Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
GRIN2B	2904	broad.mit.edu	37	12	13906702	13906702	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr12:13906702G>A	uc001rbt.2	-	2	738	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	187					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding	p.R187C(2)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGGTGCTGCGGATCTTGTTT	0.473000													8	124					0	0	1	0	0
AK302879	0	broad.mit.edu	37	15	76073206	76073206	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr15:76073206G>A	uc010umm.1	+	5	495	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	DNM1P35_uc021sqp.1_Intron|DQ582939_uc002bba.1_5'Flank					SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;																		CCGACACTTCGAAGGTGGGAA	0.502000													5	101					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55533746	55533746	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr8:55533746G>T	uc003xsd.1	+	1	368	c.220G>T	c.(220-222)Gtg>Ttg	p.V74L	RP1_uc011ldy.1_Missense_Mutation_p.V74L	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	74	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTCCAGGAAGGTGCCCCTCCC	0.597000													11	169					9.05144e-12	1.00169e-11	1	1	0
KIF13B	23303	broad.mit.edu	37	8	28981588	28981588	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr8:28981588C>T	uc003xhh.4	-	26	3364	c.3305G>A	c.(3304-3306)cGt>cAt	p.R1102H	AF086219_uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	1102					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GTACTCCTGACGTTTTGTTAA	0.343000													5	39					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77885614	77885614	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr7:77885614G>T	uc003ugx.3	-	9	1947	c.1693C>A	c.(1693-1695)Ccg>Acg	p.P565T	MAGI2_uc003ugy.3_Missense_Mutation_p.P565T|MAGI2_uc010ldx.1_Missense_Mutation_p.P174T|MAGI2_uc010ldy.1_Missense_Mutation_p.P174T|MAGI2_uc011kgr.1_Missense_Mutation_p.P397T|MAGI2_uc011kgs.1_Missense_Mutation_p.P402T	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	565						cell junction|synapse|synaptosome	phosphatase binding	p.P565L(1)|p.R564Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GAATGAGGCGGCCGATCTGTT	0.507000													7	98					1.06961e-07	1.13818e-07	1	1	0
GRIN2B	2904	broad.mit.edu	37	12	13716623	13716623	+	Silent	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr12:13716623C>T	uc001rbt.2	-	12	3728	c.3549G>A	c.(3547-3549)acG>acA	p.T1183T		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1183					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTTTGTCGCCCGTCCCGTGCT	0.617000													7	150					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13206053	13206053	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr9:13206053C>A	uc010mia.1	-	9	1393	c.1336G>T	c.(1336-1338)Gag>Tag	p.E446*	MPDZ_uc010mhz.3_Nonsense_Mutation_p.E446*|MPDZ_uc011lmn.2_Nonsense_Mutation_p.E446*|MPDZ_uc010mhy.3_Nonsense_Mutation_p.E446*|MPDZ_uc003zlb.4_Nonsense_Mutation_p.E446*	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	446	PDZ 3.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CGCAATACCTCTACTGCTTGC	0.393000													3	31					1	1	1	1	0
CYYR1	116159	broad.mit.edu	37	21	27852702	27852702	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr21:27852702C>A	uc002yme.3	-	2	545	c.223G>T	c.(223-225)Ggg>Tgg	p.G75W	CYYR1_uc002ymd.3_Missense_Mutation_p.G75W|CYYR1_uc011ack.2_Non-coding_Transcript	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	Homo sapiens cysteine/tyrosine-rich 1 (CYYR1), mRNA.	75						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GCAATGACCCCCATGATAAAT	0.463000													7	147					2.52707e-12	2.83441e-12	1	1	0
EIF4G3	8672	broad.mit.edu	37	1	21268144	21268144	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:21268144G>A	uc001bec.3	-	8	1591	c.1335C>T	c.(1333-1335)gcC>gcT	p.A445A	EIF4G3_uc010odi.2_Silent_p.A49A|EIF4G3_uc010odj.2_Silent_p.A444A|EIF4G3_uc009vpz.3_Intron|EIF4G3_uc001bef.3_Silent_p.A444A|EIF4G3_uc001bee.3_Silent_p.A451A|EIF4G3_uc001beg.3_Silent_p.A444A|EIF4G3_uc010odk.2_Silent_p.A445A|EIF4G3_uc001beh.3_Silent_p.A456A	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	445					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GGACTGTGATGGCAGCACTCG	0.488000													11	201					0	0	1	0	0
GARS	2617	broad.mit.edu	37	7	30651808	30651808	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr7:30651808T>G	uc003tbm.3	+	7	1335	c.978T>G	c.(976-978)atT>atG	p.I326M		NM_002047	NP_002038	P41250	SYG_HUMAN	Homo sapiens glycyl-tRNA synthetase (GARS), mRNA.	326					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CTGCCCAGATTGGAAATTCTT	0.423000													9	84					0	0	1	0	0
NLRP6	171389	broad.mit.edu	37	11	281299	281299	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:281299C>T	uc010qvs.2	+	3	1565	c.1565C>T	c.(1564-1566)gCg>gTg	p.A522V	NLRP6_uc010qvt.2_Missense_Mutation_p.A522V	NM_138329	NP_612202	P59044	NALP6_HUMAN	Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.	522						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCCAGGACCGCGGCTGGCGGC	0.677000													5	21					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46060562	46060562	+	Silent	SNP	A	A	G			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:46060562A>G	uc003gxb.3	-	5	855	c.703T>C	c.(703-705)Tta>Cta	p.L235L		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	235					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AACTGATATAATCTCCAGTAT	0.348000													10	69					0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187698677	187698677	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr2:187698677C>T	uc002upu.1	-	5	864	c.824G>A	c.(823-825)cGt>cAt	p.R275H		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	275					apoptosis		zinc ion binding	p.R275C(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CTGTACCTCACGAAATGTAAA	0.363000													13	60					0	0	1	0	0
ATP6AP1L	92270	broad.mit.edu	37	5	81613927	81613927	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:81613927G>A	uc003khv.3	+	9	1808	c.483G>A	c.(481-483)ctG>ctA	p.L161L	ATP6AP1L_uc003khw.3_Silent_p.L161L	NM_001017971	NP_001017971	Q52LC2	VAS1L_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 1-like (ATP6AP1L), mRNA.	161					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						TCCTGCTGCTGGTGTTGGCCT	0.557000													5	70					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587486	55587486	+	Silent	SNP	T	T	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:55587486T>A	uc010rin.2	+	0	381	c.381T>A	c.(379-381)atT>atA	p.I127I		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCGTGGCCATTTGCAACCCTC	0.463000													23	160					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558380	140558380	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:140558380C>G	uc011dai.2	+	0	1010	c.765C>G	c.(763-765)gaC>gaG	p.D255E	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	255	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTCTGAGGACAGTCCAATAA	0.468000													27	162					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179414390	179414390	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr2:179414390C>T	uc021vsy.1	-	286	84580	c.84355G>A	c.(84355-84357)Ggc>Agc	p.G28119S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G21814S|TTN_uc021vta.1_Missense_Mutation_p.G21747S|TTN_uc021vtb.1_Missense_Mutation_p.G21622S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29046	Fibronectin type-III 105.						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)			TATTCATTGCCGTTTATTAGT	0.408000													5	84					0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4567000	4567000	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:4567000G>A	uc010qyf.2	+	0	580	c.580G>A	c.(580-582)Gac>Aac	p.D194N		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GACATGTGGCGACAGCAGGGT	0.512000													31	181					0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131761728	131761728	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr10:131761728G>T	uc021qav.1	-	1	253	c.152C>A	c.(151-153)tCc>tAc	p.S51Y	EBF3_uc001lki.2_Missense_Mutation_p.S65Y|EBF3_uc010qur.1_Missense_Mutation_p.S51Y	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	65					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	p.R51L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GAAGAAATTGGATTTCCGGAG	0.612000													8	59					0.000673444	0.000690072	1	1	0
C12orf63	374467	broad.mit.edu	37	12	97082742	97082742	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr12:97082742G>A	uc021rcc.1	+	9	1416	c.1338G>A	c.(1336-1338)ttG>ttA	p.L446L				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	446										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GTTGCATTTTGTCTGCGTTAC	0.274000													18	113					0	0	1	0	0
KLHL8	57563	broad.mit.edu	37	4	88091688	88091688	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:88091688C>T	uc011cdb.1	-	6	1673	c.1288G>A	c.(1288-1290)Gtg>Atg	p.V430M	KLHL8_uc003hql.1_Missense_Mutation_p.V430M|KLHL8_uc003hqm.1_Missense_Mutation_p.V354M|KLHL8_uc003hqn.1_Missense_Mutation_p.V247M|KLHL8_uc010ikj.1_Missense_Mutation_p.V79M	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	Homo sapiens kelch-like 8 (Drosophila) (KLHL8), mRNA.	430										breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TATCTCTCCACATCATTGAAG	0.428000													10	128					0	0	1	0	0
PCBP4	57060	broad.mit.edu	37	3	51993277	51993277	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr3:51993277G>A	uc003dcc.2	-	6	1452	c.731C>T	c.(730-732)gCg>gTg	p.A244V	PCBP4_uc003dcb.2_Missense_Mutation_p.A189V|PCBP4_uc003dcf.2_Missense_Mutation_p.A223V|PCBP4_uc003dce.2_Silent_p.C224C|PCBP4_uc003dcg.2_Missense_Mutation_p.A189V|PCBP4_uc003dcj.2_Missense_Mutation_p.A223V|PCBP4_uc003dck.2_Missense_Mutation_p.A180V|PCBP4_uc003dch.2_Missense_Mutation_p.A223V|PCBP4_uc003dci.2_Missense_Mutation_p.A63V			P57723	PCBP4_HUMAN	Homo sapiens poly(rC) binding protein 4 (PCBP4), transcript variant 4, mRNA.	223	KH 3.					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAAGGGGACCGCATGGCTTGA	0.637000													3	50					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439197	14439197	+	RNA	SNP	G	G	C			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr21:14439197G>C	uc002yja.4	+	9		c.2715G>C								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		AAGAAGAAGAGAAGAGAAGAA	0.289000													4	50					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156589802	156589802	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:156589802G>A	uc003lwn.3	-	1	1574	c.1474C>T	c.(1474-1476)Cga>Tga	p.R492*		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	492						nucleus		p.R492Q(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGCCATGTCGCTTGCCCCTT	0.512000													16	109					0	0	1	0	0
CDC20	991	broad.mit.edu	37	1	43826262	43826262	+	Silent	SNP	C	C	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:43826262C>A	uc001cix.3	+	6	947	c.846C>A	c.(844-846)tcC>tcA	p.S282S	CDC20_uc001ciy.3_Silent_p.S282S	NM_001255	NP_001246	Q12834	CDC20_HUMAN	Homo sapiens cell division cycle 20 homolog (S. cerevisiae) (CDC20), mRNA.	282					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATATCCTGTCCAGGTCAGTGG	0.512000													6	108					2.7689e-08	2.98465e-08	1	1	0
TRIM60	166655	broad.mit.edu	37	4	165962517	165962517	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:165962517G>A	uc003iqy.1	+	2	1463	c.1293G>A	c.(1291-1293)atG>atA	p.M431I	TRIM60_uc010iqx.1_Missense_Mutation_p.M431I|TRIM60_uc021xty.1_Missense_Mutation_p.M431I	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	431	B30.2/SPRY.					intracellular	zinc ion binding	p.M431T(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TTTATAATATGAATGATAGGT	0.373000													6	89					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101709135	101709135	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:101709135C>T	uc003knn.3	-	12	2253	c.2081G>A	c.(2080-2082)cGt>cAt	p.R694H	SLCO6A1_uc003kno.3_Missense_Mutation_p.R441H|SLCO6A1_uc003knp.3_Missense_Mutation_p.R694H|SLCO6A1_uc003knq.3_Missense_Mutation_p.R632H	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	694						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CTCATTTAGACGACGTTTGTA	0.323000													12	120					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77255306	77255306	+	Silent	SNP	A	A	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:77255306A>T	uc003hkb.4	-	17	2832	c.2679T>A	c.(2677-2679)gcT>gcA	p.A893A		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	893										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TCAGTGTGTTAGCTTTTGTAG	0.393000													5	69					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7520913	7520913	+	Silent	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:7520913C>T	uc003jdz.1	+	2	538	c.471C>T	c.(469-471)gaC>gaT	p.D157D		NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	157					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.D157D(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACATGCGAGACGCCATCATTG	0.547000													6	87					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75017918	75017918	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr14:75017918G>A	uc001xqa.3	-	6	1922	c.1535C>T	c.(1534-1536)cCg>cTg	p.P512L		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	512					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.P512P(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CAGCCAGGGCGGGGGTCTGGT	0.706000													5	40					0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4674486	4674486	+	Missense_Mutation	SNP	G	G	A	rs148787592		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:4674486G>A	uc021qcq.1	+	0	730	c.730G>A	c.(730-732)Gtc>Atc	p.V244I	OR51E1_uc001lzi.4_Missense_Mutation_p.V244I	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V243I(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCACTTGCGTCTCTCATGT	0.498000													13	75					0	0	1	0	0
CYP7A1	1581	broad.mit.edu	37	8	59409693	59409693	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr8:59409693G>A	uc003xtm.4	-	2	441	c.378C>T	c.(376-378)aaC>aaT	p.N126N		NM_000780	NP_000771	P22680	CP7A1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.	126					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TGAAAGTGTCGTTTATGTTTT	0.443000									Neonatal Giant Cell Hepatitis				6	87					0	0	1	0	0
WDR1	9948	broad.mit.edu	37	4	10077032	10077032	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:10077032G>A	uc021xlv.1	-	14	2074	c.1791C>T	c.(1789-1791)gcC>gcT	p.A597A	WDR1_uc021xlw.1_Silent_p.A457A|WDR1_uc010idm.3_Non-coding_Transcript	NM_017491	NP_059830	O75083	WDR1_HUMAN	Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.	597					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCTTGACAGAGGCATCATGGG	0.567000													7	53					0	0	1	0	0
CLN5	1203	broad.mit.edu	37	13	77570092	77570092	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr13:77570092C>T	uc001vkc.3	+	2	570	c.542C>T	c.(541-543)aCa>aTa	p.T181I		NM_006493	NP_006484	O75503	CLN5_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 5 (CLN5), mRNA.	132					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		AAGAACTACACAATGGAATGG	0.423000													11	172					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201020210	201020210	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:201020210C>T	uc001gvv.3	-	32	4242	c.4015G>A	c.(4015-4017)Gac>Aac	p.D1339N		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1339	Dihydropyridine binding (By similarity).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GACTCTGGGTCACACAGCTTC	0.547000													6	118					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81592440	81592440	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr15:81592440C>G	uc021ssh.1	+	12	2874	c.2773C>G	c.(2773-2775)Cca>Gca	p.P925A	IL16_uc010blq.1_Missense_Mutation_p.P879A|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Missense_Mutation_p.P967A|IL16_uc002bgg.3_Missense_Mutation_p.P925A|IL16_uc002bgi.1_Missense_Mutation_p.P315A|IL16_uc002bgj.3_Missense_Mutation_p.P419A|IL16_uc021ssi.1_Missense_Mutation_p.P224A|IL16_uc002bgl.1_Missense_Mutation_p.P224A|IL16_uc010unq.1_Missense_Mutation_p.P224A	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	925					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTCCCCTCCCCCAGGGCGGCA	0.642000													11	70					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chrX:37028425A>G	uc004ddl.2	+	0	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	648								p.N648D(11)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													5	147					0	0	1	0	0
ROM1	6094	broad.mit.edu	37	11	62381890	62381890	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:62381890C>T	uc001ntv.3	+	1	1292	c.751C>T	c.(751-753)Caa>Taa	p.Q251*	EML3_uc001ntr.1_5'Flank|EML3_uc001nts.1_5'Flank|EML3_uc001ntt.1_5'Flank|EML3_uc001ntu.1_5'Flank|EML3_uc010rly.1_5'Flank	NM_000327	NP_000318	Q03395	ROM1_HUMAN	Homo sapiens retinal outer segment membrane protein 1 (ROM1), mRNA.	251					cell adhesion|visual perception	integral to plasma membrane				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						CCTCTGGGCCCAAGGGTGCCA	0.602000													19	94					0	0	1	0	0
FAM75C2	645961	broad.mit.edu	37	9	90746621	90746621	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr9:90746621G>A	uc011lti.2	-	3	1360	c.1331C>T	c.(1330-1332)cCa>cTa	p.P444L		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	444																	AGGACTGACTGGAAAGTTCTC	0.498000													8	141					0	0	1	0	0
UBC	7316	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	by1000genomes	TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr17:21730916G>T	uc002gyy.3	+	1	343	c.218G>T	c.(217-219)cGg>cTg	p.R73L				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	225	Ubiquitin-like 1.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.R73L(24)|p.R72S(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GTCCTGCGTCGGAGAGGTGGT	0.552000													4	85					0.000602214	0.000624797	1	1	0
LAMB4	22798	broad.mit.edu	37	7	107732214	107732214	+	Missense_Mutation	SNP	G	G	A	rs143703672		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr7:107732214G>A	uc010ljo.1	-	13	1642	c.1558C>T	c.(1558-1560)Ccc>Tcc	p.P520S	LAMB4_uc003vey.2_Missense_Mutation_p.P520S	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	520	Laminin EGF-like 5; truncated.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CCATTCTTGGGTGAGCACCTG	0.493000													8	110					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30938764	30938764	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr8:30938764G>A	uc003xio.4	+	8	2009	c.1221G>A	c.(1219-1221)caG>caA	p.Q407Q	WRN_uc011lbd.1_Silent_p.Q110Q|WRN_uc011lbe.1_5'Flank	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	407					DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTTTGGAACAGCAGTCTCAGG	0.338000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				6	78					0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140908744	140908744	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:140908744C>T	uc003llb.4	-	20	2914	c.2773G>A	c.(2773-2775)Gtg>Atg	p.V925M	DIAPH1_uc011dbd.2_5'Flank|DIAPH1_uc003llc.4_Missense_Mutation_p.V916M|DIAPH1_uc021yep.1_Missense_Mutation_p.V925M|DIAPH1_uc021yeq.1_Missense_Mutation_p.V916M|DIAPH1_uc010jgc.1_Missense_Mutation_p.V361M	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	925	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	Rho GTPase binding|actin binding|receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACCACCACGCCAAACTGC	0.512000													16	135					0	0	1	0	0
UBC	7316	broad.mit.edu	37	17	21731352	21731352	+	Silent	SNP	C	C	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr17:21731352C>A	uc002gyy.3	+	1	779	c.654C>A	c.(652-654)ccC>ccA	p.P218P				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	0	Ubiquitin-like 3.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGAGTCGACCCTGCACCTGGT	0.552000													15	84					5.26018e-13	5.98075e-13	1	1	0
C3orf14	57415	broad.mit.edu	37	3	62317051	62317051	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr3:62317051C>T	uc003dlf.3	+	4	373	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	C3orf14_uc010hnq.3_Missense_Mutation_p.R77W|C3orf14_uc003dlg.3_Missense_Mutation_p.R77W	NM_020685	NP_065736	Q9HBI5	CC014_HUMAN	Homo sapiens chromosome 3 open reading frame 14 (C3orf14), mRNA.	77								p.R77W(2)		central_nervous_system(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		CCCACTTCCACGGCCTGAGGT	0.388000													17	102					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059041	79059041	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr15:79059041T>C	uc002bej.4	-	18	3423	c.3212A>G	c.(3211-3213)aAt>aGt	p.N1071S	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1071					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N1071S(8)|p.N1071N(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTCGTGGAAATTGATGAAATT	0.617000													5	49					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185947027	185947027	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:185947027G>A	uc001grq.1	+	15	2709	c.2480G>A	c.(2479-2481)cGa>cAa	p.R827Q	HMCN1_uc001grr.1_Missense_Mutation_p.R168Q	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	827	Ig-like C2-type 5.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATCAAATGGCGAAGATTAGAC	0.378000													13	91					0	0	1	0	0
EPHX2	2053	broad.mit.edu	37	8	27382881	27382881	+	Missense_Mutation	SNP	C	C	T	rs76549048		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr8:27382881C>T	uc003xfu.3	+	11	1142	c.1061C>T	c.(1060-1062)gCg>gTg	p.A354V	EPHX2_uc010lut.1_Missense_Mutation_p.A354V|EPHX2_uc010luv.3_Missense_Mutation_p.A288V|EPHX2_uc003xfv.3_Missense_Mutation_p.A301V|EPHX2_uc010luw.3_Missense_Mutation_p.A288V	NM_001979	NP_001970	P34913	HYES_HUMAN	Homo sapiens epoxide hydrolase 2, cytoplasmic (EPHX2), mRNA.	354	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	Golgi apparatus|cytosol|focal adhesion|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	p.A354V(2)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	TTCTGTAGGGCGGTGGCCAGT	0.463000													9	128					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147491350	147491350	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:147491350G>A	uc003lox.2	+	18	1785	c.1712G>A	c.(1711-1713)cGt>cAt	p.R571H	SPINK5_uc010jgs.1_Missense_Mutation_p.R543H|SPINK5_uc010jgr.2_Missense_Mutation_p.R552H|SPINK5_uc003low.2_Missense_Mutation_p.R571H|SPINK5_uc003loy.2_Missense_Mutation_p.R571H	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	571	Kazal-like 9.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	p.R571C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGAATATCGTCATTATGTG	0.433000													17	79					0	0	1	0	0
EGR1	1958	broad.mit.edu	37	5	137803725	137803725	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:137803725G>A	uc003ldb.1	+	1	1857	c.1587G>A	c.(1585-1587)tcG>tcA	p.S529S		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	529					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGGGCTTTCGGACATGACAG	0.512000													17	128					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117686238	117686238	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr6:117686238G>A	uc003pxp.1	-	19	3302	c.3103C>T	c.(3103-3105)Cga>Tga	p.R1035*	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1035	Fibronectin type-III 4.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R1035*(3)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCAGGTGCTCGAAGTGACAGA	0.378000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								13	81					0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57873149	57873149	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:57873149C>T	uc003hcl.1	+	9	1428	c.1385C>T	c.(1384-1386)gCc>gTc	p.A462V	POLR2B_uc011cae.1_Missense_Mutation_p.A455V|POLR2B_uc011caf.1_Missense_Mutation_p.A387V|POLR2B_uc003hcm.1_5'Flank	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	462					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GCTCATCAAGCCAGAGCTGGA	0.378000													10	58					0	0	1	0	0
LOC283922	283922	broad.mit.edu	37	16	74372644	74372644	+	Silent	SNP	A	A	G			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr16:74372644A>G	uc002fcr.2	-	8	1661	c.315T>C	c.(313-315)ccT>ccC	p.P105P	LOC283922_uc010vms.1_Non-coding_Transcript					Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit pseudogene (LOC283922), non-coding RNA.																		TACCCTTGTCAGGGGGAACAA	0.443000													4	35					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766794	57766794	+	Silent	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr20:57766794C>T	uc002yan.3	+	0	720	c.720C>T	c.(718-720)ggC>ggT	p.G240G		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	240						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGCACGAAGGCGCCTCGGAGA	0.687000													10	41					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15271630	15271630	+	Missense_Mutation	SNP	G	G	A	rs148716935		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr19:15271630G>A	uc002nan.3	-	32	6885	c.6809C>T	c.(6808-6810)aCg>aTg	p.T2270M		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	2270					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGGGCTAGGCGTGGATTCGGA	0.667000													6	109					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90106376	90106376	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:90106376G>T	uc003kju.3	+	73	15395	c.15299G>T	c.(15298-15300)aGg>aTg	p.R5100M	GPR98_uc003kjt.3_Missense_Mutation_p.R2806M|GPR98_uc003kjw.3_Missense_Mutation_p.R761M	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5100					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTAGAAATTAGGGGATTACAA	0.333000													10	122					0.000978159	0.000990088	1	1	0
TMEM151A	256472	broad.mit.edu	37	11	66063102	66063102	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:66063102G>A	uc001ohl.3	+	1	1497	c.1385G>A	c.(1384-1386)gGg>gAg	p.G462E		NM_153266	NP_694998	Q8N4L1	T151A_HUMAN	Homo sapiens transmembrane protein 151A (TMEM151A), mRNA.	462						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						GGCTGCCAGGGGGATGGGCAG	0.657000													4	27					0	0	1	0	0
CXCR1	3577	broad.mit.edu	37	2	219029298	219029298	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr2:219029298C>T	uc021vwq.1	-	0	637	c.637G>A	c.(637-639)Gtg>Atg	p.V213M	CXCR1_uc002vhc.3_Missense_Mutation_p.V213M|HV303425_uc021vwr.1_5'Flank	NM_000634	NP_000625	P25024	CXCR1_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA.	213					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	p.V213M(2)		endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						AACAGCGGCACGATGAAGCCA	0.522000													10	114					0	0	1	0	0
MAP3K3	4215	broad.mit.edu	37	17	61765935	61765935	+	Silent	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr17:61765935C>T	uc002jbg.3	+	8	1078	c.759C>T	c.(757-759)gaC>gaT	p.D253D	MAP3K3_uc002jbe.3_Silent_p.D284D|MAP3K3_uc002jbf.3_Silent_p.D284D|MAP3K3_uc002jbh.3_Silent_p.D280D|MAP3K3_uc010wpo.2_Silent_p.D168D|MAP3K3_uc010wpp.2_Silent_p.D249D	NM_002401	NP_002392	Q99759	M3K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 3 (MAP3K3), transcript variant 2, mRNA.	253					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCTTCCCTGACAACAGACAGG	0.537000													10	70					0	0	1	0	0
KRT27	342574	broad.mit.edu	37	17	38933849	38933849	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr17:38933849C>T	uc002hvg.3	-	5	1149	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	Homo sapiens keratin 27 (KRT27), mRNA.	370	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TGCTCATACTCGAGCTTCTGG	0.547000													31	220					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37169185	37169185	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:37169185T>C	uc011cpa.1	-	33	7172	c.6941A>G	c.(6940-6942)cAt>cGt	p.H2314R	C5orf42_uc011coy.1_Missense_Mutation_p.H814R|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.H1389R|C5orf42_uc003jkr.1_Missense_Mutation_p.H347R	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2314										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CAAGTTCACATGATTAGGAAT	0.373000													11	92					0	0	1	0	0
RTKN2	219790	broad.mit.edu	37	10	63957831	63957831	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr10:63957831T>C	uc001jlw.3	-	11	1763	c.1666A>G	c.(1666-1668)Atg>Gtg	p.M556V	RTKN2_uc009xpf.1_Intron|RTKN2_uc001jlv.3_Missense_Mutation_p.M210V	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	Homo sapiens rhotekin 2 (RTKN2), mRNA.	556					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GGAGCAGCCATTGGTTTCTGT	0.428000													15	75					0	0	1	0	0
MICB	4277	broad.mit.edu	37	6	31473999	31473999	+	Silent	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr6:31473999C>T	uc003ntn.4	+	2	521	c.405C>T	c.(403-405)taC>taT	p.Y135Y	MICB_uc011dnm.2_Silent_p.Y103Y|MICB_uc021yuq.1_Silent_p.Y103Y|MICB_uc003nto.4_Intron	NM_005931	NP_005922	Q29980	MICB_HUMAN	Homo sapiens MHC class I polypeptide-related sequence B (MICB), mRNA.	135					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	MHC class I protein complex|integral to plasma membrane	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						ATTTCTACTACGATGGGGAGC	0.552000													4	46					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97329663	97329663	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr3:97329663T>C	uc010how.1	+	12	2582	c.2539T>C	c.(2539-2541)Tat>Cat	p.Y847H	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_Missense_Mutation_p.Y213H|EPHA6_uc003drs.4_Missense_Mutation_p.Y239H|EPHA6_uc003drr.4_Missense_Mutation_p.Y239H|EPHA6_uc003drt.3_Missense_Mutation_p.Y239H|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	752	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGTGGTGGAATATATGGAGAA	0.373000													6	112					0	0	1	0	0
CDSN	1041	broad.mit.edu	37	6	31083952	31083952	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr6:31083952G>A	uc003nsm.2	-	1	1496	c.1440C>T	c.(1438-1440)tcC>tcT	p.S480S	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	480					cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						TGGCACCAGCGGAGGGATCAG	0.622000													9	52					0	0	1	0	0
C15orf54	400360	broad.mit.edu	37	15	39544388	39544388	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr15:39544388G>A	uc001zkg.2	+	1	420	c.52G>A	c.(52-54)Gct>Act	p.A18T	C15orf54_uc021sjb.1_Missense_Mutation_p.A18T	NM_207445	NP_997328	Q8N8G6	CO054_HUMAN	Homo sapiens chromosome 15 open reading frame 54 (C15orf54), mRNA.	18										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		ACCCCAGAGGGCTGAGCCGCA	0.468000													18	306					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40934551	40934551	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:40934551G>A	uc003jmh.3	+	3	377	c.263G>A	c.(262-264)cGt>cAt	p.R88H	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	88	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TGTGGAGAGCGTTTCAGGTGC	0.423000													27	170					0	0	1	0	0
PLEKHA1	59338	broad.mit.edu	37	10	124157455	124157455	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr10:124157455C>T	uc001lge.2	+	2	412	c.163C>T	c.(163-165)Cgt>Tgt	p.R55C	PLEKHA1_uc001lgf.2_Missense_Mutation_p.R55C|PLEKHA1_uc001lgg.2_Missense_Mutation_p.R55C	NM_001001974	NP_067635	Q9HB21	PKHA1_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 (PLEKHA1), transcript variant 2, mRNA.	55	PH 1.				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGATCATCACGTGTTGGAGC	0.299000													16	66					0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159842876	159842876	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:159842876G>A	uc001fui.3	-	10	1453	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Missense_Mutation_p.R394W|CCDC19_uc001fuj.3_Non-coding_Transcript	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	479						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			ACCTGGCGCCGGAGCTCATTG	0.612000													18	68					0	0	1	0	0
FAM169B	283777	broad.mit.edu	37	15	99023868	99023868	+	Missense_Mutation	SNP	G	G	A	rs141122936	by1000genomes	TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr15:99023868G>A	uc002buk.1	-	3	395	c.145C>T	c.(145-147)Cgt>Tgt	p.R49C		NM_182562	NP_872368	Q8N8A8	F169B_HUMAN	Homo sapiens family with sequence similarity 169, member B (FAM169B), mRNA.	49										large_intestine(3)|lung(3)|urinary_tract(1)	7						GCCGCTCCACGTCTCCACAGG	0.473000													9	131					0	0	1	0	0
TAS2R8	50836	broad.mit.edu	37	12	10959421	10959421	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr12:10959421G>A	uc010shh.2	-	0	159	c.159C>T	c.(157-159)atC>atT	p.I53I		NM_023918	NP_076407	Q9NYW2	TA2R8_HUMAN	Homo sapiens taste receptor, type 2, member 8 (TAS2R8), mRNA.	53					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AAATTCTGGCGATAACTAAAT	0.328000													19	137					0	0	1	0	0
ACTL8	81569	broad.mit.edu	37	1	18152414	18152414	+	Silent	SNP	C	C	T	rs114899155	byFrequency	TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:18152414C>T	uc001bat.3	+	2	717	c.501C>T	c.(499-501)ccC>ccT	p.P167P		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	167						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GCCCCTTGCCCGCCAGCGGCA	0.607000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	40					0	0	1	0	0
CD300E	342510	broad.mit.edu	37	17	72613303	72613303	+	Silent	SNP	T	T	C			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr17:72613303T>C	uc002jlb.2	-	1	479	c.342A>G	c.(340-342)tcA>tcG	p.S114S		NM_181449	NP_852114	Q496F6	CLM2_HUMAN	Homo sapiens CD300e molecule (CD300E), mRNA.	114	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity	p.S114L(1)		breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CGCGTGACCATGAATCCAGGA	0.547000													6	163					0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36045932	36045932	+	Silent	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr19:36045932C>T	uc002oal.1	-	15	2402	c.2373G>A	c.(2371-2373)ttG>ttA	p.L791L	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	791					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TGTTCTTGGTCAATGTGTAGG	0.572000													6	104					0	0	1	0	0
PI4KB	5298	broad.mit.edu	37	1	151265427	151265428	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:151265427_151265428insT	uc001exr.3	-	12	3026_3027	c.2387_2388insA	c.(2386-2388)cagfs	p.Q796fs	PI4KB_uc001exs.3_Frame_Shift_Ins_p.Q769fs|PI4KB_uc001exu.3_Frame_Shift_Ins_p.Q769fs|PI4KB_uc010pcw.2_Frame_Shift_Ins_p.Q452fs|PI4KB_uc001ext.3_Frame_Shift_Ins_p.Q784fs	NM_002651	NP_001185704	Q9UBF8	PI4KB_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA.	784				S -> G (in Ref. 4; BAG57793).	phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	Golgi apparatus|endosome|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCAGCTGCAGCTGCTCCTCAGT	0.550													19	76	---	---	---	---					
CLASP2	23122	broad.mit.edu	37	3	33602361	33602361	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr3:33602361delT	uc021wvc.1	-	27	3104	c.2893delA	c.(2893-2895)atgfs	p.M965fs	CLASP2_uc003cfs.3_Frame_Shift_Del_p.M164fs|CLASP2_uc021wva.1_Frame_Shift_Del_p.M39fs|CLASP2_uc021wvb.1_Frame_Shift_Del_p.M744fs|CLASP2_uc011axt.1_Frame_Shift_Del_p.M557fs	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	966										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TCAGCACCCATTTTTTTTAGT	0.343													7	187	---	---	---	---					
PDE12	201626	broad.mit.edu	37	3	57542756	57542757	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr3:57542756_57542757insT	uc003diw.4	+	0	776_777	c.650_651insT	c.(649-651)tctfs	p.S217fs	PDE12_uc003div.3_Frame_Shift_Ins_p.S217fs	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN	Homo sapiens phosphodiesterase 12 (PDE12), mRNA.	217							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TCGTCATTGTCTCCCTCCTCAC	0.594													43	275	---	---	---	---					
PROM1	8842	broad.mit.edu	37	4	15995680	15995680	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:15995680delT	uc003goo.2	-	14	1909	c.1697delA	c.(1696-1698)aatfs	p.N566fs	PROM1_uc003gor.2_Frame_Shift_Del_p.N566fs|PROM1_uc003gos.2_Frame_Shift_Del_p.N557fs|PROM1_uc003got.2_Frame_Shift_Del_p.N566fs|PROM1_uc003gou.2_Frame_Shift_Del_p.N557fs|PROM1_uc003gop.2_Frame_Shift_Del_p.N557fs|PROM1_uc003goq.3_Frame_Shift_Del_p.N557fs	NM_006017	NP_006008	O43490	PROM1_HUMAN	Homo sapiens prominin 1 (PROM1), transcript variant 1, mRNA.	566					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	p.N565N(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AGTGCCTCTATTTTTTTTGCA	0.428													8	170	---	---	---	---					
FRG1	2483	broad.mit.edu	37	4	190876218	190876219	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:190876218_190876219insAT	uc003izs.3	+	4	535_536	c.344_345insAT	c.(343-345)aaafs	p.K115fs		NM_004477	NP_004468	Q14331	FRG1_HUMAN	Homo sapiens FSHD region gene 1 (FRG1), mRNA.	115					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GGCTATGGAAAATATCTTGGTA	0.361													7	142	---	---	---	---					
PRDM15	63977	broad.mit.edu	37	21	43259793	43259794	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr21:43259793_43259794delTC	uc002yzq.1	-	13	2018_2019	c.1907_1908delGA	c.(1906-1908)agafs	p.R636fs	PRDM15_uc002yzo.3_Frame_Shift_Del_p.R307fs|PRDM15_uc002yzp.3_Frame_Shift_Del_p.R307fs|PRDM15_uc002yzr.1_Frame_Shift_Del_p.R307fs	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	636					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CTTTGGGTTTTCTCCCCCTTCG	0.599													17	394	---	---	---	---					
