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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TEKT5	146279	broad.mit.edu	37	16	10721648	10721648	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr16:10721648T>G	uc002czz.1	-	6	1322	c.1250A>C	c.(1249-1251)aAc>aCc	p.N417T		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	417					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GAACACCTCGTTCACCAGCCT	0.542000														39			7		0	0	1	0	0
DLL3	10683	broad.mit.edu	37	19	39998572	39998572	+	Silent	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr19:39998572C>T	uc002olx.2	+	7	1834	c.1776C>T	c.(1774-1776)ttC>ttT	p.F592F	DLL3_uc002olw.2_Intron	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	Homo sapiens delta-like 3 (Drosophila) (DLL3), transcript variant 1, mRNA.	592					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGCCCCTTTTCCCCCCGCTAC	0.552000														24			23		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40758797	40758797	+	Silent	SNP	A	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr12:40758797A>T	uc001rmg.4	+	48	7456	c.7335A>T	c.(7333-7335)atA>atT	p.I2445I	LRRK2_uc009zjw.3_Silent_p.I1283I|LRRK2_uc001rmi.3_Silent_p.I1278I	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	2445					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTCGACTTATACGTGTAATTT	0.398000														31			13		0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157469765	157469765	+	Nonsense_Mutation	SNP	C	G	G			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr6:157469765C>G	uc003qqp.3	+	7	2520	c.2520C>G	c.(2518-2520)taC>taG	p.Y840*	ARID1B_uc003qqo.3_Nonsense_Mutation_p.Y853*|ARID1B_uc003qqn.3_Nonsense_Mutation_p.Y840*|ARID1B_uc003qqq.1_Nonsense_Mutation_p.Y224*	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	840					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TAGGTAACTACTCCAGACCCC	0.478000														38			20		0	0	1	0	0
CIB4	130106	broad.mit.edu	37	2	26818053	26818053	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr2:26818053G>A	uc002rhm.3	-	3	348	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C		NM_001029881	NP_001025052	A0PJX0	CIB4_HUMAN	Homo sapiens calcium and integrin binding family member 4 (CIB4), mRNA.	107	EF-hand 2.						calcium ion binding	p.R107C(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATAGATGCGAAAGGCATAC	0.527000														60			28		0	0	1	0	0
PLK1	5347	broad.mit.edu	37	16	23700914	23700914	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr16:23700914C>T	uc002dlz.1	+	8	1578	c.1525C>T	c.(1525-1527)Ccc>Tcc	p.P509S		NM_005030	NP_005021	P53350	PLK1_HUMAN	Homo sapiens polo-like kinase 1 (PLK1), mRNA.	509					G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	ATP binding|anaphase-promoting complex binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CGCCCGGCTGCCCTACCTACG	0.592000														29			5		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62198413	62198413	+	Silent	SNP	G	A	A	rs147456257	byFrequency	TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr20:62198413G>A	uc002yfm.2	-	6	3190	c.2298C>T	c.(2296-2298)caC>caT	p.H766H	PRIC285_uc002yfl.1_Silent_p.H197H	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	766					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			TGCCCCTGGCGTGGATGGGGT	0.662000														211			35		0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105449720	105449720	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chrX:105449720G>A	uc022cca.1	+	0	295	c.295G>A	c.(295-297)Gag>Aag	p.E99K	MUM1L1_uc004emg.2_Missense_Mutation_p.E99K|MUM1L1_uc004emf.2_Missense_Mutation_p.E99K	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	99										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TATTCTGAATGAGAGAACAAA	0.443000														7			18		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10352194	10352194	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr17:10352194C>T	uc002gmn.3	-	30	4463	c.4352G>A	c.(4351-4353)aGa>aAa	p.R1451K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1451					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTCAAAGTTTCTTTGCTTCTT	0.438000														39			12		0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51507285	51507285	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr15:51507285C>T	uc001zyz.4	-	8	1254	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K	CYP19A1_uc001zza.4_Missense_Mutation_p.E335K|CYP19A1_uc001zzb.2_Missense_Mutation_p.E335K	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	335					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	GTCTGGATTTCCTTTATTATT	0.338000														8			6		0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71720190	71720190	+	Silent	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr11:71720190C>T	uc001orl.1	-	18	5053	c.4881G>A	c.(4879-4881)caG>caA	p.Q1627Q	NUMA1_uc001orj.2_5'Flank|NUMA1_uc009ysw.1_Silent_p.Q1176Q|NUMA1_uc001ork.1_Silent_p.Q491Q|NUMA1_uc001orm.1_Silent_p.Q1613Q|NUMA1_uc001orn.2_Silent_p.Q1190Q	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	1627					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GCTCTTGGTTCTGCTGCTTCT	0.572000			T	RARA	APL									69			9		0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924222	188924222	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr4:188924222A>T	uc003izh.1	+	3	669	c.261A>T	c.(259-261)gaA>gaT	p.E87D	ZFP42_uc003izi.1_Missense_Mutation_p.E87D|ZFP42_uc021xvm.1_Missense_Mutation_p.E87D	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	87					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		CCATCCTGGAAGAGGACTCAC	0.458000														46			16		0	0	1	0	0
TUBA3D	113457	broad.mit.edu	37	2	132235770	132235770	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr2:132235770G>A	uc002tsu.4	+	1	230	c.37G>A	c.(37-39)Ggt>Agt	p.G13S		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.	13					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.A12A(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GGGGCAGGCGGGTGTCCAGAT	0.498000														60			29		0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107267485	107267485	+	Silent	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr9:107267485C>T	uc011lvm.2	+	0	942	c.942C>T	c.(940-942)ttC>ttT	p.F314F		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATACTGCCTTCATTTCCATCC	0.338000														30			21		0	0	1	0	0
SLC45A3	85414	broad.mit.edu	37	1	205632162	205632162	+	Silent	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr1:205632162G>A	uc001hda.1	-	2	1096	c.757C>T	c.(757-759)Ctg>Ttg	p.L253L	SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_Silent_p.L87L|SLC45A3_uc010prp.1_Intron|SLC45A3_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	Homo sapiens solute carrier family 45, member 3 (SLC45A3), mRNA.	253					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AGGGCGCCCAGGTTCCGGAAA	0.711000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate									63			16		0	0	1	0	0
BLMH	642	broad.mit.edu	37	17	28613904	28613904	+	Silent	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr17:28613904G>A	uc002hez.2	-	4	827	c.480C>T	c.(478-480)atC>atT	p.I160I	BLMH_uc010wbn.2_Silent_p.I73I	NM_000386	NP_000377	Q13867	BLMH_HUMAN	Homo sapiens bleomycin hydrolase (BLMH), mRNA.	160					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						ATTTCTTAGGGATAACACCAT	0.338000														27			6		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81647355	81647355	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr12:81647355G>A	uc001szl.1	+	14	1992	c.1901G>A	c.(1900-1902)cGa>cAa	p.R634Q	ACSS3_uc001szm.1_Missense_Mutation_p.R633Q|ACSS3_uc001szn.1_Missense_Mutation_p.R316Q	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	634						mitochondrion	ATP binding|acetate-CoA ligase activity	p.R634*(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GCTGCTTTTCGAAATGCAGTG	0.423000														43			26		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100210436	100210436	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr2:100210436G>A	uc002taf.3	-	13	1906	c.1762C>T	c.(1762-1764)Ccg>Tcg	p.P588S	AFF3_uc002tag.3_Missense_Mutation_p.P563S|AFF3_uc010fiq.1_Missense_Mutation_p.P563S|AFF3_uc010yvr.1_Missense_Mutation_p.P716S|AFF3_uc002tah.1_Missense_Mutation_p.P588S	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	563					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCGGGTGGCGGGGCGGCTGCG	0.736000														30			25		0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71604622	71604622	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr16:71604622C>T	uc002fap.2	-	7	971	c.872G>A	c.(871-873)tGg>tAg	p.W291*		NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	291					2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	p.G290C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	AATGAGGATCCAGCCCAACCT	0.488000														35			6		0	0	1	0	0
BCKDK	10295	broad.mit.edu	37	16	31120614	31120614	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr16:31120614G>A	uc002eaw.4	+	1	386	c.70G>A	c.(70-72)Gca>Aca	p.A24T	BCKDK_uc002eav.4_Missense_Mutation_p.A24T|BCKDK_uc010cai.3_Missense_Mutation_p.A24T	NM_005881	NP_005872	O14874	BCKD_HUMAN	Homo sapiens branched chain ketoacid dehydrogenase kinase (BCKDK), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	24					branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	ATP binding|[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						CCTGGGACCCGCACTCGCGCT	0.692000														21			3		0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247027368	247027368	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr1:247027368T>C	uc001ibv.2	-	26	3522	c.3425A>G	c.(3424-3426)gAg>gGg	p.E1142G	AHCTF1_uc009xgs.1_5'UTR|AHCTF1_uc001ibw.1_Non-coding_Transcript	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	1133					cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTGAATAAACTCCGAACACTG	0.443000														78			9		0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	135975748	135975748	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr9:135975748G>A	uc004cco.3	-	16	2496	c.2476C>T	c.(2476-2478)Ccg>Tcg	p.P826S	RALGDS_uc004ccn.3_Missense_Mutation_p.P14S|RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Missense_Mutation_p.P814S|RALGDS_uc004ccr.3_Missense_Mutation_p.P825S|RALGDS_uc011mcv.2_Missense_Mutation_p.P797S|RALGDS_uc004ccs.3_Missense_Mutation_p.P771S|RALGDS_uc011mcw.2_Missense_Mutation_p.P897S|RALGDS_uc004cct.1_5'Flank|RALGDS_uc004ccv.1_3'UTR|RALGDS_uc004ccu.1_3'UTR	NM_006266	NP_006257	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.	826	Ras-associating.				Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		ATTACAGCCGGAGCCTTATCT	0.602000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									119			93		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110493686	110493686	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr8:110493686G>A	uc003yne.3	+	55	9456	c.9352G>A	c.(9352-9354)Gaa>Aaa	p.E3118K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3118	G8 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CGGTGGCTGGGAAGATAACCC	0.378000										HNSCC(38;0.096)				10			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075414	9075414	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr19:9075414G>A	uc002mkp.3	-	2	12236	c.12032C>T	c.(12031-12033)tCc>tTc	p.S4011F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4013	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCAAGAAGGAATTAGGCTC	0.478000														51			11		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38743504	38743504	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr3:38743504C>T	uc003ciq.3	-	25	4483	c.4483G>A	c.(4483-4485)Gtg>Atg	p.V1495M		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1495					sensory perception	voltage-gated sodium channel complex		p.V1495V(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCAGTCTCCACCATCATGGTG	0.443000														41			18		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227914823	227914823	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr2:227914823G>C	uc021vxr.1	-	32	3276	c.3175C>G	c.(3175-3177)Cct>Gct	p.P1059A	COL4A4_uc021vxs.1_Missense_Mutation_p.P1059A	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1059	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GAAAATCCAGGGGGACCTGGA	0.423000														58			32		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31294195	31294195	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr5:31294195G>A	uc003jhe.2	+	2	715	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	CDH6_uc003jhd.2_Missense_Mutation_p.E119K	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	119	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCTGGACAGGGAAGAAAAACC	0.453000														52			17		0	0	1	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32217709	32217709	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr20:32217709C>T	uc002wzg.1	+	8	1781	c.1244C>T	c.(1243-1245)tCt>tTt	p.S415F	CBFA2T2_uc010zug.1_Missense_Mutation_p.S189F|CBFA2T2_uc002wze.1_Missense_Mutation_p.S406F|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Missense_Mutation_p.S386F|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript	NM_005093	NP_001034798	O43439	MTG8R_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA.	415						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						AGTGCAGATTCTCTCAGCAAT	0.488000														20			17		0	0	1	0	0
CLN6	54982	broad.mit.edu	37	15	68500616	68500616	+	Silent	SNP	G	A	A	rs140319056	byFrequency	TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr15:68500616G>A	uc010ujz.2	-	6	1132	c.894C>T	c.(892-894)ttC>ttT	p.F298F	CALML4_uc002arb.3_5'Flank|CALML4_uc002arc.3_5'Flank|CALML4_uc002ard.3_5'Flank|CALML4_uc002are.3_5'Flank|CALML4_uc010bhz.3_5'Flank|CLN6_uc002arf.3_Silent_p.F266F|CLN6_uc010ujy.2_Silent_p.F137F	NM_017882	NP_060352	Q9NWW5	CLN6_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 6, late infantile, variant (CLN6), mRNA.	266					cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GGGTCAGTGCGAAGGAGGAGA	0.592000														87			26		0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81381481	81381481	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr7:81381481G>A	uc003uhl.3	-	4	745	c.580C>T	c.(580-582)Cca>Tca	p.P194S	HGF_uc003uhm.3_Missense_Mutation_p.P189S|HGF_uc003uhn.1_Missense_Mutation_p.P194S|HGF_uc003uho.1_Missense_Mutation_p.P189S|HGF_uc003uhp.3_Missense_Mutation_p.P194S	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	194	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CGTACCTCTGGATTGCTTGTG	0.478000														29			15		0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80390675	80390675	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr5:80390675C>T	uc003kha.2	+	12	1669	c.1619_splice	c.e12-1	p.S540_splice	RASGRF2_uc011ctn.2_Splice_Site	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	540	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TGTGTTCAAGCTAAAGGTTCT	0.418000														40			10		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130286982	130286982	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr3:130286982G>A	uc010htl.3	+	4	1966	c.1935G>A	c.(1933-1935)atG>atA	p.M645I		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	645	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AAACATTTATGAAAAACCTGG	0.423000														75			41		0	0	1	0	0
GTPBP5	26164	broad.mit.edu	37	20	60770987	60770987	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr20:60770987G>A	uc002yce.4	+	2	372	c.334G>A	c.(334-336)Gga>Aga	p.G112R	GTPBP5_uc011aaf.2_Missense_Mutation_p.G112R|GTPBP5_uc011aab.2_5'UTR|GTPBP5_uc011aac.2_5'UTR|GTPBP5_uc011aad.2_5'UTR|GTPBP5_uc011aae.2_5'UTR	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	Homo sapiens GTP binding protein 5 (putative) (GTPBP5), mRNA.	112	Localized in the mitocondria.|Not localized in the mitocondria.				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)	15	Breast(26;3.52e-09)		BRCA - Breast invasive adenocarcinoma(19;2.5e-08)			AGGCAACGGTGGACACGTCAT	0.607000														58			22		0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62298843	62298843	+	Silent	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr20:62298843C>T	uc021wge.1	+	6	806	c.636C>T	c.(634-636)tcC>tcT	p.S212S	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Silent_p.S212S|RTEL1_uc011abd.2_Silent_p.S236S|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc002yfv.2_Silent_p.S262S|RTEL1_uc011abe.1_5'UTR	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	212	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			ACTACCTGTCCCGGAACCTGA	0.577000														456			60		0	0	1	0	0
TCL1A	8115	broad.mit.edu	37	14	96178600	96178600	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr14:96178600C>T	uc001yfc.4	-	1	384	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	TCL1A_uc001yfb.4_Missense_Mutation_p.R85Q	NM_001098725	NP_068801	P56279	TCL1A_HUMAN	Homo sapiens T-cell leukemia/lymphoma 1A (TCL1A), transcript variant 2, mRNA.	85					multicellular organismal development	endoplasmic reticulum|microsome				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		GTCTGAGGATCGGTATCGTCC	0.577000			T	TRA@	T-CLL									120			26		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225534	21225534	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr2:21225534G>A	uc002red.3	-	28	12888	c.12760C>T	c.(12760-12762)Cct>Tct	p.P4254S		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4254					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AACTCGAAAGGAAGTGTAATC	0.373000														361			200		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616573	77616573	+	Missense_Mutation	SNP	G	A	A	rs144986646	by1000genomes	TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr8:77616573G>A	uc003yau.2	+	1	637	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	ZFHX4_uc003yat.1_Missense_Mutation_p.E84K|ZFHX4_uc003yaw.1_Missense_Mutation_p.E84K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	84						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACCCTGCAACGAATGTGCCAC	0.507000										HNSCC(33;0.089)				104			85		0	0	1	0	0
PCDHB9	56127	broad.mit.edu	37	5	140567230	140567230	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr5:140567230C>T	uc003liw.1	+	0	338	c.338C>T	c.(337-339)cCc>cTc	p.P113L		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	113	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGGATGATCCCTTTCAGATT	0.428000														16			5		0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092590	30092590	+	RNA	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr18:30092590G>A	uc010dmc.3	+	0		c.965G>A								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		CTATCCTGAGGACGTGGATCA	0.468000														36			20		0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997039	19997039	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr18:19997039C>T	uc002ktv.1	-	0	840	c.736G>A	c.(736-738)Gat>Aat	p.D246N		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	246						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GCAACCCCATCTTTCATCTTT	0.368000														80			31		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96741004	96741004	+	Silent	SNP	G	A	A	rs56718285		TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr10:96741004G>A	uc001kka.4	+	6	1051	c.1026G>A	c.(1024-1026)agG>agA	p.R342R	CYP2C9_uc009xut.3_Silent_p.R340R	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	342					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TGCAAGACAGGAGCCACATGC	0.502000														79			41		0	0	1	0	0
PPP6R3	55291	broad.mit.edu	37	11	68338522	68338522	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr11:68338522T>A	uc001onv.3	+	11	1560	c.1293T>A	c.(1291-1293)tgT>tgA	p.C431*	PPP6R3_uc001onw.3_Nonsense_Mutation_p.C431*|PPP6R3_uc001ony.4_Nonsense_Mutation_p.C431*|PPP6R3_uc001onx.3_Nonsense_Mutation_p.C431*|PPP6R3_uc009ysh.3_Nonsense_Mutation_p.C380*|PPP6R3_uc001onu.3_Nonsense_Mutation_p.C380*|PPP6R3_uc010rqc.2_Nonsense_Mutation_p.C199*|PPP6R3_uc010rqd.2_Nonsense_Mutation_p.C143*	NM_001164160	NP_001157632	Q5H9R7	PP6R3_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA.	431					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCCAAAAATGTCAATTAATAG	0.284000														26			4		0	0	1	0	0
TLE2	7089	broad.mit.edu	37	19	3011090	3011090	+	Silent	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr19:3011090G>A	uc010dth.3	-	11	1208	c.945C>T	c.(943-945)acC>acT	p.T315T	TLE2_uc010xhb.2_Missense_Mutation_p.P23L|TLE2_uc002lww.3_Silent_p.T314T|TLE2_uc010xhc.2_Silent_p.T192T|TLE2_uc010dti.3_Silent_p.T328T|TLE2_uc010xhd.1_Silent_p.T222T	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	314	Pro/Ser-rich.				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		TGGGCCCGGGGGTGGAAGCGT	0.647000														12			13		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137928321	137928321	+	Silent	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr2:137928321G>A	uc002tva.1	+	5	1443	c.1443G>A	c.(1441-1443)acG>acA	p.T481T	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.T371T	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GATTTAGAACGAGGCAGCGCC	0.458000														35			20		0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703636	55703636	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr11:55703636G>A	uc010ris.2	-	0	241	c.241C>T	c.(241-243)Ccc>Tcc	p.P81S		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AGCATTTTGGGAACAATGTCT	0.388000														7			11		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117769	117769	+	RNA	SNP	C	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chrGL000205.1:117769C>A	uc002kgk.4	+	0		c.1147C>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGTTGCAGTTCGAGCCAAGGC	0.587000														42			14		1.5842e-08	1.60829e-08	1	1	0
TMCO7	79613	broad.mit.edu	37	16	68961693	68961693	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr16:68961693C>T	uc002ewi.4	+	12	2362	c.2350C>T	c.(2350-2352)Cat>Tat	p.H784Y		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA.	784						integral to membrane	binding			endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|prostate(2)	20		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		ACAAACCAGTCATGAAAGACC	0.512000														48			10		0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140648681	140648681	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr9:140648681C>T	uc011mfc.2	+	7	1344	c.1307C>T	c.(1306-1308)cCc>cTc	p.P436L	EHMT1_uc004coa.3_Missense_Mutation_p.P436L|EHMT1_uc004cob.1_Missense_Mutation_p.P405L	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	436					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ACCGACAGTCCCTGGATCAAG	0.537000														60			24		0	0	1	0	0
TBX10	347853	broad.mit.edu	37	11	67401726	67401726	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr11:67401726C>T	uc001omp.3	-	3	571	c.483G>A	c.(481-483)tgG>tgA	p.W161*		NM_005995	NP_005986	O75333	TBX10_HUMAN	Homo sapiens T-box 10 (TBX10), mRNA.	161					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						TCTGGCGCATCCACTGGGCAC	0.662000														188			32		0	0	1	0	0
AGK	55750	broad.mit.edu	37	7	141341105	141341105	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr7:141341105C>A	uc003vwi.2	+	11	955	c.784C>A	c.(784-786)Ccc>Acc	p.P262T	AGK_uc011krg.1_Intron	NM_018238	NP_060708	Q53H12	AGK_HUMAN	Homo sapiens acylglycerol kinase (AGK), nuclear gene encoding mitochondrial protein, mRNA.	262					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	ATP binding|NAD+ kinase activity|acylglycerol kinase activity|diacylglycerol kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					AGAGAGACCTCCCAATGAACC	0.468000														35			10		2.17888e-05	2.18707e-05	1	1	0
GRHPR	9380	broad.mit.edu	37	9	37426560	37426560	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr9:37426560G>C	uc003zzu.1	+	3	354	c.313G>C	c.(313-315)Gat>Cat	p.D105H	GRHPR_uc010mlu.3_Missense_Mutation_p.D25H|GRHPR_uc010mlv.1_Missense_Mutation_p.D25H|GRHPR_uc003zzt.1_Missense_Mutation_p.D25H|GRHPR_uc003zzv.1_5'Flank|GRHPR_uc003zzw.1_5'Flank	NM_012203	NP_036335	Q9UBQ7	GRHPR_HUMAN	Homo sapiens glyoxylate reductase/hydroxypyruvate reductase (GRHPR), mRNA.	105					cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	NAD binding|glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		CTACACCCCAGATGTCCTGAC	0.527000														94			40		0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12958068	12958068	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr8:12958068G>A	uc003wwm.2	-	8	2222	c.1778C>T	c.(1777-1779)tCc>tTc	p.S593F	DLC1_uc003wwk.1_Missense_Mutation_p.S156F|DLC1_uc003wwl.1_Missense_Mutation_p.S190F|DLC1_uc011kxx.1_Missense_Mutation_p.S82F	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	593					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCGGACGGAAGACACCTC	0.697000														32			25		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81253771	81253771	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr16:81253771C>T	uc002fgh.1	-	0	205	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	PKD1L2_uc002fgj.3_Missense_Mutation_p.E69K	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	69	C-type lectin.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	p.E69K(3)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGGGTGCCTTCGTCCTGAATG	0.562000														53			33		0	0	1	0	0
SSH1	54434	broad.mit.edu	37	12	109186137	109186137	+	Silent	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr12:109186137G>A	uc001tnm.3	-	13	1905	c.1818C>T	c.(1816-1818)acC>acT	p.T606T	SSH1_uc001tnl.3_Silent_p.T294T|SSH1_uc010sxg.2_Silent_p.T617T|SSH1_uc001tnn.4_Silent_p.T606T	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.	606					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GATCGAGCTGGGTTGGAAGCT	0.612000														38			19		0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38556559	38556559	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr17:38556559A>G	uc002huq.3	-	22	3061	c.2902T>C	c.(2902-2904)Ttt>Ctt	p.F968L	RARA_uc021txb.1_Intron	NM_001067	NP_001058	P11388	TOP2A_HUMAN	Homo sapiens topoisomerase (DNA) II alpha 170kDa (TOP2A), mRNA.	968					DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|apoptotic chromosome condensation|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|cytoplasm|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TTCACAACAAATTTCACAGTG	0.413000														69			17		0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155920754	155920754	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr1:155920754G>A	uc001fmu.2	-	23	2956	c.2701C>T	c.(2701-2703)Cga>Tga	p.R901*	ARHGEF2_uc001fmq.2_Nonsense_Mutation_p.R95*|ARHGEF2_uc001fmr.2_Nonsense_Mutation_p.R829*|ARHGEF2_uc001fms.2_Nonsense_Mutation_p.R856*|ARHGEF2_uc001fmt.2_Nonsense_Mutation_p.R857*	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	857					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGCTGCCTTCGAGCCTCTTCG	0.726000														15			29		0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36351511	36351511	+	Silent	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr19:36351511C>T	uc002ocb.4	+	6	1082	c.870C>T	c.(868-870)tcC>tcT	p.S290S	KIRREL2_uc002obz.4_Silent_p.S290S|KIRREL2_uc002oca.4_Silent_p.S240S|KIRREL2_uc002ocd.4_Silent_p.S287S	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	290	Ig-like C2-type 3.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCCCGTGTCCTGCGAGGTCA	0.662000														88			21		0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904193	21904193	+	RNA	SNP	C	G	G	rs9904221	by1000genomes	TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr17:21904193C>G	uc002gza.2	+	0		c.132C>G								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		cagcctcaggcctgccaggac	0.672000														30			6		0	0	1	0	0
XRCC3	7517	broad.mit.edu	37	14	104174866	104174866	+	Silent	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr14:104174866G>A	uc001ynx.4	-	4	603	c.186C>T	c.(184-186)atC>atT	p.I62I	XRCC3_uc001yny.4_Silent_p.I62I|XRCC3_uc001ynz.4_Silent_p.I62I|XRCC3_uc001yoa.4_Silent_p.I62I	NM_001100119	NP_005423	O43542	XRCC3_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 3 (XRCC3), transcript variant 1, mRNA.	62					DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		TACCTGTAAGGATGCTGCTTC	0.597000								Direct reversal of damage;Homologous recombination						19			9		0	0	1	0	0
ACTC1	70	broad.mit.edu	37	15	35083365	35083365	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr15:35083365G>A	uc001ziu.1	-	5	1183	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C	AK092087_uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.	314			R -> H (in CMD1R).		apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	I band|actomyosin, actin part|cytosol	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TTCTGCATACGATCAGCAATA	0.438000														164			82		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13737604	13737604	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr5:13737604C>T	uc003jfd.2	-	66	11254	c.11212_splice	c.e66-1	p.E3738_splice	DNAH5_uc003jfc.2_Intron	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3738	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCTCCAATTCCTATTAATTT	0.358000									Kartagener syndrome					15			8		0	0	1	0	0
ZFX	7543	broad.mit.edu	37	X	24229336	24229336	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chrX:24229336A>G	uc011mjv.2	+	9	2627	c.2378A>G	c.(2377-2379)tAt>tGt	p.Y793C	ZFX_uc004dbd.2_Missense_Mutation_p.Y754C|ZFX_uc004dbf.3_Missense_Mutation_p.Y754C|ZFX_uc004dbe.3_3'UTR|ZFX_uc022bua.1_Missense_Mutation_p.Y754C|ZFX_uc010nfx.2_Missense_Mutation_p.Y525C|ZFX_uc010nfz.3_Missense_Mutation_p.Y410C	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	754					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TACTGTGAGTATAGCACTACA	0.443000														25			42		0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43712773	43712773	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr15:43712773G>A	uc001zrs.3	-	20	4544	c.4396C>T	c.(4396-4398)Cct>Tct	p.P1466S	TP53BP1_uc010udp.2_Missense_Mutation_p.P1466S|TP53BP1_uc001zrq.4_Missense_Mutation_p.P1471S|TP53BP1_uc001zrr.4_Missense_Mutation_p.P1471S|TP53BP1_uc010udq.1_Missense_Mutation_p.P1471S	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	1466					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GCCTGGAAAGGAATTTCTGGA	0.542000								Other conserved DNA damage response genes						68			19		0	0	1	0	0
RAF1	5894	broad.mit.edu	37	3	12653553	12653553	+	Silent	SNP	C	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr3:12653553C>A	uc003bxf.4	-	2	631	c.216G>T	c.(214-216)gtG>gtT	p.V72V	RAF1_uc011aut.2_5'Flank|RAF1_uc011auu.2_Intron	NM_002880	NP_002871	P04049	RAF1_HUMAN	Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	72	RBD.				Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	TTCCATTTCGCACATTGACCT	0.498000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome					71			32		2.61193e-14	2.67198e-14	1	1	0
ADAMTS18	170692	broad.mit.edu	37	16	77398242	77398242	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr16:77398242C>T	uc002ffc.4	-	4	1234	c.815G>A	c.(814-816)aGg>aAg	p.R272K	ADAMTS18_uc010chc.1_5'Flank|ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	272					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.L271V(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTCATCAAACCTTAGATAGGT	0.468000														32			13		0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004445	75004445	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chrX:75004445C>T	uc004ecj.2	-	0	635	c.442G>A	c.(442-444)Gat>Aat	p.D148N		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	148	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						GCCTGAGGATCAATAACTCTC	0.517000														3			10		0	0	1	0	0
IDO1	3620	broad.mit.edu	37	8	39782806	39782806	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr8:39782806G>A	uc003xnm.3	+	8	886	c.772G>A	c.(772-774)Gag>Aag	p.E258K		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	258					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	AGACCCAAAGGAGTTTGCAGG	0.502000														29			8		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76752243	76752243	+	Silent	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr18:76752243G>A	uc002lmt.3	+	1	252	c.252G>A	c.(250-252)gaG>gaA	p.E84E	SALL3_uc010dra.3_5'Flank	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCGTGCACGAGGACGCGCCCG	0.726000														15			6		0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3613701	3613701	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr16:3613701A>C	uc010btn.3	-	4	1648	c.1237T>G	c.(1237-1239)Tac>Gac	p.Y413D		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	413	NACHT.				I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TAAAACACGTATTTCTTCTTG	0.607000														11			17		0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20107099	20107099	+	Silent	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr1:20107099G>A	uc001bcn.3	-	3	395	c.153C>T	c.(151-153)tcC>tcT	p.S51S	TMCO4_uc001bco.1_Silent_p.S51S|TMCO4_uc001bcp.1_Silent_p.S51S|TMCO4_uc009vpn.1_Silent_p.S51S|TMCO4_uc001bcq.1_Silent_p.S51S	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.	51						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GAAATAACTGGGACAGGGAGA	0.597000														29			15		0	0	1	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61299158	61299158	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr20:61299158C>T	uc002ydb.1	+	7	1739	c.1534C>T	c.(1534-1536)Cca>Tca	p.P512S	LOC100127888_uc002ydd.3_5'Flank|SLCO4A1_uc002yde.1_5'UTR	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.	512	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CAGCTGCCAGCCAGAACACTA	0.652000														120			26		0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72345996	72345996	+	Silent	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr18:72345996C>T	uc002llw.2	+	0	3074	c.3021C>T	c.(3019-3021)tcC>tcT	p.S1007S	ZNF407_uc010xfc.2_Silent_p.S1007S|ZNF407_uc010dqu.2_Silent_p.S1007S|ZNF407_uc002llu.2_Silent_p.S1006S	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1007					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ATGTGTACTCCCAGAGAGATG	0.453000														79			29		0	0	1	0	0
RIN2	54453	broad.mit.edu	37	20	19955650	19955650	+	Silent	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr20:19955650G>A	uc002wro.2	+	7	1277	c.1128G>A	c.(1126-1128)agG>agA	p.R376R	RIN2_uc010gcu.2_Intron|RIN2_uc010gcv.2_Silent_p.R121R	NM_001242581	NP_001229510	Q8WYP3	RIN2_HUMAN	Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 1, mRNA.	327					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GGCTGGCCAGGACTGAAACCC	0.612000														55			15		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141243044	141243044	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr2:141243044C>T	uc002tvj.1	-	58	10265	c.9293G>A	c.(9292-9294)gGa>gAa	p.G3098E		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3098					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAGGTTTTTTCCAATCCAATC	0.373000										TSP Lung(27;0.18)				30			10		0	0	1	0	0
MRPS31	10240	broad.mit.edu	37	13	41345346	41345346	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr13:41345346C>T	uc001uxm.4	-	1	1	c.-74_splice	c.e1-1			NM_005830	NP_005821	Q92665	RT31_HUMAN	Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA.							mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		CCCGCCCTCTCTTCCGCTTCC	0.637000														13			14		0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974277	16974277	+	RNA	SNP	A	C	C	rs151151026	by1000genomes	TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr1:16974277A>C	uc009vow.2	+	4		c.1087A>C			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Splice_Site|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Splice_Site|MST1P2_uc009vox.3_Splice_Site|MST1P2_uc001azm.4_Splice_Site					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GGTCCATCTAAGGGTCCGAGG	0.657000														23			4		0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169197182	169197182	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr4:169197182G>A	uc003irp.3	-	14	2421	c.2129C>T	c.(2128-2130)tCt>tTt	p.S710F		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	710							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TGGATGTAAAGAACTTGCCAA	0.358000														35			20		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179451422	179451422	+	Silent	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr2:179451422G>A	uc021vsy.1	-	256	56727	c.56502C>T	c.(56500-56502)atC>atT	p.I18834I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.I12529I|TTN_uc021vta.1_Silent_p.I12462I|TTN_uc021vtb.1_Silent_p.I12337I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19761	Ig-like 107.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTAACTAGTGATGTAGCCAT	0.478000														76			46		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	144619401	144619401	+	Missense_Mutation	SNP	A	T	T	rs61676308	by1000genomes	TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr1:144619401A>T	uc009wig.1	+	5	736	c.542A>T	c.(541-543)cAg>cTg	p.Q181L	NBPF10_uc010oxo.1_Missense_Mutation_p.Q183L|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Missense_Mutation_p.Q114L|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	183										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAGAAAGTGCAGAAATCATCT	0.413000														178			7		0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115226943	115226943	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr1:115226943G>A	uc001efe.2	-	4	571	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	AMPD1_uc001eff.2_Missense_Mutation_p.R171W	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	142					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CATAGTGCCCGATACAGACCT	0.413000														27			4		0	0	1	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21319155	21319155	+	Silent	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr17:21319155C>T	uc021tss.1	+	2	871	c.501C>T	c.(499-501)atC>atT	p.I167I	KCNJ18_uc002gyv.1_Silent_p.I167I|KCNJ18_uc021tst.1_Silent_p.I167I	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	167						integral to membrane	inward rectifier potassium channel activity										CCCAGTCCATCGTGGGCTGCA	0.617000														64			4		0	0	1	0	0
APOBEC3B	9582	broad.mit.edu	37	22	39380206	39380206	+	Silent	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr22:39380206C>T	uc003awo.1	+	1	198	c.144C>T	c.(142-144)ctC>ctT	p.L48L	APOBEC3B_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Silent_p.L48L|APOBEC3B_uc003awq.1_Non-coding_Transcript	NM_004900	NP_004891	Q9UH17	ABC3B_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B (APOBEC3B), mRNA.	48					negative regulation of transposition		RNA binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					GCTCAAATCTCCTTTGGGACA	0.483000														35			18		0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479645	4479645	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr12:4479645G>A	uc001qmq.1	-	2	766	c.620C>T	c.(619-621)tCa>tTa	p.S207L		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	Homo sapiens fibroblast growth factor 23 (FGF23), mRNA.	207					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GAGCTCCTGTGAACAGGAGGC	0.721000														12			12		0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39515377	39515377	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr2:39515377A>C	uc002rro.3	-	19	1450	c.1359T>G	c.(1357-1359)gaT>gaG	p.D453E	MAP4K3_uc002rrp.3_Missense_Mutation_p.D432E|MAP4K3_uc010yns.2_Missense_Mutation_p.D6E	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.	453					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.E452K(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CTTGATTTTCATCCTCAGTAG	0.423000														84			35		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19409809	19409809	+	RNA	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr13:19409809C>T	uc010tcj.1	-	0		c.36301G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		ACATCTCTTTCATTTCCTTTA	0.368000														41			23		0	0	1	0	0
WDR31	114987	broad.mit.edu	37	9	116083795	116083795	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr9:116083795G>A	uc004bhe.3	-	7	939	c.634C>T	c.(634-636)Ctc>Ttc	p.L212F	WDR31_uc004bhc.3_Missense_Mutation_p.L211F|WDR31_uc004bhd.3_Missense_Mutation_p.L87F|WDR31_uc004bhf.3_Non-coding_Transcript	NM_001012361	NP_001012361	Q8NA23	WDR31_HUMAN	Homo sapiens WD repeat domain 31 (WDR31), transcript variant 1, mRNA.	212										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						GCCCACCTGAGGGTTTTATCT	0.478000														33			17		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10351212	10351212	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr17:10351212C>T	uc002gmn.3	-	33	4999	c.4888G>A	c.(4888-4890)Gaa>Aaa	p.E1630K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1630					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGCTGGATTTCCATTTCATTA	0.453000														86			76		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27169586	27169586	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr9:27169586G>A	uc011lno.2	+	3	1029	c.587G>A	c.(586-588)gGa>gAa	p.G196E	TEK_uc010mjc.1_Missense_Mutation_p.G49E|TEK_uc011lnn.1_Missense_Mutation_p.G196E|TEK_uc003zqi.4_Missense_Mutation_p.G196E|TEK_uc011lnp.2_Missense_Mutation_p.G92E|TEK_uc003zqj.1_Missense_Mutation_p.G173E	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	196					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TATATAGGAGGAAACCTCTTC	0.502000														81			42		0	0	1	0	0
NAA60	79903	broad.mit.edu	37	16	3533560	3533560	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr16:3533560C>T	uc002cvh.4	+	5	781	c.535C>T	c.(535-537)Ctc>Ttc	p.L179F	NAA60_uc010uxb.1_Missense_Mutation_p.L186F|NAA60_uc010btk.1_Missense_Mutation_p.L114F|NAA60_uc010btl.3_Intron|NAA60_uc021tcf.1_Missense_Mutation_p.L179F|NAA60_uc010btm.3_Missense_Mutation_p.L179F|NAA60_uc010uxd.2_Intron|NAA60_uc010uxe.2_Intron|NAA60_uc002cvg.2_Missense_Mutation_p.L179F	NM_001083601	NP_079121	Q9H7X0	NAT15_HUMAN	Homo sapiens N(alpha)-acetyltransferase 60, NatF catalytic subunit (NAA60), transcript variant 1, mRNA.	179	N-acetyltransferase.						N-acetyltransferase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						CACCTATGTCCTCTACATCAA	0.498000														40			8		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32074487	32074487	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr5:32074487G>A	uc003jhl.3	+	17	3663	c.3275G>A	c.(3274-3276)cGt>cAt	p.R1092H	PDZD2_uc003jhm.3_Missense_Mutation_p.R1092H|PDZD2_uc011cnx.1_Missense_Mutation_p.R918H	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1092					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.R1092S(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TACACAGTCCGTACAGACACC	0.597000														71			16		0	0	1	0	0
PGS1	9489	broad.mit.edu	37	17	76395526	76395526	+	Silent	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr17:76395526G>A	uc002jvm.3	+	4	621	c.609G>A	c.(607-609)ctG>ctA	p.L203L	PGS1_uc010wtt.2_Non-coding_Transcript|PGS1_uc010dho.3_Non-coding_Transcript|PGS1_uc002jvn.3_5'UTR|PGS1_uc002jvo.3_Non-coding_Transcript|PGS1_uc002jvp.1_5'Flank	NM_024419	NP_077733	Q32NB8	PGPS1_HUMAN	Homo sapiens phosphatidylglycerophosphate synthase 1 (PGS1), mRNA.	203					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			TCCGTGGGCTGCTTCGGCTCC	0.612000														74			29		0	0	1	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61299440	61299440	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr20:61299440C>T	uc002ydb.1	+	8	1920	c.1715C>T	c.(1714-1716)tCa>tTa	p.S572L	LOC100127888_uc002ydd.3_5'Flank|SLCO4A1_uc002yde.1_Intron	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.	572					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			AAATGCACTTCAACTTGTCAG	0.473000											OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		119			24		0	0	1	0	0
HMGXB4	10042	broad.mit.edu	37	22	35689093	35689093	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr22:35689093C>T	uc003anl.3	+	9	1921	c.1747C>T	c.(1747-1749)Ccc>Tcc	p.P583S	HMGXB4_uc003ank.3_Missense_Mutation_p.P474S	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN	Homo sapiens HMG box domain containing 4 (HMGXB4), transcript variant 1, mRNA.	583					Wnt receptor signaling pathway|endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAATGGCTGTCCCAAACAGGT	0.498000														80			48		0	0	1	0	0
MARCH11	441061	broad.mit.edu	37	5	16091177	16091177	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr5:16091177G>A	uc003jfo.2	-	2	920	c.707C>T	c.(706-708)tCt>tTt	p.S236F	MARCH11_uc010itw.1_5'UTR	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 11 (MARCH11), mRNA.	236						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						CAGTGTTATAGAAATGCTCTG	0.393000														4			4		0	0	1	0	0
NDN	4692	broad.mit.edu	37	15	23932118	23932118	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr15:23932118G>A	uc001ywk.3	-	0	333	c.247C>T	c.(247-249)Ccg>Tcg	p.P83S		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	83					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	p.A82A(1)|p.P83P(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GCCGCGCTCGGGGCCTGGTGG	0.761000									Prader-Willi syndrome					12			3		0	0	1	0	0
LOC440905	440905	broad.mit.edu	37	2	130792775	130792775	+	RNA	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr2:130792775G>A	uc002tpz.2	-	7		c.2554C>T								Homo sapiens uncharacterized LOC440905 (LOC440905), non-coding RNA.																		CCTGGAATTGGAATTAAGTCT	0.463000														17			7		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320607	79320607	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr9:79320607T>C	uc010mpk.3	-	7	6707	c.6583A>G	c.(6583-6585)Ata>Gta	p.I2195V	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.I2017V	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2195					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCACCGTTTATTTCAGAAGGT	0.458000														82			31		0	0	1	0	0
ADRB2	154	broad.mit.edu	37	5	148207303	148207303	+	Silent	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr5:148207303C>T	uc003lpr.2	+	0	1148	c.909C>T	c.(907-909)atC>atT	p.I303I	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	Homo sapiens adrenergic, beta-2-, receptor, surface (ADRB2), mRNA.	303					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	ATAACCTCATCCGTAAGGAAG	0.473000														42			16		0	0	1	0	0
VAX1	11023	broad.mit.edu	37	10	118891748	118891748	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr10:118891748G>A	uc001ldb.1	-	3	778	c.533C>T	c.(532-534)tCc>tTc	p.S178F		NM_199131	NP_954582	Q5SQQ9	VAX1_HUMAN	Homo sapiens ventral anterior homeobox 1 (VAX1), transcript variant 2, mRNA.	0						nucleus	sequence-specific DNA binding	p.S178Y(2)|p.S178S(1)		endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		TCTGCCCCCGGAGTCCCCACG	0.522000														64			28		0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150921738	150921738	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr1:150921738C>T	uc001evu.2	+	10	1598	c.1408C>T	c.(1408-1410)Caa>Taa	p.Q470*	SETDB1_uc009wmf.2_Nonsense_Mutation_p.Q470*|SETDB1_uc001evv.2_Nonsense_Mutation_p.Q470*|SETDB1_uc009wmg.2_Nonsense_Mutation_p.Q470*	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	Homo sapiens SET domain, bifurcated 1 (SETDB1), transcript variant 1, mRNA.	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|chromosome|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	p.P469P(1)		NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCTATCCCCCCAAGCAGGTGA	0.488000														30			47		0	0	1	0	0
AL117485	0	broad.mit.edu	37	22	18846140	18846140	+	RNA	SNP	T	C	C			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr22:18846140T>C	uc002zoe.3	+	4		c.2502T>C			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		TAGGGCACCTTGGACCTCTCT	0.617000														16			3		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80835375	80835375	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr2:80835375C>A	uc010ysh.2	+	15	2367	c.2362C>A	c.(2362-2364)Cag>Aag	p.Q788K	CTNNA2_uc010yse.2_Missense_Mutation_p.Q788K|CTNNA2_uc010ysf.2_Missense_Mutation_p.Q788K|CTNNA2_uc010ysg.2_Intron|CTNNA2_uc010ysi.2_Missense_Mutation_p.Q420K|CTNNA2_uc010ysj.2_Missense_Mutation_p.Q117K	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	788					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GTATTGCCATCAGCTTAATAT	0.418000														59			12		5.50884e-06	5.55041e-06	1	1	0
CERS4	79603	broad.mit.edu	37	19	8322868	8322868	+	Splice_Site	SNP	C	G	G			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr19:8322868C>G	uc002mjg.3	+	10	1168	c.848_splice	c.e10+1	p.Q283_splice	CERS4_uc002mji.3_Splice_Site_p.Q119_splice|CERS4_uc010dvz.3_Intron	NM_024552	NP_078828	Q9HA82	CERS4_HUMAN	Homo sapiens ceramide synthase 4 (CERS4), mRNA.	283	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CTTTCCCACCCAGTGAGTCAG	0.562000														57			29		0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	G	G	rs141732548	by1000genomes	TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr21:14414855A>G	uc002yiy.3	+	1		c.292A>G			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		GCCAATGGCCATGCAGAAGTA	0.448000														28			4		0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176820745	176820745	+	Silent	SNP	A	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr5:176820745A>T	uc003mgk.4	+	8	1091	c.987A>T	c.(985-987)ggA>ggT	p.G329G		NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA.	329					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGACCCTTGGAAATGCCACCA	0.562000														27			13		0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45221138	45221138	+	Silent	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr20:45221138G>A	uc002xsf.2	-	5	865	c.825C>T	c.(823-825)ttC>ttT	p.F275F	SLC13A3_uc010ghn.2_Silent_p.F244F|SLC13A3_uc010zxx.2_Silent_p.F177F|SLC13A3_uc010zxw.2_Intron|SLC13A3_uc002xsg.2_Silent_p.F228F|SLC13A3_uc010gho.2_Silent_p.F228F	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	275						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ACCAGGAGCCGAAATTCACCA	0.562000														55			11		0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159277691	159277691	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr1:159277691C>T	uc001ftq.3	+	5	840	c.743C>T	c.(742-744)cCa>cTa	p.P248L		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	248						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CTTCTGAACCCACATCCTAAG	0.383000														19			42		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167674680	167674680	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr5:167674680T>A	uc010jjd.3	+	26	6709	c.6709T>A	c.(6709-6711)Ttg>Atg	p.L2237M	ODZ2_uc003lzr.4_Missense_Mutation_p.L2007M|ODZ2_uc003lzt.4_Missense_Mutation_p.L1610M|ODZ2_uc010jje.3_Missense_Mutation_p.L1501M	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.									p.P2236P(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CCTCATGCCCTTGCGCTATGA	0.557000														25			13		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618318	77618318	+	Silent	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr8:77618318G>A	uc003yau.2	+	1	2382	c.1995G>A	c.(1993-1995)gaG>gaA	p.E665E	ZFHX4_uc003yat.1_Silent_p.E665E|ZFHX4_uc003yaw.1_Silent_p.E665E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	665						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E665*(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATATGAAGGAGAAACACCCTG	0.502000										HNSCC(33;0.089)				35			16		0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637245	248637245	+	Silent	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr1:248637245C>T	uc001iel.1	+	0	594	c.594C>T	c.(592-594)tcC>tcT	p.S198S		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGACGTCTCCCTCTATAAGA	0.522000														48			33		0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72916153	72916153	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr17:72916153T>C	uc002jme.1	-	1	961	c.778A>G	c.(778-780)Acc>Gcc	p.T260A	USH1G_uc010wro.1_Missense_Mutation_p.T157A	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.	260					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					TTGGCGTAGGTGCCCTGGCGC	0.701000														51			51		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54894364	54894364	+	Silent	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr12:54894364C>T	uc001sgc.4	+	2	340	c.261C>T	c.(259-261)ttC>ttT	p.F87F	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Silent_p.F37F	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	87					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TAATTAGATTCCTCACCAACT	0.388000														55			32		0	0	1	0	0
RASSF9	9182	broad.mit.edu	37	12	86199698	86199698	+	Silent	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr12:86199698C>T	uc001taf.1	-	1	429	c.90G>A	c.(88-90)gtG>gtA	p.V30V		NM_005447	NP_005438	O75901	RASF9_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.	30	Ras-associating.				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAACCCAAACCACAATTTCCT	0.428000														43			11		0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140389554	140389554	+	Silent	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr9:140389554G>A	uc010ncj.1	-	18	2395	c.2058C>T	c.(2056-2058)gcC>gcT	p.A686A	PNPLA7_uc011mfa.1_Intron|PNPLA7_uc004cnf.2_Silent_p.A661A	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	661					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		AGTCCCGAACGGCATGCACCG	0.692000														72			29		0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17370779	17370779	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr19:17370779G>A	uc002nfs.1	-	4	808	c.695C>T	c.(694-696)tCc>tTc	p.S232F	USHBP1_uc002nfr.1_5'Flank|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.S168F|USHBP1_uc010eam.1_Missense_Mutation_p.S160F	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	232							PDZ domain binding	p.L231F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TTGGTTGTGGGAAAGATGTGG	0.582000														33			24		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401347	77401347	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr16:77401347G>A	uc002ffc.4	-	3	1188	c.769C>T	c.(769-771)Cgc>Tgc	p.R257C	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	257					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CATTTCTTGCGTCGTCCACAA	0.443000														35			19		0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553567	19553567	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr14:19553567G>A	uc001vuz.1	+	0	203	c.151G>A	c.(151-153)Gat>Aat	p.D51N	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	51										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGACCACGACGATTCTGCTAT	0.602000														660			21		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28272791	28272791	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr10:28272791C>T	uc009xky.3	-	5	898	c.800G>A	c.(799-801)gGa>gAa	p.G267E	ARMC4_uc010qds.2_5'Flank|ARMC4_uc010qdt.2_5'Flank|ARMC4_uc001itz.3_Missense_Mutation_p.G267E|ARMC4_uc010qdu.1_5'Flank	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	267							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AAATACTCCTCCTGCACTGCA	0.433000														25			13		0	0	1	0	0
UIMC1	51720	broad.mit.edu	37	5	176396235	176396235	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr5:176396235T>A	uc021yil.1	-	5	688	c.521A>T	c.(520-522)aAc>aTc	p.N174I	UIMC1_uc021yim.1_Missense_Mutation_p.N174I|UIMC1_uc021yin.1_Missense_Mutation_p.N174I|UIMC1_uc003mfd.2_Intron|UIMC1_uc003mff.1_Intron	NM_016290	NP_057374	Q96RL1	UIMC1_HUMAN	Homo sapiens ubiquitin interaction motif containing 1 (UIMC1), transcript variant 2, mRNA.	174	Necessary for interaction with NR6A1 N- terminus.				G2/M transition DNA damage checkpoint|double-strand break repair|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	K63-linked polyubiquitin binding|histone binding	p.N174N(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCAGCCTCGTTTCCCTGACT	0.498000														60			10		0	0	1	0	0
IFNAR2	3455	broad.mit.edu	37	21	34668534	34668534	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr21:34668534C>T	uc002yrl.1	+	5	1267	c.856C>T	c.(856-858)Cca>Tca	p.P286S	IFNAR2_uc002yrk.1_Missense_Mutation_p.P284S	NM_000628	NP_000619	P48551	INAR2_HUMAN	Homo sapiens interleukin 10 receptor, beta (IL10RB), mRNA.	0					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TTTCTCCTTTCCATTGTCGGA	0.448000														67			51		0	0	1	0	0
ETV6	2120	broad.mit.edu	37	12	12022522	12022522	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr12:12022522C>T	uc001qzz.3	+	4	902	c.628C>T	c.(628-630)Cgc>Tgc	p.R210C	ETV6_uc001raa.1_Missense_Mutation_p.R3C	NM_001987	NP_001978	P41212	ETV6_HUMAN	Homo sapiens ets variant 6 (ETV6), mRNA.	210						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CAACATGATCCGCCGCCTCTC	0.622000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""									46			70		0	0	1	0	0
OR4C12	283093	broad.mit.edu	37	11	50003708	50003708	+	Silent	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr11:50003708G>A	uc010ria.2	-	0	364	c.330C>T	c.(328-330)atC>atT	p.I110I		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TCAGCAGGATGATCTCAGTAG	0.458000														108			48		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179433525	179433525	+	Silent	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr2:179433525C>T	uc021vsy.1	-	274	69855	c.69630G>A	c.(69628-69630)ggG>ggA	p.G23210G	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.G16905G|TTN_uc021vta.1_Silent_p.G16838G|TTN_uc021vtb.1_Silent_p.G16713G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24137	Fibronectin type-III 68.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATCACTTCTCCCCTTTTCAT	0.428000														41			16		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72191306	72191306	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr15:72191306C>T	uc002atl.4	-	24	4011	c.3538G>A	c.(3538-3540)Gga>Aga	p.G1180R	MYO9A_uc010biq.3_Missense_Mutation_p.G800R|MYO9A_uc002atn.1_Missense_Mutation_p.G1161R|MYO9A_uc002atk.3_5'UTR|MYO9A_uc002atm.1_5'UTR	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1180	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GATCCATATCCCTTAATATTC	0.343000														108			75		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38783935	38783935	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr3:38783935C>T	uc003ciq.3	-	12	1953	c.1953G>A	c.(1951-1953)tgG>tgA	p.W651*		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	651					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGAGCTTCACCCACATGGGGC	0.512000														76			39		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140207820	140207820	+	Silent	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr5:140207820C>T	uc003lho.2	+	0	171	c.144C>T	c.(142-144)atC>atT	p.I48I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Silent_p.I48I|PCDHAC2_uc011dab.2_Silent_p.I48I	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	61	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCCGGATCGCGCAGGACC	0.657000														60			23		0	0	1	0	0
AK308867	0	broad.mit.edu	37	16	70268158	70268158	+	RNA	SNP	A	C	C			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr16:70268158A>C	uc010cfp.1	-	2		c.257T>G								Homo sapiens cDNA, FLJ98908.																		TTCTTCATTAAAACAGCTACT	0.333000														5			3		0	0	1	0	0
MRPL9	65005	broad.mit.edu	37	1	151733936	151733936	+	Silent	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr1:151733936G>A	uc001eyv.3	-	4	664	c.579C>T	c.(577-579)ttC>ttT	p.F193F	MRPL9_uc009wmz.3_Non-coding_Transcript|OAZ3_uc010pdl.2_5'Flank	NM_031420	NP_113608	Q9BYD2	RM09_HUMAN	Homo sapiens mitochondrial ribosomal protein L9 (MRPL9), nuclear gene encoding mitochondrial protein, mRNA.	193					translation	mitochondrial ribosome	structural constituent of ribosome			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CATTCTTAAAGAAGTGGCGGG	0.483000														27			60		0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53957929	53957929	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr15:53957929C>T	uc002acj.2	-	13	1844	c.1802G>A	c.(1801-1803)cGa>cAa	p.R601Q	WDR72_uc010bfi.1_Missense_Mutation_p.R601Q	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	601										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AAGAATAATTCGTGCTCTTTC	0.383000														23			13		0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92922945	92922945	+	Silent	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr14:92922945C>T	uc001yak.3	+	11	1271	c.1248C>T	c.(1246-1248)tcC>tcT	p.S416S	SLC24A4_uc001yai.3_Silent_p.S352S|SLC24A4_uc010twm.2_Silent_p.S397S|SLC24A4_uc010auj.3_Silent_p.S288S|SLC24A4_uc010twn.2_Silent_p.S172S|SLC24A4_uc001yan.3_Silent_p.S110S	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 (SLC24A4), transcript variant 1, mRNA.	416						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CCCCCTTCTCCGTGCCGGGTG	0.622000											OREG0022876	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		10			9		0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97101161	97101161	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr10:97101161G>A	uc001kkp.3	-	25	2596	c.2551C>T	c.(2551-2553)Cct>Tct	p.P851S	SORBS1_uc001kkk.3_Missense_Mutation_p.P345S|SORBS1_uc001kkl.3_Missense_Mutation_p.P453S|SORBS1_uc001kkn.3_Missense_Mutation_p.P616S|SORBS1_uc001kkm.3_Missense_Mutation_p.P651S|SORBS1_uc001kko.3_Missense_Mutation_p.P873S|SORBS1_uc001kkq.3_Missense_Mutation_p.P702S|SORBS1_uc001kkr.3_Missense_Mutation_p.P557S|SORBS1_uc001kks.3_Missense_Mutation_p.P501S|SORBS1_uc001kkt.3_Non-coding_Transcript|SORBS1_uc001kku.3_Missense_Mutation_p.P598S|SORBS1_uc001kkv.3_Missense_Mutation_p.P633S|SORBS1_uc001kkw.3_Missense_Mutation_p.P805S|SORBS1_uc010qoe.2_Missense_Mutation_p.P566S	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	851	SH3 1.				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	SH3/SH2 adaptor activity|actin binding|insulin receptor binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TCagcaggaggaagaagctga	0.408000														55			16		0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455191	187455191	+	Silent	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr4:187455191C>T	uc003izd.1	-	1	723	c.705G>A	c.(703-705)agG>agA	p.R235R		NM_005958	NP_005949	P48039	MTR1A_HUMAN	Homo sapiens melatonin receptor 1A (MTNR1A), mRNA.	235					G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	TGACAAAATTCCTGAAGTCCT	0.502000														97			38		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138208522	138208522	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr2:138208522C>T	uc002tva.1	+	13	2974	c.2974C>T	c.(2974-2976)Cga>Tga	p.R992*	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.R1023*(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGTGAGAATTCGATCCAAATG	0.408000														22			13		0	0	1	0	0
GOLGA6A	342096	broad.mit.edu	37	15	74364645	74364645	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr15:74364645C>T	uc002axa.1	-	13	1548	c.1507G>A	c.(1507-1509)Gga>Aga	p.G503R	DQ572823_uc010ulg.2_5'Flank|DQ582073_uc021sqc.1_5'Flank	NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN	Homo sapiens golgin A6 family, member A (GOLGA6A), mRNA.	503										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						TGTTGTCCTCCATCTCCTGTA	0.627000														135			15		0	0	1	0	0
RBMY1A3P	286557	broad.mit.edu	37	Y	9160425	9160425	+	RNA	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chrY:9160425C>T	uc004frl.1	-	0		c.59G>A								Homo sapiens RNA binding motif protein, Y-linked, family 1, member A3 pseudogene (RBMY1A3P), non-coding RNA.																		TCTCATTGGTCTCTCTATTGA	0.383000														42			3		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56044586	56044586	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr6:56044586C>T	uc003pcs.3	-	2	662	c.430G>A	c.(430-432)Gat>Aat	p.D144N	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.D144N|COL21A1_uc003pcu.1_Missense_Mutation_p.D144N	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	144	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.T143M(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GATTTGCCATCCGTAAGTACC	0.443000														15			16		0	0	1	0	0
DCDC5	100506627	broad.mit.edu	37	11	31113050	31113050	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr11:31113050C>T	uc009yjk.1	-	4	540	c.471G>A	c.(469-471)atG>atA	p.M157I	DCDC5_uc009yjl.1_Missense_Mutation_p.M85I|DCDC5_uc001msu.2_Missense_Mutation_p.M328I	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	0					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						GGCTCAGGATCATTCCAGTCT	0.418000														14			3		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56321050	56321050	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr19:56321050A>C	uc010ygf.2	-	4	1637	c.926T>G	c.(925-927)tTt>tGt	p.F309C	NLRP11_uc002qlz.3_Missense_Mutation_p.F210C|NLRP11_uc002qmb.3_Missense_Mutation_p.F210C|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	309	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GAAAGAGTTAAAATATATCTC	0.493000														31			14		0	0	1	0	0
RBMY1A3P	286557	broad.mit.edu	37	Y	9160442	9160442	+	RNA	SNP	A	C	C			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chrY:9160442A>C	uc004frl.1	-	0		c.42T>G								Homo sapiens RNA binding motif protein, Y-linked, family 1, member A3 pseudogene (RBMY1A3P), non-coding RNA.																		TTGAGGCCACAAATGAAAAGC	0.348000														44			4		0	0	1	0	0
KIF2A	3796	broad.mit.edu	37	5	61642984	61642984	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr5:61642984C>T	uc003jsy.4	+	1	403	c.92C>T	c.(91-93)tCt>tTt	p.S31F	KIF2A_uc003jsz.4_Missense_Mutation_p.S31F|KIF2A_uc003jsx.4_Missense_Mutation_p.S11F|KIF2A_uc010iwp.3_Missense_Mutation_p.S31F|KIF2A_uc010iwq.3_5'Flank	NM_004520	NP_004511	O00139	KIF2A_HUMAN	Homo sapiens kinesin heavy chain member 2A (KIF2A), transcript variant 1, mRNA.	31	Globular (Potential).				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding	p.S31N(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		ATGGTAACATCTTTAAATGAA	0.323000														11			4		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	144619399	144619399	+	Silent	SNP	G	A	A	rs4067645	by1000genomes	TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr1:144619399G>A	uc009wig.1	+	5	734	c.540G>A	c.(538-540)gtG>gtA	p.V180V	NBPF10_uc010oxo.1_Silent_p.V182V|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Silent_p.V113V|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	182								p.A179D(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ATGAGAAAGTGCAGAAATCAT	0.413000														177			7		0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51729081	51729081	+	Silent	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr19:51729081C>T	uc002pwa.2	+	2	481	c.441C>T	c.(439-441)atC>atT	p.I147I	CD33_uc010eos.1_Silent_p.I147I|CD33_uc010eot.1_Silent_p.I20I|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	147	Ig-like C2-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GGCCCAAAATCCTCATCCCTG	0.572000														71			24		0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116038498	116038498	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr10:116038498C>G	uc001lbl.1	+	7	1042	c.721C>G	c.(721-723)Ccc>Gcc	p.P241A	VWA2_uc001lbk.1_Missense_Mutation_p.P241A|VWA2_uc009xyf.1_5'UTR	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	241						extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CGAGGCTCACCCCTGTGAGCA	0.647000														67			27		0	0	1	0	0
ANXA10	11199	broad.mit.edu	37	4	169049311	169049311	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr4:169049311G>A	uc003irm.3	+	1	259	c.95G>A	c.(94-96)gGa>gAa	p.G32E		NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	Homo sapiens annexin A10 (ANXA10), mRNA.	32							calcium ion binding|calcium-dependent phospholipid binding	p.Q31*(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		GCACTCCAAGGATTTGGTAAG	0.378000														32			25		0	0	1	0	0
BC035867	0	broad.mit.edu	37	22	20970673	20970673	+	RNA	SNP	C	G	G			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr22:20970673C>G	uc002zsv.3	-	8		c.1952G>C								Homo sapiens, clone IMAGE:5171202, mRNA.																		AGAGAAGTGTCGCTTCAGGGG	0.587000														13			5		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38663950	38663950	+	Silent	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr3:38663950G>A	uc021wvo.1	-	2	475	c.423C>T	c.(421-423)atC>atT	p.I141I	SCN5A_uc021wvk.1_Silent_p.I141I|SCN5A_uc021wvl.1_Silent_p.I141I|SCN5A_uc021wvm.1_Silent_p.I141I|SCN5A_uc021wvn.1_Silent_p.I141I|SCN5A_uc021wvp.1_Silent_p.I141I|SCN5A_uc021wvq.1_Silent_p.I141I|SCN5A_uc021wvr.1_Silent_p.I141I|SCN5A_uc021wvs.1_Silent_p.I141I|SCN5A_uc021wvt.1_Silent_p.I141I|SCN5A_uc021wvu.1_Silent_p.I141I|SCN5A_uc021wvv.1_Silent_p.I141I|SCN5A_uc021wvj.1_Silent_p.I7I|SCN5A_uc021wvi.1_Silent_p.I7I|SCN5A_uc010hhl.1_Silent_p.I7I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	141					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AGTTGGTGAGGATGGTGCACA	0.632000														11			5		0	0	1	0	0
INPP5B	3633	broad.mit.edu	37	1	38331529	38331529	+	Silent	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr1:38331529C>T	uc001ccf.1	-	15	1963	c.1926G>A	c.(1924-1926)ctG>ctA	p.L642L	INPP5B_uc009vvk.1_Intron|INPP5B_uc001ccg.1_Silent_p.L806L	NM_005540	NP_005531	P32019	I5P2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA.	886					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGAAAAGCAGCAGGGCTTCGG	0.512000														26			18		0	0	1	0	0
C12orf74	338809	broad.mit.edu	37	12	93100879	93100879	+	Silent	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr12:93100879C>T	uc001tch.2	+	1	923	c.472C>T	c.(472-474)Ctg>Ttg	p.L158L	C12orf74_uc001tci.3_Silent_p.L158L|C12orf74_uc021rbt.1_Silent_p.L158L	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN	Homo sapiens chromosome 12 open reading frame 74 (C12orf74), transcript variant 2, mRNA.	158										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						AGGCCACTTCCTGCCCAGCCC	0.562000														28			4		0	0	1	0	0
ZNF18	7566	broad.mit.edu	37	17	11895895	11895895	+	Silent	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr17:11895895G>A	uc002gng.1	-	3	857	c.252C>T	c.(250-252)ctC>ctT	p.L84L	ZNF18_uc002gnh.1_Silent_p.L84L|ZNF18_uc002gni.1_Silent_p.L84L	NM_144680	NP_653281	P17022	ZNF18_HUMAN	Homo sapiens zinc finger protein 18 (ZNF18), mRNA.	84	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		GCTCCAACATGAGGATCTCTA	0.527000														64			12		0	0	1	0	0
C15orf23	90417	broad.mit.edu	37	15	40675107	40675107	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr15:40675107C>T	uc001zll.3	+	0	186	c.71C>T	c.(70-72)tCc>tTc	p.S24F	C15orf23_uc001zlo.3_Missense_Mutation_p.S24F|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_Missense_Mutation_p.S24F	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA.	24						nucleus	protein binding	p.S24F(2)		central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	14		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		GAGTGCGATTCCCACCCACTT	0.567000														48			14		0	0	1	0	0
SCEL	8796	broad.mit.edu	37	13	78184235	78184235	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr13:78184235A>G	uc001vki.3	+	21	1501	c.1331A>G	c.(1330-1332)aAc>aGc	p.N444S	SCEL_uc010thx.2_Missense_Mutation_p.N402S|SCEL_uc001vkj.3_Missense_Mutation_p.N424S	NM_144777	NP_659001	O95171	SCEL_HUMAN	Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.	444	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AACAGAACTAACCAAGGGTAA	0.393000														33			13		0	0	1	0	0
ARL16	339231	broad.mit.edu	37	17	79650840	79650840	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr17:79650840C>T	uc002kbf.3	-	0	115	c.16G>A	c.(16-18)Ggg>Agg	p.G6R	ARL16_uc021ufd.1_5'Flank|HGS_uc010wus.2_5'Flank|HGS_uc002kbg.3_5'Flank	NM_001040025	NP_001035114	Q0P5N6	ARL16_HUMAN	Homo sapiens ADP-ribosylation factor-like 16 (ARL16), mRNA.	6							GTP binding	p.G6R(2)		central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			AAGGCCCGCCCACCGGCCACT	0.637000														15			24		0	0	1	0	0
RG9MTD2	93587	broad.mit.edu	37	4	100475031	100475031	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr4:100475031G>A	uc003huy.3	-	5	869	c.556C>T	c.(556-558)Ctt>Ttt	p.L186F	RG9MTD2_uc003huz.4_Missense_Mutation_p.L186F|RG9MTD2_uc003hva.4_Missense_Mutation_p.L186F	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 2 (RG9MTD2), transcript variant 1, mRNA.	186							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|urinary_tract(2)	19				OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)		TCTGACGTAAGGTAAATCAGG	0.348000														44			22		0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64977081	64977081	+	Silent	SNP	G	C	C			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr10:64977081G>C	uc001jmn.3	-	4	864	c.564C>G	c.(562-564)tcC>tcG	p.S188S	JMJD1C_uc001jml.3_5'UTR|JMJD1C_uc001jmm.3_5'UTR|JMJD1C_uc010qiq.2_Silent_p.S6S|JMJD1C_uc009xpi.3_Silent_p.S6S|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmp.1_5'UTR	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	188					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ATCCATTTAAGGAATAAGGAC	0.368000														32			9		0	0	1	0	0
POLDIP2	26073	broad.mit.edu	37	17	26684605	26684605	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr17:26684605G>A	uc002haz.3	-	1	1	c.-129_splice	c.e1-1		POLDIP2_uc010wag.2_Splice_Site|TMEM199_uc002hba.3_5'Flank|TMEM199_uc010wah.1_5'Flank	NM_015584	NP_056399	Q9Y2S7	PDIP2_HUMAN	Homo sapiens polymerase (DNA-directed), delta interacting protein 2 (POLDIP2), mRNA.							mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CCGGAGCTCAGAGCAACTTCC	0.726000														11			9		0	0	1	0	0
KLF6	1316	broad.mit.edu	37	10	3821734	3821734	+	Silent	SNP	G	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr10:3821734G>T	uc001iha.3	-	3	1116	c.849C>A	c.(847-849)ctC>ctA	p.L283L	KLF6_uc010qaj.2_3'UTR|KLF6_uc010qak.2_Non-coding_Transcript|KLF6_uc010qal.2_Silent_p.L241L	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Homo sapiens Kruppel-like factor 6 (KLF6), transcript variant A, mRNA.	283					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		TGCTCCCTCAGAGGTGCCTCT	0.562000														28			15		3.27435e-08	3.31156e-08	1	1	0
LOC389033	389033	broad.mit.edu	37	2	130681236	130681236	+	RNA	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr2:130681236C>T	uc010yzp.1	-	1		c.158G>A								Homo sapiens placenta-specific 9 pseudogene (LOC389033), non-coding RNA.																		CCCAGGTGATCCACGGTCTTC	0.617000														8			3		0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228679	57228679	+	Silent	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr8:57228679C>T	uc010lyk.1	-	1	866	c.228G>A	c.(226-228)ggG>ggA	p.G76G	SDR16C5_uc003xsy.1_Silent_p.G76G|SDR16C5_uc010lyl.1_Silent_p.G76G	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	76					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity	p.E75K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TTTCCTCATTCCCCTCCTTAT	0.522000														31			87		0	0	1	0	0
RNF151	146310	broad.mit.edu	37	16	2017795	2017795	+	Silent	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr16:2017795G>A	uc002cnt.1	+	2	227	c.219G>A	c.(217-219)cgG>cgA	p.R73R	TCRBV20S1_uc021tak.1_Intron|RPS2_uc002cnn.2_5'Flank|RPS2_uc002cno.2_5'Flank	NM_174903	NP_777563	Q2KHN1	RN151_HUMAN	Homo sapiens ring finger protein 151 (RNF151), mRNA.	73					cell differentiation|spermatogenesis	cytoplasm|nucleus	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(1)	2						ATAAACTCCGGAAAACCATTG	0.527000														5			10		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				73			55		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196683021	196683021	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr1:196683021G>A	uc001gtj.4	+	9	1733	c.1493G>A	c.(1492-1494)gGa>gAa	p.G498E	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	498	Sushi 8.				complement activation, alternative pathway	extracellular space		p.G498E(4)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGGAAAGATGGATGGTCAGCT	0.333000														28			55		0	0	1	0	0
IQCF1	132141	broad.mit.edu	37	3	51929003	51929003	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr3:51929003C>T	uc003dbv.3	-	3	619	c.521G>A	c.(520-522)aGa>aAa	p.R174K	IQCF1_uc003dbq.4_Intron	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN	Homo sapiens IQ motif containing F1 (IQCF1), mRNA.	174										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGCTGTGACTCTGTACTGGCC	0.542000														91			47		0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124826446	124826446	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr3:124826446C>T	uc003ehw.4	-	9	1741	c.1671G>A	c.(1669-1671)tgG>tgA	p.W557*	SLC12A8_uc003ehv.4_Nonsense_Mutation_p.W528*|SLC12A8_uc003eht.4_Nonsense_Mutation_p.W329*|SLC12A8_uc010hry.3_Nonsense_Mutation_p.W281*	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	528					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						CCTGCCCCTCCCAGGAGGCAG	0.562000														50			31		0	0	1	0	0
SYCE1	93426	broad.mit.edu	37	10	135368917	135368917	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr10:135368917C>T	uc001lno.2	-	11	961	c.856G>A	c.(856-858)Gga>Aga	p.G286R	CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.G158R|SYCE1_uc009ybn.2_Missense_Mutation_p.G286R|SYCE1_uc001lnn.2_Missense_Mutation_p.G250R	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN	Homo sapiens synaptonemal complex central element protein 1 (SYCE1), transcript variant 4, mRNA.	286	Gln-rich.				cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		ACTTGCATTCCATGCTTTTCC	0.562000														76			46		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82584204	82584204	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr7:82584204G>A	uc003uhx.2	-	4	6354	c.6065C>T	c.(6064-6066)tCt>tTt	p.S2022F	PCLO_uc003uhv.2_Missense_Mutation_p.S2022F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1953					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGGCACAACAGAATGTAAGCT	0.373000														54			31		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578514	44578514	+	Silent	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr7:44578514G>A	uc003tlb.3	-	1	1538	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F	NPC1L1_uc011kbw.2_Silent_p.F494F|NPC1L1_uc003tlc.3_Silent_p.F494F|NPC1L1_uc003tld.3_Silent_p.F494F	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	494					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GGTTGTTCTGGAAATACTGCA	0.557000														45			15		0	0	1	0	0
NADKD1	133686	broad.mit.edu	37	5	36225643	36225643	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr5:36225643C>T	uc003jkf.4	-	4	560	c.560_splice	c.e4+1	p.R187_splice	NADKD1_uc010iux.3_Intron|NADKD1_uc003jkg.4_Splice_Site_p.R24_splice|NADKD1_uc011cov.2_Splice_Site_p.R24_splice	NM_001085411	NP_694558	Q4G0N4	NAKD1_HUMAN	Homo sapiens NAD kinase domain containing 1 (NADKD1), transcript variant 1, mRNA.	187							NAD+ kinase activity			NS(1)|breast(1)|lung(5)|ovary(4)|prostate(1)	12						TTCTTTCTTACCGTTCTGGAT	0.368000														41			15		0	0	1	0	0
RNF150	57484	broad.mit.edu	37	4	142053624	142053624	+	Silent	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr4:142053624G>A	uc003iio.1	-	0	993	c.339C>T	c.(337-339)cgC>cgT	p.R113R	RNF150_uc010iok.1_Silent_p.R113R|RNF150_uc003iip.1_Silent_p.R113R	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	Homo sapiens ring finger protein 150 (RNF150), mRNA.	113	PA.					integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					AGTTCTTGCCGCGGGTCGGGG	0.657000														14			6		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72830830	72830830	+	Silent	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr16:72830830C>T	uc002fck.3	-	8	6424	c.5751G>A	c.(5749-5751)gaG>gaA	p.E1917E	ZFHX3_uc002fcl.3_Silent_p.E1003E	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1917					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ACTCTTTCTTCTCTTTGGCCT	0.577000														29			27		0	0	1	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	39891	39891	+	Silent	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chrGL000218.1:39891G>A	uc011mfn.2	-	3	515	c.426C>T	c.(424-426)cgC>cgT	p.R142R	LOC100233156_uc003jah.2_Silent_p.R142R					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		GGGCTGCTTCGCGGCACAGCT	0.612000														26			6		0	0	1	0	0
OR6K3	391114	broad.mit.edu	37	1	158687447	158687447	+	Silent	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr1:158687447G>A	uc021pbn.1	-	0	459	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GCAGGATAAGGAAACCGAAGA	0.512000														43			92		0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43893785	43893785	+	Silent	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr1:43893785C>T	uc001cjk.2	+	25	3828	c.1218C>T	c.(1216-1218)gtC>gtT	p.V406V		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	1305						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGTGCTATGTCCGTGGTGAGC	0.642000														28			24		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1265406	1265406	+	Silent	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr11:1265406G>A	uc001lta.3	+	30	7355	c.7296G>A	c.(7294-7296)acG>acA	p.T2432T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	2432	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCGGGGACGACCTGGATCC	0.627000														73			36		0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	82996917	82996917	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr7:82996917G>T	uc003uhy.2	-	16	2934	c.2313C>A	c.(2311-2313)caC>caA	p.H771Q	SEMA3E_uc022agy.1_Missense_Mutation_p.H711Q	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	771					axon guidance	extracellular space|membrane	receptor activity	p.H771fs*>5(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AGTCCAGCGTGTGCCTGGGCA	0.418000														127			38		8.16277e-20	8.38254e-20	1	1	0
CSN3	1448	broad.mit.edu	37	4	71114847	71114847	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr4:71114847C>T	uc003hfe.4	+	3	278	c.220C>T	c.(220-222)Cca>Tca	p.P74S		NM_005212	NP_005203	P07498	CASK_HUMAN	Homo sapiens casein kappa (CSN3), mRNA.	74						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AATTAATAATCCATATGTGCC	0.433000														25			22		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56549390	56549390	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr19:56549390G>A	uc002qmj.3	+	10	2616	c.2616_splice	c.e10-1	p.R872_splice	NLRP5_uc002qmi.3_Splice_Site_p.R853_splice	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	872						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGTCTCTGCAGGCTGGATTGC	0.557000														21			13		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415890	86415890	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr7:86415890G>A	uc003uid.3	+	2	1881	c.782G>A	c.(781-783)cGa>cAa	p.R261Q	GRM3_uc010lef.3_Missense_Mutation_p.R259Q|GRM3_uc010leg.3_Missense_Mutation_p.R133Q|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	261					synaptic transmission	integral to plasma membrane		p.R261L(2)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AGCGTGATCCGAGAACTGTTG	0.652000														39			23		0	0	1	0	0
HSP90AB3P	3327	broad.mit.edu	37	4	88813148	88813148	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr4:88813148G>A	uc010iko.1	+	0	154	c.154G>A	c.(154-156)Gac>Aac	p.D52N						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		TGATGCCTTGGACAAGATTCG	0.463000														42			25		0	0	1	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61299387	61299387	+	Silent	SNP	C	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr20:61299387C>A	uc002ydb.1	+	8	1867	c.1662C>A	c.(1660-1662)atC>atA	p.I554I	LOC100127888_uc002ydd.3_5'Flank|SLCO4A1_uc002yde.1_Intron	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.	554	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			GTAGCTGTATCCCTCAGAATC	0.537000														120			25		1.17739e-12	1.19986e-12	1	1	0
VIT	5212	broad.mit.edu	37	2	36970354	36970354	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr2:36970354A>T	uc002rpl.3	+	3	532	c.230A>T	c.(229-231)gAc>gTc	p.D77V	VIT_uc002rpk.3_Missense_Mutation_p.D77V|VIT_uc010ynf.2_Missense_Mutation_p.D70V|VIT_uc002rpm.3_Missense_Mutation_p.D77V|VIT_uc010ezv.3_Missense_Mutation_p.D77V|VIT_uc010ezw.3_Missense_Mutation_p.D77V	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	77	LCCL.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TATGGCACTGACGTGTATGCA	0.478000														45			19		0	0	1	0	0
DMRTA1	63951	broad.mit.edu	37	9	22447722	22447722	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr9:22447722G>A	uc003zpp.1	+	0	883	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K		NM_022160	NP_071443	Q5VZB9	DMRTA_HUMAN	Homo sapiens DMRT-like family A1 (DMRTA1), mRNA.	220					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		TTATCCTGAGGAAAAACAAGG	0.552000														9			13		0	0	1	0	0
FBXO5	26271	broad.mit.edu	37	6	153296353	153296353	+	Silent	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr6:153296353G>A	uc003qpg.3	-	1	616	c.507C>T	c.(505-507)ttC>ttT	p.F169F	FBXO5_uc003qph.3_Silent_p.F123F	NM_012177	NP_001135994	Q9UKT4	FBX5_HUMAN	Homo sapiens F-box protein 5 (FBXO5), transcript variant 1, mRNA.	169	Interaction with EVI5.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		GACTGTCACCGAAATTCTCCT	0.423000														38			18		0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49626128	49626128	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr20:49626128G>A	uc002xwa.4	-	1	1043	c.748C>T	c.(748-750)Ccc>Tcc	p.P250S	KCNG1_uc002xwb.3_Missense_Mutation_p.P250S	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	250						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CTCAGGCTGGGCAAGGTGCTG	0.667000														37			5		0	0	1	0	0
VPS54	51542	broad.mit.edu	37	2	64208967	64208967	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr2:64208967C>T	uc002scq.3	-	2	354	c.191G>A	c.(190-192)tGg>tAg	p.W64*	VPS54_uc002scp.3_Nonsense_Mutation_p.W52*	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	Homo sapiens vacuolar protein sorting 54 homolog (S. cerevisiae) (VPS54), transcript variant 1, mRNA.	64					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						ATATACAGTCCATCTATGTTG	0.363000														63			16		0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46287777	46287777	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr13:46287777C>T	uc001van.1	+	2	697	c.617C>T	c.(616-618)tCg>tTg	p.S206L	SPERT_uc001vao.2_Missense_Mutation_p.S170L	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	206						cytoplasmic membrane-bounded vesicle		p.S206S(1)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CACAAGGCCTCGCTGGGCCGA	0.642000														38			26		0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142031492	142031492	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr3:142031492G>A	uc003eus.3	-	40	4833	c.4766C>T	c.(4765-4767)cCc>cTc	p.P1589L	XRN1_uc010huu.3_Missense_Mutation_p.P1043L|XRN1_uc003eut.3_Missense_Mutation_p.P1576L|XRN1_uc003euu.3_Missense_Mutation_p.P1577L	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	1589					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CCCAGCCATGGGCATGGTCCC	0.443000														75			40		0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7818394	7818394	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr11:7818394C>T	uc001mfp.1	-	0	96	c.96G>A	c.(94-96)atG>atA	p.M32I		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M32I(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATAGGATGATCATGAAGAGGA	0.433000														35			14		0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904197	21904197	+	RNA	SNP	C	T	T	rs9904223	by1000genomes	TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr17:21904197C>T	uc002gza.2	+	0		c.136C>T								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		ctcaggcctgccaggacggtg	0.672000														31			6		0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74946209	74946209	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr16:74946209G>A	uc002fdh.1	-	13	1378	c.1276C>T	c.(1276-1278)Cgt>Tgt	p.R426C	WDR59_uc002fdi.3_Missense_Mutation_p.R426C|WDR59_uc021tli.1_Missense_Mutation_p.R405C|WDR59_uc002fdg.1_Missense_Mutation_p.R18C	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	426	RWD.									breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						ATCTTGACACGATGGTTGCTG	0.502000														45			37		0	0	1	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45949732	45949732	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr11:45949732C>T	uc001nbv.1	+	12	1870	c.1759C>T	c.(1759-1761)Cac>Tac	p.H587Y	GYLTL1B_uc001nbw.1_Missense_Mutation_p.H556Y|GYLTL1B_uc001nbx.1_Missense_Mutation_p.H587Y	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA.	587					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		GCACAGGTACCACGAGTGGCC	0.657000														26			24		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32633798	32633798	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr9:32633798G>A	uc003zrg.1	-	0	1870	c.1780C>T	c.(1780-1782)Ccc>Tcc	p.P594S	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	594					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity	p.P594H(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGTTGCTTGGGGAAATAATAC	0.483000														141			56		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53820920	53820920	+	Missense_Mutation	SNP	C	T	T	rs145414503		TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr3:53820920C>T	uc003dgv.4	+	39	5027	c.4864C>T	c.(4864-4866)Cgg>Tgg	p.R1622W	CACNA1D_uc003dgu.4_Missense_Mutation_p.R1642W|CACNA1D_uc003dgy.4_Missense_Mutation_p.R1607W|CACNA1D_uc003dgw.4_Missense_Mutation_p.R1289W|CACNA1D_uc003dgx.1_Missense_Mutation_p.R798W	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1622					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R1642W(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ATTCAAGAAACGGAAAGAACA	0.443000														35			10		0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11008241	11008241	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr1:11008241C>T	uc010oao.2	-	11	1951	c.1951G>A	c.(1951-1953)Gac>Aac	p.D651N	C1orf127_uc001ars.2_Missense_Mutation_p.D486N|C1orf127_uc001arr.2_Missense_Mutation_p.D494N	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	502										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCCTCTATGTCCTGGCTTGGT	0.647000														46			29		0	0	1	0	0
C6orf70	55780	broad.mit.edu	37	6	170176106	170176106	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr6:170176106C>T	uc003qxg.1	+	14	1498	c.1465C>T	c.(1465-1467)Cat>Tat	p.H489Y	C6orf70_uc011ehb.1_Missense_Mutation_p.H363Y|C6orf70_uc003qxh.1_Missense_Mutation_p.H489Y|C6orf70_uc010kky.1_Missense_Mutation_p.H363Y|C6orf70_uc003qxi.1_Missense_Mutation_p.H137Y	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	Homo sapiens chromosome 6 open reading frame 70 (C6orf70), mRNA.	489						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		GCTGTATCACCATATGCCTGA	0.378000														32			10		0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72346708	72346708	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr18:72346708C>T	uc002llw.2	+	0	3786	c.3733C>T	c.(3733-3735)Ccc>Tcc	p.P1245S	ZNF407_uc010xfc.2_Missense_Mutation_p.P1245S|ZNF407_uc010dqu.2_Missense_Mutation_p.P1245S|ZNF407_uc002llu.2_Missense_Mutation_p.P1244S	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGGTGTTGTCCCCCACAGACA	0.542000														42			13		0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921190	247921190	+	Silent	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr1:247921190G>A	uc010pza.2	-	0	519	c.519C>T	c.(517-519)atC>atT	p.I173I		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AATGATGGATGATATTGGAGG	0.473000														24			43		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118347	118347	+	RNA	SNP	A	G	G			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chrGL000205.1:118347A>G	uc002kgk.4	+	0		c.1725A>G								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGACTTCTGCAGCCAGGGAAG	0.542000														27			12		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92345605	92345605	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr13:92345605A>G	uc010tif.2	+	2	856	c.490A>G	c.(490-492)Aac>Gac	p.N164D		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	164						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AGAATTTGTAAACAGATTTTT	0.463000														82			28		0	0	1	0	0
B3GALT1	8708	broad.mit.edu	37	2	168725727	168725727	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr2:168725727C>T	uc021vsc.1	+	0	178	c.178C>T	c.(178-180)Cca>Tca	p.P60S	B3GALT1_uc002udz.1_Missense_Mutation_p.P60S	NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 (B3GALT1), mRNA.	60					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						ACCTATCAACCCACATTCTTT	0.413000														74			20		0	0	1	0	0
CCK	885	broad.mit.edu	37	3	42299634	42299634	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr3:42299634C>T	uc021wwk.1	-	2	431	c.304G>A	c.(304-306)Gat>Aat	p.D102N	CCK_uc003cld.1_Missense_Mutation_p.D102N	NM_001174138	NP_001167609	P06307	CCKN_HUMAN	Homo sapiens cholecystokinin (CCK), transcript variant 2, mRNA.	102					axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		CGGCCAAAATCCATCCAGCCC	0.587000														64			27		0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70505018	70505018	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr4:70505018C>T	uc011caq.2	-	2	1060	c.944G>A	c.(943-945)tGg>tAg	p.W315*	UGT2A1_uc010ihu.3_Intron|UGT2A1_uc003hem.4_Intron|UGT2A1_uc010ihs.3_Nonsense_Mutation_p.W114*|UGT2A1_uc021xox.1_Nonsense_Mutation_p.W114*|UGT2A1_uc010iht.3_Intron	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	105					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GTAGAAAGCCCATATTGTGAG	0.368000														71			28		0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21344765	21344765	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr22:21344765G>A	uc002zto.3	+	7	845	c.742G>A	c.(742-744)Gga>Aga	p.G248R	LZTR1_uc002ztn.3_Missense_Mutation_p.G207R|LZTR1_uc011ahy.2_Missense_Mutation_p.G229R|LZTR1_uc010gsr.1_Missense_Mutation_p.G119R	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	248					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	p.G248R(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGGGCAAAGCGGAGCCAAAAT	0.562000														95			30		0	0	1	0	0
S100A7L2	645922	broad.mit.edu	37	1	153409535	153409535	+	Silent	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr1:153409535C>T	uc010pdx.2	-	2	416	c.338G>A	c.(337-339)tGa>tAa	p.*113*		NM_001045479	NP_001038944			Homo sapiens S100 calcium binding protein A7-like 2 (S100A7L2), mRNA.											NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGGTGGGATCACTGGCTTCC	0.498000														371			49		0	0	1	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr10:51093329C>T	uc001jih.3	-	8	1891	c.1750G>A	c.(1750-1752)Gca>Aca	p.A584T	PARG_uc009xoj.3_Missense_Mutation_p.A135T|PARG_uc001jif.3_Missense_Mutation_p.A584T|PARG_uc001jig.3_Missense_Mutation_p.A170T|PARG_uc010qgv.2_Intron|PARG_uc009xoi.3_Intron|PARG_uc010qgw.2_Missense_Mutation_p.A475T|PARG_uc010qgx.2_Missense_Mutation_p.A502T	NM_003631	NP_003622	Q86W56	PARG_HUMAN	Homo sapiens poly (ADP-ribose) glycohydrolase (PARG), mRNA.	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(2)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000														69			4		0	0	1	0	0
OR1J4	26219	broad.mit.edu	37	9	125281684	125281684	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr9:125281684G>A	uc011lyw.2	+	0	265	c.265G>A	c.(265-267)Gat>Aat	p.D89N		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						GCAAACTCAGGATCAATCCAT	0.413000														108			50		0	0	1	0	0
RSAD1	55316	broad.mit.edu	37	17	48559550	48559550	+	Silent	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr17:48559550C>T	uc002iqw.1	+	3	629	c.573C>T	c.(571-573)cgC>cgT	p.R191R	RSAD1_uc010wmq.1_Non-coding_Transcript	NM_018346	NP_060816	Q9HA92	RSAD1_HUMAN	Homo sapiens radical S-adenosyl methionine domain containing 1 (RSAD1), mRNA.	191					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TTCCCGGGCGCGTGTCTGTAG	0.667000											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			11		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31040136	31040136	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr19:31040136G>A	uc002nsu.1	+	3	3748	c.3610G>A	c.(3610-3612)Gat>Aat	p.D1204N	ZNF536_uc010edd.1_Missense_Mutation_p.D1204N	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CAGCAGCAGCGATGGCGGGGA	0.602000														53			14		0	0	1	0	0
MKLN1	4289	broad.mit.edu	37	7	131012748	131012748	+	Silent	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr7:131012748C>T	uc011kpm.2	+	0	154	c.90C>T	c.(88-90)taC>taT	p.Y30Y	MKLN1_uc011kpl.2_Intron|MKLN1_uc010lmh.2_Silent_p.Y30Y|MKLN1_uc003vqs.3_5'UTR|AK054623_uc003vqr.1_5'Flank	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN	Homo sapiens muskelin 1, intracellular mediator containing kelch motifs (MKLN1), transcript variant 2, mRNA.	30					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					CCTCCACCTACCTTCCCGAGT	0.672000														21			4		0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47682712	47682712	+	Silent	SNP	T	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr6:47682712T>A	uc003oyz.1	+	6	1902	c.1902T>A	c.(1900-1902)gtT>gtA	p.V634V	GPR115_uc003oza.1_Silent_p.V577V|GPR115_uc003ozb.1_Silent_p.V577V|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	577					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TGATTGTGGTTTTGGTTGTTG	0.468000														78			113		0	0	1	0	0
CAMKV	79012	broad.mit.edu	37	3	49899546	49899546	+	Silent	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr3:49899546C>T	uc003cxt.1	-	2	352	c.159G>A	c.(157-159)aaG>aaA	p.K53K	CAMKV_uc011bcy.1_5'UTR|CAMKV_uc003cxv.1_Silent_p.K53K|CAMKV_uc003cxw.1_5'UTR|CAMKV_uc003cxx.1_5'UTR|CAMKV_uc003cxu.2_Silent_p.K53K|CAMKV_uc011bcz.1_Missense_Mutation_p.R30K|CAMKV_uc011bda.1_Silent_p.K53K|CAMKV_uc011bdb.1_Non-coding_Transcript	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	53	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCTGGAACTTCTTGCAGGTGT	0.587000														24			16		0	0	1	0	0
ECT2	1894	broad.mit.edu	37	3	172472443	172472443	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr3:172472443T>A	uc003fii.2	+	1	261	c.123T>A	c.(121-123)taT>taA	p.Y41*	ECT2_uc010hwv.1_Nonsense_Mutation_p.Y41*|ECT2_uc003fih.2_Nonsense_Mutation_p.Y41*|ECT2_uc003fij.1_Nonsense_Mutation_p.Y41*|ECT2_uc003fik.1_Nonsense_Mutation_p.Y41*|ECT2_uc003fil.1_Nonsense_Mutation_p.Y41*	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene (ECT2), mRNA.	41					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			CTACTTCATATGTAGAAGGTA	0.313000														13			7		0	0	1	0	0
BATF2	116071	broad.mit.edu	37	11	64761963	64761963	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr11:64761963C>T	uc001ocf.1	-	1	229	c.98G>A	c.(97-99)cGa>cAa	p.R33Q		NM_138456	NP_612465	Q8N1L9	BATF2_HUMAN	Homo sapiens basic leucine zipper transcription factor, ATF-like 2 (BATF2), mRNA.	33						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						CTGCCGGCTTCGCTGGGCGGC	0.632000														11			7		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38938697	38938697	+	Missense_Mutation	SNP	G	A	A	rs146174311		TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr3:38938697G>A	uc021wvy.1	-	13	2241	c.2042C>T	c.(2041-2043)gCc>gTc	p.A681V	SCN11A_uc010hhn.1_5'Flank	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	681					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.A681V(2)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CCAGGATTTGGCTAACTTGAA	0.413000														20			17		0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125315479	125315479	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr9:125315479G>A	uc011lyx.2	+	0	31	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CAGATCACACGAACTACAAGG	0.453000														32			25		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	72096	72096	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chrGL000209.1:72096G>A	uc002qui.2	+	2	257	c.246G>A	c.(244-246)atG>atA	p.M82I	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc010yic.2_Missense_Mutation_p.M79I|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evg.1_Intron|KIR2DL2_uc010evh.1_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001083539	NP_001077008	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 (KIR3DS1), mRNA.	87	Ig-like C2-type 1.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										GCTTCAACATGAGCCCTGTGA	0.512000														12			34		0	0	1	0	0
CHMP5	51510	broad.mit.edu	37	9	33280807	33280807	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr9:33280807G>A	uc003zsm.4	+	8	810	c.610_splice	c.e8-1	p.D204_splice	CHMP5_uc011lnv.2_Splice_Site_p.G166_splice	NM_016410	NP_057494	Q9NZZ3	CHMP5_HUMAN	Homo sapiens charged multivesicular body protein 5 (CHMP5), transcript variant 1, mRNA.	204					cellular membrane organization|protein transport	cytosol|endosome membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10			LUSC - Lung squamous cell carcinoma(29;0.00506)			CTTTTTACAGGATGGAGTTCT	0.313000														101			14		0	0	1	0	0
THSD1	55901	broad.mit.edu	37	13	52971458	52971458	+	Missense_Mutation	SNP	C	T	T	rs141269153		TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr13:52971458C>T	uc001vgo.3	-	2	1475	c.930G>A	c.(928-930)atG>atA	p.M310I	THSD1_uc001vgp.3_Missense_Mutation_p.M310I|THSD1_uc010tgz.2_Intron	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.	310						extracellular region|integral to membrane|intracellular membrane-bounded organelle		p.M310I(2)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TATTCTTCCCCATGTCAAACA	0.448000														40			26		0	0	1	0	0
COX10	1352	broad.mit.edu	37	17	13980198	13980198	+	Silent	SNP	T	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr17:13980198T>A	uc002gof.4	+	2	528	c.324T>A	c.(322-324)tcT>tcA	p.S108S	COX10_uc010vvs.2_Intron|COX10_uc010vvt.2_5'UTR	NM_001303	NP_001294	Q12887	COX10_HUMAN	Homo sapiens COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) (COX10), nuclear gene encoding mitochondrial protein, mRNA.	108					heme O biosynthetic process|heme a biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		CCAGCCTATCTTTGTCCAGAA	0.418000														26			11		0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752283	247752283	+	Missense_Mutation	SNP	C	T	T	rs145391203		TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr1:247752283C>T	uc010pyy.2	+	0	622	c.622C>T	c.(622-624)Ctt>Ttt	p.L208F		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L208F(2)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGCTAGTATCCTTTTCCTTAT	0.498000														117			13		0	0	1	0	0
FAM113B	91523	broad.mit.edu	37	12	47629874	47629874	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr12:47629874C>T	uc001rpq.3	+	1	1553	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F	FAM113B_uc001rpn.3_Missense_Mutation_p.S343F|FAM113B_uc021qxi.1_Missense_Mutation_p.S343F	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	343	Pro-rich.						hydrolase activity	p.S343F(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					GCCTGTTTTTCCTCAGACCAT	0.542000														133			23		0	0	1	0	0
HELQ	113510	broad.mit.edu	37	4	84375049	84375049	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr4:84375049T>C	uc003hom.3	-	1	526	c.347A>G	c.(346-348)gAa>gGa	p.E116G	HELQ_uc010ikb.3_Missense_Mutation_p.E116G|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript|HELQ_uc003hon.1_Missense_Mutation_p.E10G|HELQ_uc003hoo.1_Missense_Mutation_p.E79G|HELQ_uc003hop.1_Missense_Mutation_p.E10G|HELQ_uc003hoq.1_Missense_Mutation_p.E116G|MRPS18C_uc003hor.4_5'Flank	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	Homo sapiens helicase, POLQ-like (HELQ), mRNA.	116							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AAAGGAGTTTTCAGTAAAGCT	0.373000								Other identified genes with known or suspected DNA repair function						138			65		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227958912	227958912	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr2:227958912C>T	uc021vxr.1	-	18	1399	c.1298G>A	c.(1297-1299)gGa>gAa	p.G433E	COL4A4_uc021vxs.1_Missense_Mutation_p.G433E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	433	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCCTGGTTTTCCTGGAGCAGA	0.552000														47			23		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31323076	31323076	+	Silent	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr5:31323076G>A	uc003jhe.2	+	11	2394	c.2034G>A	c.(2032-2034)agG>agA	p.R678R		NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	678					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.R678G(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCACCCTGAGGAATCCTGAAG	0.507000														36			12		0	0	1	0	0
LIPC	3990	broad.mit.edu	37	15	58840749	58840749	+	Silent	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr15:58840749G>A	uc010bga.2	+	7	1637	c.1029G>A	c.(1027-1029)acG>acA	p.T343T	LIPC_uc010bfz.1_Silent_p.T343T|LIPC_uc002afa.2_Silent_p.T343T|LIPC_uc010bgb.1_Silent_p.T241T|LIPC_uc010ugy.2_Silent_p.T282T	NM_000236	NP_000227	P11150	LIPC_HUMAN	Homo sapiens lipase, hepatic (LIPC), mRNA.	343					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TCCTCGTAACGCGAGCCCAGT	0.632000														6			3		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17766723	17766723	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr19:17766723G>A	uc021uqk.1	-	9	1294	c.1252C>T	c.(1252-1254)Cct>Tct	p.P418S		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	418					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TCAGCCTCAGGGATCTGCTCA	0.677000														14			6		0	0	1	0	0
ARHGAP11B	89839	broad.mit.edu	37	15	30938440	30938440	+	RNA	SNP	A	G	G	rs115448147	by1000genomes	TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr15:30938440A>G	uc010azv.1	+	10		c.1250A>G			ARHGAP11B_uc001zeu.3_Non-coding_Transcript|LOC100288637_uc001zev.3_Non-coding_Transcript			Q3KRB8	RHGBB_HUMAN	Homo sapiens Rho GTPase activating protein 11B (ARHGAP11B), mRNA.						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CTCCTTTGCTATTTGTGCATG	0.493000														30			4		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31196841	31196841	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chrX:31196841G>A	uc004dda.1	-	69	10412	c.10168C>T	c.(10168-10170)Ccc>Tcc	p.P3390S	DMD_uc004dcq.1_Missense_Mutation_p.P661S|DMD_uc004dcr.1_Missense_Mutation_p.P930S|DMD_uc004dcs.1_Missense_Mutation_p.P930S|DMD_uc004dct.1_Missense_Mutation_p.P930S|DMD_uc004dcu.1_Missense_Mutation_p.P930S|DMD_uc004dcv.1_Missense_Mutation_p.P930S|DMD_uc004dcw.2_Missense_Mutation_p.P2046S|DMD_uc004dcx.2_Missense_Mutation_p.P2049S|DMD_uc004dcz.2_Missense_Mutation_p.P3267S|DMD_uc004dcy.1_Missense_Mutation_p.P3386S|DMD_uc004ddb.1_Missense_Mutation_p.P3382S|DMD_uc004dcp.1_Missense_Mutation_p.P322S|DMD_uc011mkb.1_Missense_Mutation_p.P322S|DMD_uc004dcm.1_Missense_Mutation_p.P322S|DMD_uc004dcn.1_Missense_Mutation_p.P322S|DMD_uc004dco.1_Missense_Mutation_p.P322S|DMD_uc010ngm.3_Missense_Mutation_p.P322S	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	3390	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCCATTCGGGGATGCTTCGCA	0.428000														21			57		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140176128	140176128	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr5:140176128G>A	uc003lhd.2	+	0	1685	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.E527K|PCDHAC2_uc011czy.2_Missense_Mutation_p.E527K	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	541	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCACGAGGAAGTGGAGCT	0.687000														60			22		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60689253	60689254	+	Frame_Shift_Ins	INS	-	G	G			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr2:60689253_60689254insG	uc002sae.1	-	3	1021_1022	c.793_794insC	c.(793-795)ctgfs	p.L265fs	BCL11A_uc002sab.3_Frame_Shift_Ins_p.L265fs|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Frame_Shift_Ins_p.L231fs|BCL11A_uc002sad.1_Frame_Shift_Ins_p.L113fs|BCL11A_uc002saf.1_Frame_Shift_Ins_p.L231fs	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	265	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGGACTAAACAGGGGGGGAGTG	0.584			T	IGH@	B-CLL								---	742	---	---	7	---					
EDEM1	9695	broad.mit.edu	37	3	5248941	5248941	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr3:5248941delT	uc003bqi.3	+	6	1453	c.1321delT	c.(1321-1323)tttfs	p.F441fs	EDEM1_uc011asz.1_Frame_Shift_Del_p.F219fs|EDEM1_uc021wsl.1_Frame_Shift_Del_p.F246fs	NM_014674	NP_055489	Q92611	EDEM1_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 1 (EDEM1), mRNA.	441					ER-associated protein catabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		TCTGCAGGCCTTTTTCCCTGG	0.463													---	193	---	---	7	---					
PPP1R18	170954	broad.mit.edu	37	6	30653494	30653496	+	In_Frame_Del	DEL	TGC	-	-			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr6:30653494_30653496delTGC	uc003nra.3	-	1	531_533	c.300_302delGCA	c.(298-303)cagcaa>caa	p.100_101QQ>Q	PPP1R18_uc003nrb.4_In_Frame_Del_p.100_101QQ>Q	NM_001134870	NP_597728	Q6NYC8	PHTNS_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 18 (PPP1R18), transcript variant 2, mRNA.	100	Poly-Gln.					cytoplasm|cytoskeleton	actin binding	p.Q100Q(1)									CCGTtgttgttgctgctgctgct	0.650													---	133	---	---	7	---					
PRRC2B	84726	broad.mit.edu	37	9	134350033	134350034	+	Frame_Shift_Ins	INS	-	GC	GC			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chr9:134350033_134350034insGC	uc004can.4	+	14	2572_2573	c.2517_2518insGC	c.(2515-2520)gatgcafs	p.D839fs	PRRC2B_uc010mzj.1_Frame_Shift_Ins_p.D422fs|PRRC2B_uc004cao.4_Frame_Shift_Ins_p.D197fs	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	839							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						ATGTTCAGGATGCAGGTGCTCC	0.500													---	27	---	---	7	---					
JA660597	0	broad.mit.edu	37	Y	10037863	10037863	+	RNA	DEL	C	-	-			TCGA-FS-A1ZT-06A-11D-A197-08	TCGA-FS-A1ZT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aebbb5e9-9014-45fa-87e0-3a67d9f01a7c	4040c106-4f6d-4fde-ae73-f591f01ccb2f	g.chrY:10037863delC	uc022cjg.1	+	0		c.18delC								Homo sapiens piRNA piR-32678, complete sequence.																		ATCGACACTTCGAACGCACTT	0.552													---	6	---	---	3	---