2_Missense_Mutation_p.R711L|KIAA0319_uc003neh.1_Missense_Mutation_p.R756L|KIAA0319_uc011djq.1_Missense_Mutation_p.R747L|KIAA0319_uc011djr.1_Missense_Mutation_p.R756L|KIAA0319_uc010jpt.1_Missense_Mutation_p.R167L	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	756	PKD 5.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	p.I755I(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTGGCCATCCCGGATCCACAG	0.463000													10	78					0	0	1	0	0
MED4	29079	broad.mit.edu	37	13	48654103	48654103	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr13:48654103G>A	uc001vby.1	-	5	543	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	MED4_uc010tgf.1_Missense_Mutation_p.R127W	NM_014166	NP_054885	Q9NPJ6	MED4_HUMAN	Homo sapiens mediator complex subunit 4 (MED4), mRNA.	173					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		TAGGGTCTCCGGGGGTCCCCT	0.393000													14	28					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152554983	152554983	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr6:152554983G>A	uc021zhb.1	-	109	20868	c.20645C>T	c.(20644-20646)tCg>tTg	p.S6882L	SYNE1_uc003qos.4_Missense_Mutation_p.S1406L|SYNE1_uc003qot.4_Missense_Mutation_p.S6811L|SYNE1_uc003qou.4_Missense_Mutation_p.S6882L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	6882					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCAATGCGCGACAGCTCAGA	0.512000										HNSCC(10;0.0054)			25	38					0	0	1	0	0
DHX58	79132	broad.mit.edu	37	17	40253875	40253875	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:40253875G>C	uc002hyw.3	-	13	2164	c.1941C>G	c.(1939-1941)atC>atG	p.I647M	DHX58_uc002hyv.3_Non-coding_Transcript	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	Homo sapiens DEXH (Asp-Glu-X-His) box polypeptide 58 (DHX58), mRNA.	647	RNA-binding.				innate immune response	cytoplasm	ATP binding|DNA binding|RNA binding|helicase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTTTGGCCTGGATCCGCCCCT	0.592000											OREG0024418	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	60					0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29879422	29879422	+	Silent	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr22:29879422G>A	uc003afo.3	+	1	1013	c.942G>A	c.(940-942)gcG>gcA	p.A314A		NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	314	Coil 2B.|Rod.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TGCGCTCAGCGCAGGAGGAGA	0.612000													49	152					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414259	68414259	+	RNA	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr9:68414259C>T	uc004aex.3	+	0		c.814C>T								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		ccacagtggcctcaaagaact	0.483000													7	30					0	0	1	0	0
MSRB3	253827	broad.mit.edu	37	12	65857094	65857094	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr12:65857094G>A	uc001ssn.3	+	5	697	c.571G>A	c.(571-573)Gag>Aag	p.E191K	MSRB3_uc009zqp.3_Missense_Mutation_p.E184K|MSRB3_uc001ssm.3_Missense_Mutation_p.E184K|MSRB3_uc021qzy.1_Missense_Mutation_p.E184K	NM_198080	NP_932346	Q8IXL7	MSRB3_HUMAN	Homo sapiens methionine sulfoxide reductase B3 (MSRB3), transcript variant 1, mRNA.	191					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		AGACAAAGCGGAGCTCTAGAG	0.448000													18	31					0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66082813	66082813	+	Silent	SNP	A	A	G			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr11:66082813A>G	uc001ohm.1	-	0	1703	c.1686T>C	c.(1684-1686)ggT>ggC	p.G562G		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	562	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GTAGCTGGGCACCGAGGGTGG	0.622000													47	54					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414885	68414885	+	RNA	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr9:68414885C>T	uc004aex.3	+	0		c.1440C>T								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		gccgagaccgcaccactgtac	0.418000													3	8					0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179195869	179195869	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr5:179195869G>A	uc003mkm.3	+	2	2013	c.1750G>A	c.(1750-1752)Gtc>Atc	p.V584I	MAML1_uc003mkn.1_Missense_Mutation_p.V584I	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	584					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTTCCAGTGTCCCTGTGCA	0.562000													67	149					0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269569	150269569	+	Silent	SNP	C	C	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr7:150269569C>A	uc003whl.3	+	2	493	c.411C>A	c.(409-411)atC>atA	p.I137I	GIMAP4_uc011kuu.2_5'UTR|GIMAP4_uc011kuv.2_Silent_p.I151I	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	137							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGAGAAGATCCTGAAAATGT	0.483000													17	45					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14741318	14741318	+	Silent	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr7:14741318G>A	uc003ssz.3	-	5	691	c.504C>T	c.(502-504)ttC>ttT	p.F168F	DGKB_uc011jxt.2_Silent_p.F161F|DGKB_uc003sta.3_Silent_p.F168F|DGKB_uc011jxu.2_Silent_p.F168F|DGKB_uc011jxv.1_Silent_p.F168F	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	168	EF-hand 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	AGCTGTCCAGGAAGCCATTCC	0.328000													8	25					0	0	1	0	0
THAP9	79725	broad.mit.edu	37	4	83826061	83826061	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr4:83826061G>A	uc003hnt.2	+	1	372	c.253G>A	c.(253-255)Gtg>Atg	p.V85M	THAP9_uc003hns.1_5'UTR|THAP9_uc003hnu.1_Non-coding_Transcript|THAP9_uc003hnv.2_5'UTR	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	Homo sapiens THAP domain containing 9 (THAP9), mRNA.	85							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				AAAAGGAGCTGTGCCTTCTGT	0.363000													8	17					0	0	1	0	0
MZF1	7593	broad.mit.edu	37	19	59074528	59074528	+	Silent	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:59074528C>T	uc002qto.3	-	5	1677	c.1116G>A	c.(1114-1116)ctG>ctA	p.L372L	LOC100131691_uc002qtm.3_Intron|MZF1_uc002qtn.3_Silent_p.L372L	NM_198055	NP_932172	P28698	MZF1_HUMAN	Homo sapiens myeloid zinc finger 1 (MZF1), transcript variant 2, mRNA.	372					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		TCTGGTGCCTCAGCAGGTTGC	0.687000													22	43					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37881332	37881332	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:37881332G>A	uc002hso.3	+	20	2762	c.2524G>A	c.(2524-2526)Gta>Ata	p.V842I	ERBB2_uc010cwa.3_Missense_Mutation_p.V827I|ERBB2_uc002hsm.3_Missense_Mutation_p.V812I|ERBB2_uc002hsp.3_Missense_Mutation_p.V645I|ERBB2_uc010cwb.3_Missense_Mutation_p.V842I|ERBB2_uc010wek.2_Missense_Mutation_p.V566I|MIR4728_uc021twt.1_5'Flank	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	842	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V842I(12)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TGTGCGGCTCGTACACAGGGA	0.597000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			43	57					0	0	1	0	0
C22orf28	51493	broad.mit.edu	37	22	32784075	32784075	+	Silent	SNP	G	G	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr22:32784075G>T	uc003amm.2	-	11	1553	c.1422C>A	c.(1420-1422)tcC>tcA	p.S474S		NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN	Homo sapiens chromosome 22 open reading frame 28 (C22orf28), mRNA.	474					cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|RNA ligase (ATP) activity|metal ion binding|vinculin binding			breast(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	21						CATTCTTATAGGACTCAGGAG	0.403000													3	18					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414366	68414366	+	RNA	SNP	G	G	A	rs34936942		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr9:68414366G>A	uc004aex.3	+	0		c.921G>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		ctagagagaagtcaacacttg	0.423000													7	18					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161530808	161530808	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr6:161530808G>T	uc003qtn.3	+	22	4400	c.4258G>T	c.(4258-4260)Gag>Tag	p.E1420*	MAP3K4_uc010kkc.1_Nonsense_Mutation_p.E1416*|MAP3K4_uc003qto.3_Nonsense_Mutation_p.E1370*|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Nonsense_Mutation_p.E873*|MAP3K4_uc003qtp.3_Nonsense_Mutation_p.E356*|MAP3K4_uc003qtq.3_Nonsense_Mutation_p.E109*	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	1420	Protein kinase.				JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CATCTTCATGGAGTACTGCGA	0.443000													35	33					0	0	1	0	0
CCL1	6346	broad.mit.edu	37	17	32687649	32687649	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:32687649C>T	uc002hid.1	-	2	292	c.220G>A	c.(220-222)Gcc>Acc	p.A74T		NM_002981	NP_002972	P22362	CCL1_HUMAN	Homo sapiens chemokine (C-C motif) ligand 1 (CCL1), mRNA.	74					cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		GTGTCCAAGGCGCAGGCCTCT	0.522000													56	89					0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17488843	17488843	+	Silent	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr22:17488843C>T	uc002zlw.3	-	0	270	c.162G>A	c.(160-162)aaG>aaA	p.K54K	GAB4_uc010gqs.1_Silent_p.K54K	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	54	PH.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				AGAGCCTCAGCTTCTTCTCGG	0.697000													8	13					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153251907	153251907	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr4:153251907G>A	uc003ims.3	-	6	1261	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	FBXW7_uc011cii.2_Nonsense_Mutation_p.R367*|FBXW7_uc003imt.3_Nonsense_Mutation_p.R367*|FBXW7_uc011cih.2_Nonsense_Mutation_p.R191*|FBXW7_uc003imq.3_Nonsense_Mutation_p.R287*|FBXW7_uc003imr.3_Nonsense_Mutation_p.R249*	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	367					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.R367*(17)|p.R287*(3)|p.R128*(3)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTTCTCCTCGCCTCCAGTTA	0.388000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								17	33					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:7578406C>T	uc002gim.2	-	4	718	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.3_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.2_Missense_Mutation_p.R136H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(1654)|p.R175L(38)|p.R43H(36)|p.R82H(36)|p.R175G(15)|p.R175C(15)|p.R175P(12)|p.R174W(10)|p.0?(8)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(4)|p.R174fs*73(4)|p.R174K(4)|p.R174fs*1(4)|p.R175fs*5(3)|p.V157_C176del20(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R174_C176delRRC(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174fs*70(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174M(2)|p.R174fs*3(2)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174G(1)|p.R81fs*24(1)|p.R174fs*7(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)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			38	7					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46329516	46329516	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:46329516G>A	uc002pdn.3	-	16	2542	c.2297C>T	c.(2296-2298)cCg>cTg	p.P766L	SYMPK_uc002pdo.1_Missense_Mutation_p.P766L|SYMPK_uc002pdp.1_Missense_Mutation_p.P766L	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	766					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CAGCACAGACGGTGGGTTGGG	0.572000													6	17					0	0	1	0	0
LMO3	55885	broad.mit.edu	37	12	16704161	16704161	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr12:16704161G>A	uc010shz.2	-	5	724	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	LMO3_uc001rdj.2_Missense_Mutation_p.R156C|LMO3_uc010shy.2_Missense_Mutation_p.R163C|LMO3_uc001rdk.2_Missense_Mutation_p.R145C|LMO3_uc001rdl.2_Missense_Mutation_p.R145C|LMO3_uc009zii.2_Non-coding_Transcript|LMO3_uc001rdn.2_Missense_Mutation_p.R145C|LMO3_uc001rdm.2_Missense_Mutation_p.R145C|LMO3_uc009zij.2_Non-coding_Transcript|LMO3_uc001rdo.2_Non-coding_Transcript|LMO3_uc001rdp.2_Non-coding_Transcript|LMO3_uc009zik.2_Non-coding_Transcript	NM_001243613	NP_001230542	Q8TAP4	LMO3_HUMAN	Homo sapiens LIM domain only 3 (rhombotin-like 2) (LMO3), transcript variant 7, mRNA.	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				ATAGATCAGCGAACCTGGGGT	0.378000													28	12					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7188289	7188289	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr3:7188289C>A	uc003bqm.2	+	1	944	c.670C>A	c.(670-672)Ctc>Atc	p.L224I	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.L224I|GRM7_uc003bql.2_Missense_Mutation_p.L224I	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	224					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TGTGTCTACCCTCGCATCGGA	0.522000													8	48					0	0	1	0	0
AK021933	0	broad.mit.edu	37	GL000195.1	31150	31150	+	RNA	SNP	C	C	G			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chrGL000195.1:31150C>G	uc003woi.3	-	0		c.831G>C								Homo sapiens cDNA FLJ11871 fis, clone HEMBA1007052.																		TGCAGAGCCTCGCCCCTTTCT	0.562000													7	10					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68413547	68413547	+	RNA	SNP	C	C	T	rs113624679		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr9:68413547C>T	uc004aex.3	+	0		c.102C>T								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		GGCTCTTCCACGTCCTTCAGC	0.602000													3	25					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94528265	94528265	+	Missense_Mutation	SNP	C	C	T	rs61749410		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:94528265C>T	uc001dqh.3	-	12	1909	c.1805G>A	c.(1804-1806)cGg>cAg	p.R602Q	ABCA4_uc010otn.1_Missense_Mutation_p.R602Q	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	602			R -> Q (in STGD1).|R -> W (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCAGATGTACCGGAAATCTTC	0.557000													23	25					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70607151	70607151	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chrX:70607151A>G	uc004dzu.4	+	14	2315	c.2264A>G	c.(2263-2265)cAt>cGt	p.H755R	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.H776R|TAF1_uc004dzv.4_5'Flank	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	755					G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ATTTATCTTCATAAGATGCCA	0.373000													67	13					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6506275	6506275	+	Splice_Site	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr10:6506275G>A	uc001iji.1	-	12	1628	c.1544_splice	c.e12+1	p.T515_splice	PRKCQ_uc001ijj.2_Splice_Site_p.T482_splice|PRKCQ_uc009xim.2_Splice_Site_p.T482_splice|PRKCQ_uc009xin.2_Splice_Site_p.T446_splice|PRKCQ_uc010qax.2_Splice_Site_p.T357_splice	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	482	Protein kinase.				T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						AGCCTCTTACGTCGCTCTGGA	0.458000													175	210					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48603954	48603954	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr3:48603954C>G	uc003ctz.2	-	111	8348	c.8347G>C	c.(8347-8349)Gct>Cct	p.A2783P	UCN2_uc003cty.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2783	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.A2783D(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTCAGTGCAGCTTCTCCCTTC	0.672000													7	106					0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71743757	71743757	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr7:71743757A>G	uc003twb.4	-	2	549	c.158T>C	c.(157-159)tTg>tCg	p.L53S	CALN1_uc003twa.4_Missense_Mutation_p.L11S|CALN1_uc003twc.4_Missense_Mutation_p.L11S	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	11	EF-hand 1.					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CCCCTTGTACAACAAGCCGGC	0.522000													12	27					0	0	1	0	0
FAM169A	26049	broad.mit.edu	37	5	74137476	74137476	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr5:74137476T>C	uc003kdm.3	-	1	69	c.26A>G	c.(25-27)gAa>gGa	p.E9G	FAM169A_uc010izm.3_Missense_Mutation_p.E9G|FAM169A_uc003kdl.3_5'UTR	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN	Homo sapiens family with sequence similarity 169, member A (FAM169A), mRNA.	9										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						GCTGCAATTTTCCAGCATATC	0.378000													10	41					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37049341	37049341	+	Missense_Mutation	SNP	C	C	T	rs80358376		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr5:37049341C>T	uc003jkl.4	+	39	7391	c.6892C>T	c.(6892-6894)Cgc>Tgc	p.R2298C	NIPBL_uc003jkk.4_Missense_Mutation_p.R2298C|NIPBL_uc003jkn.3_5'Flank	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	2298			R -> C (in CDLS1).|R -> H (in CDLS1).		brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GTCAAGTGTACGCCACTTTGC	0.413000													21	135					0	0	1	0	0
VPS53	55275	broad.mit.edu	37	17	556625	556625	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:556625C>T	uc010cjo.2	-	6	661	c.514G>A	c.(514-516)Gga>Aga	p.G172R	VPS53_uc002frk.3_Intron|VPS53_uc002frl.2_Non-coding_Transcript|VPS53_uc002frm.2_Missense_Mutation_p.G143R|VPS53_uc002frn.2_Missense_Mutation_p.G172R|VPS53_uc002fro.2_5'UTR|VPS53_uc010cjp.1_Intron	NM_001128159	NP_001121631	Q5VIR6	VPS53_HUMAN	Homo sapiens vacuolar protein sorting 53 homolog (S. cerevisiae) (VPS53), transcript variant 1, mRNA.	172					protein transport	Golgi apparatus|endosome membrane				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GCAACTTCTCCGTATTGTCTT	0.458000													21	26					0	0	1	0	0
LRRC4	64101	broad.mit.edu	37	7	127670549	127670549	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr7:127670549C>G	uc003vmk.3	-	1	282	c.145G>C	c.(145-147)Gtc>Ctc	p.V49L	SND1_uc003vmi.3_Intron|SND1_uc010lle.3_Intron|LRRC4_uc022akv.1_Missense_Mutation_p.V49L	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	Homo sapiens leucine rich repeat containing 4 (LRRC4), mRNA.	49	LRRNT.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CACGAGCAGACGGAGGGGCAG	0.647000													5	126					0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128757879	128757879	+	Splice_Site	SNP	A	A	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr2:128757879A>C	uc010fmd.2	-	8	1227	c.1095_splice	c.e8+1	p.Q365_splice	SAP130_uc002tpn.2_Splice_Site_p.Q126_splice|SAP130_uc002tpp.2_Splice_Site_p.Q365_splice|SAP130_uc002tpq.1_Splice_Site_p.Q338_splice	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	365					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TTTTGGTTTTACCTGAGCCAT	0.483000													13	51					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78346514	78346514	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:78346514C>T	uc002jyh.2	+	48	13021	c.12878C>T	c.(12877-12879)tCg>tTg	p.S4293L	RNF213_uc021uen.1_Missense_Mutation_p.S4244L|LOC100294362_uc002jyi.2_Intron	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	280										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GATTTCCTCTCGGAGCCTGAG	0.557000													23	26					0	0	1	0	0
AK308561	0	broad.mit.edu	37	9	68410222	68410222	+	RNA	SNP	G	G	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr9:68410222G>T	uc004aew.1	+	0		c.225G>T								Homo sapiens cDNA, FLJ98602.																		gcgtgagagggtcgtgatgga	0.502000													3	5					0	0	1	0	0
LZTS1	11178	broad.mit.edu	37	8	20107496	20107496	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr8:20107496C>T	uc003wzr.3	-	2	1639	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	LZTS1_uc010ltg.2_Intron	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 1 (LZTS1), mRNA.	510					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	Golgi apparatus|cell junction|dendritic spine|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TCCCGCAGCTCGGCCCGCAGC	0.701000													36	13					0	0	1	0	0
SNRPA	6626	broad.mit.edu	37	19	41265493	41265493	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:41265493G>A	uc002ooz.3	+	2	959	c.404G>A	c.(403-405)gGg>gAg	p.G135E		NM_004596	NP_004587	P09012	SNRPA_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide A (SNRPA), mRNA.	135						nucleoplasm|spliceosomal complex	RNA binding|nucleotide binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCCGTGGTGGGGGCTGTCCAG	0.682000													31	25					0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101911930	101911930	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chrX:101911930G>T	uc010nod.3	+	2	3731	c.3089G>T	c.(3088-3090)tGt>tTt	p.C1030F	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Missense_Mutation_p.C1030F|GPRASP1_uc004ejj.4_Missense_Mutation_p.C1030F|GPRASP1_uc004eji.4_Missense_Mutation_p.C1030F|GPRASP1_uc022cbd.1_Missense_Mutation_p.C1030F	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	1030	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGGTCCACGTGTTCAGTTGAA	0.562000													4	131					0	0	1	0	0
EXO1	9156	broad.mit.edu	37	1	242042601	242042601	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:242042601G>C	uc021plj.1	+	10	2379	c.2065G>C	c.(2065-2067)Gca>Cca	p.A689P	EXO1_uc001hzh.3_Missense_Mutation_p.A689P|EXO1_uc009xgq.3_Missense_Mutation_p.A688P|EXO1_uc021plk.1_Missense_Mutation_p.A689P	NM_006027	NP_569082	Q9UQ84	EXO1_HUMAN	Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA.	689	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GAGTTCAAATGCATCAAAGCT	0.413000								Editing and processing nucleases					17	22					0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107062402	107062402	+	RNA	SNP	G	G	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr14:107062402G>C	uc021ser.1	-	150		c.6584C>G								Parts of antibodies, mostly variable regions.																		TCCTGGGCCCGACTCCTGCAG	0.597000													4	64					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7214029	7214029	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr10:7214029G>A	uc009xio.2	-	18	2334	c.2243C>T	c.(2242-2244)tCg>tTg	p.S748L	SFMBT2_uc001ijn.2_Missense_Mutation_p.S748L|SFMBT2_uc010qay.2_Missense_Mutation_p.S583L	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	748					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CTCCGCCGACGAGGTGTCCGT	0.711000													5	22					0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3600104	3600104	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr5:3600104G>A	uc003jde.3	+	1	1094	c.1042G>A	c.(1042-1044)Gcc>Acc	p.A348T		NM_024337	NP_077313	P78414	IRX1_HUMAN	Homo sapiens iroquois homeobox 1 (IRX1), mRNA.	348						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						cgggccctccgccggggcgcc	0.706000													7	0					0	0	1	0	0
SHQ1	55164	broad.mit.edu	37	3	72799764	72799764	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr3:72799764C>G	uc003dpf.3	-	10	1512	c.1405G>C	c.(1405-1407)Gaa>Caa	p.E469Q	SHQ1_uc010hod.3_Missense_Mutation_p.E380Q	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN	Homo sapiens SHQ1 homolog (S. cerevisiae) (SHQ1), mRNA.	469	Ser-rich.				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CCTGAGTCTTCGTTTCCAGAT	0.473000													16	19					0	0	1	0	0
DDR2	4921	broad.mit.edu	37	1	162746131	162746131	+	Missense_Mutation	SNP	C	C	T	rs121964863		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:162746131C>T	uc001gcf.3	+	16	2719	c.2254C>T	c.(2254-2256)Cgc>Tgc	p.R752C	DDR2_uc001gcg.3_Missense_Mutation_p.R752C|Metazoa_SRP_uc021pds.1_5'Flank	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.	752	Protein kinase.		R -> C (in SEMD-SL; causes retention in an intracellular compartment and thereby abolishes signaling in response collagen binding).		cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GCTCCCTATCCGCTGGATGTC	0.502000													7	112					0	0	1	0	0
CDR1	1038	broad.mit.edu	37	X	139865785	139865785	+	Silent	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chrX:139865785G>A	uc004fbg.1	-	0	939	c.747C>T	c.(745-747)acC>acT	p.T249T	AK054921_uc004fbf.1_Non-coding_Transcript	NM_004065	NP_004056	P51861	CDR1_HUMAN	Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA.	249										breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				AAGAAATCCAGGTCTTCCAGT	0.418000													96	12					0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004287	75004287	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chrX:75004287C>A	uc004ecj.2	-	0	793	c.600G>T	c.(598-600)tgG>tgT	p.W200C		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	200	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCAGCAAGTCCCAAATGGAGG	0.512000													18	26					0	0	1	0	0
KBTBD7	84078	broad.mit.edu	37	13	41768108	41768108	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr13:41768108A>C	uc001uxw.1	-	0	595	c.286T>G	c.(286-288)Ttc>Gtc	p.F96V	AK056182_uc001uxv.1_Intron	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 7 (KBTBD7), mRNA.	96	BTB.						protein binding	p.Y95fs*42(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		ATGCTCTTGAAGTAGGGACAC	0.602000													20	27					0	0	1	0	0
ALDH3A1	218	broad.mit.edu	37	17	19642904	19642904	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:19642904C>T	uc002gwk.3	-	5	1647	c.1384G>A	c.(1384-1386)Gtg>Atg	p.V462M	ALDH3A1_uc010cqu.3_Missense_Mutation_p.V345M|ALDH3A1_uc010vzd.2_Missense_Mutation_p.V345M|ALDH3A1_uc002gwj.3_Missense_Mutation_p.V345M|ALDH3A1_uc010cqv.3_Missense_Mutation_p.V344M|ALDH3A1_uc002gwl.1_Missense_Mutation_p.V272M			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	345					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	AGGCTGCGCACGCACACGATG	0.632000													9	19					0	0	1	0	0
MS4A15	219995	broad.mit.edu	37	11	60541407	60541407	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr11:60541407A>T	uc009ynf.1	+	5	816	c.596A>T	c.(595-597)cAt>cTt	p.H199L	MS4A15_uc001npx.2_Missense_Mutation_p.H106L|MS4A15_uc001npy.2_Non-coding_Transcript|MS4A15_uc009yng.1_Missense_Mutation_p.H158L	NM_001098835	NP_689930	Q8N5U1	M4A15_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 15 (MS4A15), transcript variant 1, mRNA.	199						integral to membrane	receptor activity			breast(1)|large_intestine(2)|lung(3)	6						CAAGCCATCCATGCCCAGGCC	0.607000													57	6					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11711183	11711183	+	Missense_Mutation	SNP	G	G	A	rs146734343	byFrequency	TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:11711183G>A	uc002gne.3	+	43	8623	c.8555G>A	c.(8554-8556)cGc>cAc	p.R2852H	DNAH9_uc010coo.3_Missense_Mutation_p.R2146H	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2852	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATCACACTGCGCAAAGGCTAC	0.557000													3	32					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945182	16945184	+	RNA	DEL	AAT	AAT	-	rs59197507		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:16945182_16945184delAAT	uc010ocf.2	-	3		c.973_975delATT			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		TACTGATGAAAATAATAACAGAT	0.325													4	9	---	---	---	---					
LOC388692	388692	broad.mit.edu	37	1	149285546	149285547	+	RNA	INS	-	-	A	rs144216017	by1000genomes	TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:149285546_149285547insA	uc010pbf.1	+	0		c.6071_6072insA			LOC388692_uc001esg.4_5'Flank					Homo sapiens uncharacterized LOC388692 (LOC388692), non-coding RNA.																		ttctgtctctcaaaaaaaaTGC	0.525													4	5	---	---	---	---					
CUL9	23113	broad.mit.edu	37	6	43155158	43155159	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr6:43155158_43155159delTT	uc003ouk.3	+	5	1637_1638	c.1562_1563delTT	c.(1561-1563)cttfs	p.L521fs	CUL9_uc003ouj.1_Intron|CUL9_uc003oul.3_Frame_Shift_Del_p.L521fs|CUL9_uc010jyk.3_5'UTR|CUL9_uc003oum.1_Intron	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	521					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TTCCAGAATCTTTGGAAGAACC	0.450													62	64	---	---	---	---					
SRCAP	10847	broad.mit.edu	37	16	30736370	30736371	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr16:30736370_30736371insC	uc002dze.1	+	24	6010_6011	c.5625_5626insC	c.(5623-5628)cagcccfs	p.Q1875fs	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Ins_p.Q1670fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1875	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCGACGCCAGCCCCCCCCACC	0.569													7	156	---	---	---	---					
FAM108A1	81926	broad.mit.edu	37	19	1877579	1877579	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:1877579delG	uc002luf.3	-	4	1194	c.788delC	c.(787-789)tcgfs	p.S263fs	FAM108A1_uc002lud.3_Frame_Shift_Del_p.R181fs|FAM108A1_uc002lue.3_Frame_Shift_Del_p.S212fs|FAM108A1_uc002lug.3_Frame_Shift_Del_p.S212fs	NM_031213	NP_112490	Q96GS6	F18A1_HUMAN	Homo sapiens family with sequence similarity 108, member A1 (FAM108A1), transcript variant 1, mRNA.	212						extracellular region	hydrolase activity			endometrium(2)|kidney(1)|lung(4)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(11;0.000137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGAGCGGCGAGTGCAGCAC	0.692													7	37	---	---	---	---					
