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
SIGLEC12	89858	broad.mit.edu	37	19	52002831	52002831	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:52002831G>A	ENST00000291707.3	-	3	1003	c.948C>T	c.(946-948)tcC>tcT	p.S316S	SIGLEC12_ENST00000598614.1_Silent_p.S198S	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	316	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGGGGTCCAGGGAGGACACGG	0.667000													21	23					0	0	0.012319	0	0
MLNR	2862	broad.mit.edu	37	13	49795328	49795328	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr13:49795328C>T	ENST00000398307.1	+	1	855	c.855C>T	c.(853-855)gcC>gcT	p.A285A	MLNR_ENST00000218721.1_Silent_p.A285A			O43193	MTLR_HUMAN	motilin receptor	285					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		GAGGCCCGGCCGCCTCGGGGC	0.721000													22	8					0	0	0.010504	0	0
MYH8	4626	broad.mit.edu	37	17	10310224	10310224	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:10310224C>T	ENST00000403437.2	-	18	2132	c.2038G>A	c.(2038-2040)Gaa>Aaa	p.E680K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	680	Actin-binding.|Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GTTTTGGTTTCATTGGGAATG	0.378000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				22	22					0	0	0.007291	0	0
CPED1	79974	broad.mit.edu	37	7	120884389	120884389	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:120884389G>A	ENST00000310396.5	+	18	2774	c.2307G>A	c.(2305-2307)agG>agA	p.R769R	CPED1_ENST00000423795.1_Silent_p.R549R|CPED1_ENST00000450913.2_Silent_p.R769R	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		TGGGAGGAAGGAAGGTAGGTT	0.478000													37	33					0	0	0.006230	0	0
GLCE	26035	broad.mit.edu	37	15	69548401	69548401	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr15:69548401C>T	ENST00000261858.2	+	3	484	c.256C>T	c.(256-258)Cct>Tct	p.P86S	GLCE_ENST00000559420.2_Missense_Mutation_p.P22S	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	86					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						GAAAGCACCCCCTGTTGTTGG	0.433000													12	20					0	0	0.013537	0	0
OR7D2	162998	broad.mit.edu	37	19	9296981	9296981	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:9296981C>T	ENST00000344248.2	+	1	703	c.524C>T	c.(523-525)cCa>cTa	p.P175L		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	175					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TTTGAAATTCCACATTTTTTC	0.458000													55	68					0	0	0.014410	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15884920	15884920	+	RNA	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:15884920G>A	ENST00000587443.2	-	0	409					NR_033864.1													p.L48M(2)									TAGGGTTTCAGGATGTTGAAA	0.547000													7	9					0	0	0.003080	0	0
FAT1	2195	broad.mit.edu	37	4	187510159	187510159	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:187510159G>T	ENST00000441802.2	-	27	13563	c.13354C>A	c.(13354-13356)Ccg>Acg	p.P4452T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4452					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AATTCGGGCGGTAACGGTGGT	0.537000										HNSCC(5;0.00058)			160	176					1.33982e-74	2.78249e-74	0.014410	1	0
MAGEB6	158809	broad.mit.edu	37	X	26212939	26212939	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:26212939G>A	ENST00000379034.1	+	2	1125	c.976G>A	c.(976-978)Ggg>Agg	p.G326R		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	326	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TTCAATCTATGGGGATGCTCG	0.488000													79	12					0	0	0.014410	0	0
THSD7B	80731	broad.mit.edu	37	2	138169256	138169256	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:138169256G>A	ENST00000409968.1	+	14	2951	c.2773G>A	c.(2773-2775)Gaa>Aaa	p.E925K	THSD7B_ENST00000272643.3_Missense_Mutation_p.E925K|THSD7B_ENST00000413152.2_Missense_Mutation_p.E894K|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											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)		TCCTTGTGATGAATTTATATC	0.458000													42	58					0	0	0.007835	0	0
PASD1	139135	broad.mit.edu	37	X	150789427	150789427	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:150789427T>C	ENST00000370357.4	+	5	478	c.233T>C	c.(232-234)tTa>tCa	p.L78S		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	78	PAS.					nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AAAAAATTATTAAGCCTTCTG	0.383000													29	26					0	0	0.006230	0	0
MYOM2	9172	broad.mit.edu	37	8	2020445	2020445	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr8:2020445C>T	ENST00000262113.4	+	9	955	c.814C>T	c.(814-816)Ccg>Tcg	p.P272S	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	272	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATCGATGATTCCGTACACGCA	0.582000													26	29					0	0	0.004656	0	0
ASTN1	460	broad.mit.edu	37	1	176903435	176903435	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:176903435G>A	ENST00000367654.2	-	16	2561	c.2548C>T	c.(2548-2550)Cgt>Tgt	p.R850C	ASTN1_ENST00000361833.2_Missense_Mutation_p.R842C|ASTN1_ENST00000424564.2_Missense_Mutation_p.R842C|ASTN1_ENST00000367657.3_Missense_Mutation_p.R842C			O14525	ASTN1_HUMAN	astrotactin 1	850					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AAATCTGCACGAGATGTAGCC	0.507000													17	18					0	0	0.008871	0	0
CR1	1378	broad.mit.edu	37	1	207741217	207741217	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:207741217G>A	ENST00000367049.4	+	25	4001	c.4001G>A	c.(4000-4002)gGa>gAa	p.G1334E	CR1_ENST00000367051.1_Missense_Mutation_p.G884E|CR1_ENST00000367053.1_Missense_Mutation_p.G884E|CR1_ENST00000367052.1_Intron|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.G884E	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	884	Sushi 21.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGACACACAGGAAAACCTCTG	0.453000													35	42					0	0	0.007835	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133666258	133666258	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr3:133666258C>T	ENST00000310926.4	-	9	1410	c.1137G>A	c.(1135-1137)ggG>ggA	p.G379G	SLCO2A1_ENST00000493729.1_Silent_p.G303G	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	379					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						CAAACAGCATCCCCAAGGCTG	0.517000													17	0					0	0	0.004990	0	0
KCNB2	9312	broad.mit.edu	37	8	73849501	73849501	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr8:73849501C>T	ENST00000523207.1	+	3	2499	c.1911C>T	c.(1909-1911)ctC>ctT	p.L637L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	637					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CAACCGACCTCCCAGGGACAG	0.602000													37	59					0	0	0.007835	0	0
KCNQ3	3786	broad.mit.edu	37	8	133192441	133192441	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr8:133192441C>T	ENST00000388996.4	-	4	1160	c.740G>A	c.(739-741)tGg>tAg	p.W247*	KCNQ3_ENST00000519445.1_Nonsense_Mutation_p.W247*|KCNQ3_ENST00000521134.1_Nonsense_Mutation_p.W127*	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	247					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.W247*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CAGAAGCTTCCAGGTGCCACC	0.597000													38	49					0	0	0.005524	0	0
IQSEC3	440073	broad.mit.edu	37	12	248380	248380	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:248380C>T	ENST00000538872.1	+	4	1969	c.1851C>T	c.(1849-1851)gcC>gcT	p.A617A	RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Silent_p.A617A|IQSEC3_ENST00000382841.2_Silent_p.A314A			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	617					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CGGCCTCCGCCTCCAAGGACG	0.692000													4	5					0	0	0.009096	0	0
PKD1	5310	broad.mit.edu	37	16	2140376	2140376	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr16:2140376G>A	ENST00000262304.4	-	45	12562	c.12354C>T	c.(12352-12354)taC>taT	p.Y4118Y	PKD1_ENST00000423118.1_Silent_p.Y4117Y	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4118					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGGCCGGCCGGTACAGCTCTC	0.672000													23	34					0	0	0.005443	0	0
SCN11A	11280	broad.mit.edu	37	3	38936144	38936144	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr3:38936144C>T	ENST00000450244.1	-	15	2913	c.2715G>A	c.(2713-2715)aaG>aaA	p.K905K	SCN11A_ENST00000444237.2_Silent_p.K905K|SCN11A_ENST00000456224.3_Silent_p.K905K|SCN11A_ENST00000302328.3_Silent_p.K905K			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	905					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			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)	CGCCCAGGGTCTTTGGTACAG	0.512000													28	77					0	0	0.006320	0	0
ZC3H4	23211	broad.mit.edu	37	19	47575047	47575047	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:47575047G>A	ENST00000253048.5	-	13	2171	c.2134C>T	c.(2134-2136)Ctg>Ttg	p.L712L	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	712							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCATCCCCCAGGAGTCCGGGC	0.577000													17	29					0	0	0.004007	0	0
WDR33	55339	broad.mit.edu	37	2	128520638	128520638	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:128520638C>T	ENST00000322313.4	-	7	880	c.722G>A	c.(721-723)cGa>cAa	p.R241Q	WDR33_ENST00000409658.3_3'UTR|WDR33_ENST00000393006.1_Missense_Mutation_p.R241Q	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	241					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		ACACGTACCTCGGAGAATTCT	0.398000													22	36					0	0	0.012319	0	0
PYHIN1	149628	broad.mit.edu	37	1	158906944	158906944	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:158906944C>T	ENST00000368140.1	+	2	489	c.244C>T	c.(244-246)Ctt>Ttt	p.L82F	PYHIN1_ENST00000392254.2_Missense_Mutation_p.L82F|PYHIN1_ENST00000368135.4_Missense_Mutation_p.L82F|PYHIN1_ENST00000368138.3_Missense_Mutation_p.L82F|PYHIN1_ENST00000392252.3_Missense_Mutation_p.L82F	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	82	DAPIN.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TGCTGAAACTCTTAAAAGAGA	0.458000													19	28					0	0	0.006122	0	0
PRDM2	7799	broad.mit.edu	37	1	14107071	14107071	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:14107071C>T	ENST00000235372.7	+	8	3637	c.2781C>T	c.(2779-2781)ctC>ctT	p.L927L	PRDM2_ENST00000343137.4_Silent_p.L726L|PRDM2_ENST00000311066.5_Silent_p.L927L|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Silent_p.L726L|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	927						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ATCCTGACCTCGGTCCGGGCT	0.532000													63	74					0	0	0.014410	0	0
SCN1A	6323	broad.mit.edu	37	2	166898891	166898891	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:166898891G>A	ENST00000423058.2	-	12	2104	c.2087C>T	c.(2086-2088)tCt>tTt	p.S696F	SCN1A_ENST00000409050.1_Missense_Mutation_p.S668F|SCN1A_ENST00000375405.3_Missense_Mutation_p.S685F|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.S696F|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	696						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S685Y(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AACGTGGAAAGAACTTGACCT	0.363000													17	28					0	0	0.004990	0	0
GPR116	221395	broad.mit.edu	37	6	46874490	46874490	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:46874490G>A	ENST00000283296.7	-	2	298	c.10C>T	c.(10-12)Cca>Tca	p.P4S	GPR116_ENST00000265417.7_Missense_Mutation_p.P4S|GPR116_ENST00000362015.4_Missense_Mutation_p.P4S|RP3-365O12.2_ENST00000451135.1_RNA|GPR116_ENST00000456426.2_Missense_Mutation_p.P4S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	4					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GTTCTCCTTGGGGATTTCATG	0.368000													21	46					0	0	0.014323	0	0
KLKB1	3818	broad.mit.edu	37	4	187179233	187179233	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:187179233T>A	ENST00000264690.6	+	15	1971	c.1784T>A	c.(1783-1785)aTc>aAc	p.I595N	KLKB1_ENST00000513864.1_Missense_Mutation_p.H548Q	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	595	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TTGGTGGGCATCACCAGCTGG	0.483000													52	76					0	0	0.014410	0	0
KRT13	3860	broad.mit.edu	37	17	39659341	39659341	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:39659341C>T	ENST00000246635.3	-	4	791	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	KRT13_ENST00000587544.1_Missense_Mutation_p.E249K|KRT13_ENST00000336861.3_Missense_Mutation_p.E249K	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	249	Coil 1B.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TTGCTAAATTCCTTCATCTCC	0.567000													108	125					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179446810	179446810	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:179446810C>T	ENST00000589042.1	-	315	66510	c.66286G>A	c.(66286-66288)Gaa>Aaa	p.E22096K	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E13031K|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E20455K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E19528K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E13223K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E13156K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20455	Fibronectin type-III 60.						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)			GCCTGGGTTTCCCGCTTTTCA	0.438000													12	51					0	0	0.001855	0	0
AOAH	313	broad.mit.edu	37	7	36616230	36616230	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:36616230C>T	ENST00000431169.1	-	13	1271	c.971G>A	c.(970-972)tGg>tAg	p.W324*	AOAH_ENST00000538464.1_Nonsense_Mutation_p.W46*|AOAH_ENST00000535891.1_Nonsense_Mutation_p.W292*|AOAH_ENST00000258749.5_Nonsense_Mutation_p.W324*	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	324					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GTTTCTTTTCCATAAGCGAAG	0.308000													25	44					0	0	0.008361	0	0
ADRBK2	157	broad.mit.edu	37	22	25961064	25961064	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr22:25961064G>A	ENST00000324198.5	+	1	249	c.57G>A	c.(55-57)aaG>aaA	p.K19K		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	19	N-terminal.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	CCATGGAGAAGAGCAAGGCGA	0.726000													11	18					0	0	0.003163	0	0
GPR110	266977	broad.mit.edu	37	6	46977054	46977054	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:46977054C>T	ENST00000371253.2	-	11	2332	c.2117G>A	c.(2116-2118)gGt>gAt	p.G706D	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.G509D	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	706					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GCACCCATAACCCAGGCAAAA	0.473000													22	40					0	0	0.014323	0	0
KRT77	374454	broad.mit.edu	37	12	53096962	53096962	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:53096962C>T	ENST00000341809.3	-	1	285	c.257G>A	c.(256-258)gGg>gAg	p.G86E	KRT77_ENST00000537195.1_5'UTR	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	86	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CCCTACTCCCCCACCCTGGCA	0.587000													13	3					0	0	0.013537	0	0
TRIM28	10155	broad.mit.edu	37	19	59057159	59057159	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:59057159C>T	ENST00000253024.5	+	3	771	c.482C>T	c.(481-483)cCa>cTa	p.P161L	TRIM28_ENST00000341753.6_Intron	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	161	RBCC domain.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GATAATGCCCCAGCCACCAGC	0.537000													37	31					0	0	0.007835	0	0
BCAS1	8537	broad.mit.edu	37	20	52583470	52583470	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr20:52583470G>A	ENST00000395961.3	-	9	1491	c.1325C>T	c.(1324-1326)tCt>tTt	p.S442F	BCAS1_ENST00000371435.2_Intron|BCAS1_ENST00000371440.3_Missense_Mutation_p.S473F|BCAS1_ENST00000434986.2_Intron	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	442						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CGCCATCAGAGAGGTTCTTGG	0.473000													98	109					0	0	0.014410	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162588	33162588	+	RNA	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr5:33162588C>T	ENST00000510327.1	-	0	346																											AGAATTGCATCGTGCTCATCG	0.512000													9	12					0	0	0.004482	0	0
TECTB	6975	broad.mit.edu	37	10	114044417	114044417	+	Silent	SNP	T	T	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:114044417T>C	ENST00000369422.3	+	2	201	c.201T>C	c.(199-201)ggT>ggC	p.G67G		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	67	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		ACGAAGGAGGTTACTACCAAT	0.483000													7	11					0	0	0.001984	0	0
RGPD4	285190	broad.mit.edu	37	2	108496562	108496562	+	Splice_Site	SNP	A	A	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:108496562A>G	ENST00000408999.3	+	21	5140	c.5064_splice	c.e21+1	p.K1688_splice	RGPD4_ENST00000354986.4_Splice_Site_p.K1688_splice	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1688					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GAGCAAATTAAGGTGAGATCA	0.453000													106	79					0	0	0.014410	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070915	141070915	+	RNA	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr9:141070915C>T	ENST00000503395.1	+	0	1690																		p.T178T(1)									TGTCAGACACCGTGGTGGAGC	0.522000													5	33					0	0	0.003080	0	0
CDH23	64072	broad.mit.edu	37	10	73326627	73326627	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:73326627C>T	ENST00000224721.6	+	6	578	c.573C>T	c.(571-573)atC>atT	p.I191I	CDH23_ENST00000299366.7_Silent_p.I231I|CDH23_ENST00000461841.3_Silent_p.I231I|CDH23_ENST00000398809.4_Silent_p.I186I|CDH23_ENST00000398842.3_Silent_p.I186I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	186	Cadherin 2.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCCGCGGTATCGTCACAGTGA	0.647000													20	24					0	0	0.010504	0	0
NRXN1	9378	broad.mit.edu	37	2	50573968	50573968	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:50573968G>A	ENST00000342183.5	-	1	924	c.120C>T	c.(118-120)acC>acT	p.T40T	NRXN1_ENST00000404971.1_Intron|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000331040.5_Intron|NRXN1_ENST00000401669.2_Intron|NRXN1_ENST00000406316.2_Intron|NRXN1_ENST00000401710.1_Intron|NRXN1_ENST00000402717.3_Intron|NRXN1_ENST00000405472.3_Intron	NM_138735.2	NP_620072.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	0	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGCCGCTGAGGGTGAGCGGGA	0.716000													14	12					0	0	0.001855	0	0
SLC5A7	60482	broad.mit.edu	37	2	108604737	108604737	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:108604737C>T	ENST00000264047.2	+	2	402	c.126C>T	c.(124-126)atC>atT	p.I42I	SLC5A7_ENST00000540517.1_Intron|SLC5A7_ENST00000409059.1_Silent_p.I42I	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	42					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GCGAAGCCATCATAGTTGGTG	0.507000													24	36					0	0	0.003330	0	0
KLF4	9314	broad.mit.edu	37	9	110248119	110248119	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr9:110248119C>T	ENST00000374672.4	-	5	1826	c.1353G>A	c.(1351-1353)acG>acA	p.T451T		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	485					fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GGCGGTGCCCCGTGTGTTTAC	0.527000													45	1					0	0	0.009718	0	0
ZZEF1	23140	broad.mit.edu	37	17	4015961	4015961	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:4015961G>A	ENST00000381638.2	-	5	1132	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	336	DOC.						calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CATTGCTGGGGATGTGCACAT	0.537000													16	30					0	0	0.004007	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274365	39274365	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:39274365C>T	ENST00000391413.2	-	1	241	c.203G>A	c.(202-204)aGa>aAa	p.R68K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	68	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GATGCAGCATCTGGGGCGGCA	0.662000													22	38					0	0	0.012319	0	0
ZNF512	84450	broad.mit.edu	37	2	27824259	27824259	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:27824259C>T	ENST00000355467.4	+	7	702	c.619C>T	c.(619-621)Cgt>Tgt	p.R207C	ZNF512_ENST00000379717.1_Missense_Mutation_p.R206C|ZNF512_ENST00000416005.2_Missense_Mutation_p.R178C|ZNF512_ENST00000413371.2_Missense_Mutation_p.R130C|ZNF512_ENST00000556601.1_Missense_Mutation_p.R76C|RP11-158I13.2_ENST00000505973.1_RNA			Q96ME7	ZN512_HUMAN	zinc finger protein 512	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					GAAACAACTTCGTTCACTGGC	0.378000													60	54					0	0	0.014410	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067105	18067105	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:18067105C>T	ENST00000506618.2	-	1	381	c.301G>A	c.(301-303)Gat>Aat	p.D101N		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	101					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CGGCTCTTATCCTTCTTATCC	0.463000													63	88					0	0	0.014410	0	0
KPRP	448834	broad.mit.edu	37	1	152732689	152732689	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:152732689C>T	ENST00000368773.1	+	2	683	c.625C>T	c.(625-627)Cag>Tag	p.Q209*	KPRP_ENST00000606109.1_Nonsense_Mutation_p.Q209*	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	209	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCCAGTTCCAGTTGAGGCC	0.567000													87	83					0	0	0.014410	0	0
VSTM4	196740	broad.mit.edu	37	10	50255069	50255069	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:50255069G>A	ENST00000332853.3	-	7	819	c.796C>T	c.(796-798)Cat>Tat	p.H266Y		NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	266						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						TTCGGTTTATGGAACGTGGGG	0.478000													73	108					0	0	0.014410	0	0
OR2W5	441932	broad.mit.edu	37	1	247655377	247655377	+	RNA	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:247655377G>A	ENST00000522351.1	+	0	1008							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-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)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GAGCCTCAACGAGGGGAACAC	0.498000													29	41					0	0	0.007291	0	0
OSMR	9180	broad.mit.edu	37	5	38876401	38876401	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr5:38876401C>T	ENST00000274276.3	+	3	574	c.172C>T	c.(172-174)Cct>Tct	p.P58S	OSMR_ENST00000502536.1_Missense_Mutation_p.P58S	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	58					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CCACAACCTTCCTTATCATCA	0.388000													21	20					0	0	0.010504	0	0
CLEC18B	497190	broad.mit.edu	37	16	74446934	74446934	+	Splice_Site	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr16:74446934C>T	ENST00000339953.5	-	5	798		c.e5+1			NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B							extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CATGCACTCACCACAGAGCCC	0.607000													26	3					0	0	0.008361	0	0
RAB9B	51209	broad.mit.edu	37	X	103080312	103080312	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:103080312T>G	ENST00000243298.2	-	3	687	c.403A>C	c.(403-405)Act>Cct	p.T135P		NM_016370.2	NP_057454.1	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	135					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						GCCTCCTCAGTAGTCACTTGC	0.438000													75	153					0	0	0.014410	0	0
PCLO	27445	broad.mit.edu	37	7	82583350	82583350	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:82583350C>T	ENST00000423517.2	-	5	7256	c.6919G>A	c.(6919-6921)Gaa>Aaa	p.E2307K	PCLO_ENST00000333891.8_Missense_Mutation_p.E2307K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2238	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCCCAGTTTCCTTCTTGGCT	0.418000													55	72					0	0	0.014410	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44799042	44799042	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:44799042A>G	ENST00000309315.4	+	7	1099	c.976A>G	c.(976-978)Acg>Gcg	p.T326A	ZMIZ2_ENST00000441627.1_Missense_Mutation_p.T326A|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.T294A|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.T294A|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.T326A	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	326	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTGGCCCCACGGGACTGCA	0.701000													15	27					0	0	0.003163	0	0
GPR110	266977	broad.mit.edu	37	6	46977447	46977447	+	Missense_Mutation	SNP	G	G	C	rs138703993		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:46977447G>C	ENST00000371253.2	-	11	1939	c.1724C>G	c.(1723-1725)cCt>cGt	p.P575R	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.P378R	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	575	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GGGGACAAAAGGTGACATCAA	0.468000													35	37					0	0	0.009718	0	0
ZFAND2A	90637	broad.mit.edu	37	7	1195144	1195144	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:1195144A>G	ENST00000401903.1	-	4	486	c.227T>C	c.(226-228)gTt>gCt	p.V76A	ZFAND2A_ENST00000316495.3_Missense_Mutation_p.V76A			Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	76						cytoplasm|nucleus	zinc ion binding			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		GTGATCACCAACCACCACGTC	0.493000													51	70					0	0	0.014410	0	0
GK2	2712	broad.mit.edu	37	4	80328516	80328516	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:80328516C>T	ENST00000358842.3	-	1	856	c.839G>A	c.(838-840)gGa>gAa	p.G280E		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	280					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GCAACCTGTTCCATAGGTGTT	0.473000													53	56					0	0	0.014410	0	0
TRBV25-1	28562	broad.mit.edu	37	7	142378967	142378967	+	RNA	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:142378967C>T	ENST00000390398.3	+	0	272																											GAAGGGAGATCTTTCCTCTGA	0.488000													30	45					0	0	0.012213	0	0
LDB2	9079	broad.mit.edu	37	4	16504280	16504280	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:16504280G>A	ENST00000304523.5	-	8	1431	c.1108C>T	c.(1108-1110)Cag>Tag	p.Q370*	RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000502640.1_3'UTR|LDB2_ENST00000515064.1_Nonsense_Mutation_p.Q368*|LDB2_ENST00000441778.2_3'UTR	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	370							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TGGGAAGCCTGGGGTGGGGGG	0.507000													129	144					0	0	0.014410	0	0
CEACAM4	1089	broad.mit.edu	37	19	42133304	42133304	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:42133304C>T	ENST00000221954.2	-	1	138	c.28G>A	c.(28-30)Gga>Aga	p.G10R	CEACAM4_ENST00000600925.1_Missense_Mutation_p.G10R	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	10						integral to plasma membrane|membrane fraction		p.G10R(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CTGTGCCCTCCACGGGGAGCG	0.647000													9	20					0	0	0.008291	0	0
SCNN1A	6337	broad.mit.edu	37	12	6471234	6471234	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:6471234C>G	ENST00000358945.3	-	3	1298	c.858G>C	c.(856-858)caG>caC	p.Q286H	SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000228916.2_Missense_Mutation_p.Q286H|SCNN1A_ENST00000396966.2_Missense_Mutation_p.Q286H|SCNN1A_ENST00000543768.1_Missense_Mutation_p.Q309H|SCNN1A_ENST00000540037.1_5'UTR|SCNN1A_ENST00000360168.3_Missense_Mutation_p.Q345H			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	286					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	TGCAGGAGACCTGGTTGAAGC	0.637000													33	57					0	0	0.004878	0	0
MYO1A	4640	broad.mit.edu	37	12	57430736	57430736	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:57430736C>T	ENST00000442789.2	-	21	2482	c.2195G>A	c.(2194-2196)cGg>cAg	p.R732Q	MYO1A_ENST00000300119.3_Missense_Mutation_p.R732Q|MYO1A_ENST00000544473.1_Missense_Mutation_p.R570Q	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	732	IQ 2.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.R732L(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CATGTTTCCCCGAAACCAAGA	0.512000													55	97					0	0	0.014410	0	0
C15orf59	388135	broad.mit.edu	37	15	74032299	74032299	+	Missense_Mutation	SNP	G	G	A	rs149206275	byFrequency	TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr15:74032299G>A	ENST00000569673.1	-	3	2045	c.841C>T	c.(841-843)Ccc>Tcc	p.P281S	C15orf59_ENST00000379822.4_Missense_Mutation_p.P281S|C15orf59_ENST00000558834.1_5'UTR			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	281										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCTGTGTAGGGCAGAACCGTC	0.567000													89	116					0	0	0.014410	0	0
CIDEC	63924	broad.mit.edu	37	3	9911928	9911928	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr3:9911928C>T	ENST00000336832.2	-	4	425	c.286G>A	c.(286-288)Gag>Aag	p.E96K	CIDEC_ENST00000423850.1_Missense_Mutation_p.E22K|CIDEC_ENST00000430427.1_Missense_Mutation_p.E106K|CIDEC_ENST00000383817.1_Intron|CIDEC_ENST00000455015.1_Missense_Mutation_p.E22K|CIDEC_ENST00000443115.1_Intron	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	96	CIDE-N.				apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					TGGAAGTACTCTTCTGTCTCT	0.557000													30	82					0	0	0.010818	0	0
AC015849.16	0	broad.mit.edu	37	17	34236331	34236331	+	RNA	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:34236331G>A	ENST00000587132.1	-	0	1696																											TCTTTTTCAGGGGTGTAGAAT	0.473000													16	41					0	0	0.004990	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135264979	135264979	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:135264979G>A	ENST00000265605.2	-	2	332	c.264C>T	c.(262-264)gcC>gcT	p.A88A	ALDH8A1_ENST00000367845.2_Silent_p.A88A|ALDH8A1_ENST00000367847.2_Silent_p.A88A	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	88					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		ACTCGGCCTGGGCAAACTCCT	0.567000													51	4					0	0	0.014410	0	0
CCKBR	887	broad.mit.edu	37	11	6292484	6292484	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:6292484C>T	ENST00000525462.1	+	4	1265	c.1262C>T	c.(1261-1263)gCc>gTc	p.A421V	CCKBR_ENST00000532715.1_Missense_Mutation_p.A268V|CCKBR_ENST00000334619.2_Missense_Mutation_p.A352V			P32239	GASR_HUMAN	cholecystokinin B receptor	352					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GTTTATAGTGCCAACACGTGG	0.577000													36	43					0	0	0.005524	0	0
CASKIN2	57513	broad.mit.edu	37	17	73498951	73498951	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:73498951C>T	ENST00000321617.3	-	18	2790	c.2204G>A	c.(2203-2205)gGc>gAc	p.G735D	CASKIN2_ENST00000433559.2_Missense_Mutation_p.G653D	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	735	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCGCTCTGTGCCCTCTGGGAG	0.657000													12	48					0	0	0.001855	0	0
MUC16	94025	broad.mit.edu	37	19	9088904	9088904	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:9088904T>C	ENST00000397910.4	-	1	3114	c.2911A>G	c.(2911-2913)Agt>Ggt	p.S971G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	971	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						AATCTGGGACTAGTCTCTGGC	0.463000													94	139					0	0	0.014410	0	0
OTOF	9381	broad.mit.edu	37	2	26702497	26702497	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:26702497C>T	ENST00000272371.2	-	17	2063	c.1937G>A	c.(1936-1938)gGc>gAc	p.G646D	OTOF_ENST00000403946.3_Missense_Mutation_p.G646D	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	646					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGGGACAGGCCATCAACTTC	0.637000													32	32					0	0	0.004878	0	0
GBA3	57733	broad.mit.edu	37	4	22820513	22820513	+	RNA	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:22820513C>T	ENST00000508264.1	+	0	335				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.1_RNA			Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AAGCCAAGATCATCCGAAACA	0.493000													9	7					0	0	0.006214	0	0
DIAPH2	1730	broad.mit.edu	37	X	96724732	96724732	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:96724732C>T	ENST00000355827.4	+	27	3677	c.3281C>T	c.(3280-3282)tCa>tTa	p.S1094L	DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373049.4_Missense_Mutation_p.S1094L|DIAPH2_ENST00000324765.8_Intron|DIAPH2-AS1_ENST00000439759.1_RNA|DIAPH2_ENST00000373061.3_Intron	NM_007309.3	NP_009293.1	O60879	DIAP2_HUMAN	diaphanous-related formin 2	0					cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AATCCAAGATCAGCTACATAA	0.323000													14	30					0	0	0.004990	0	0
CHAT	1103	broad.mit.edu	37	10	50859978	50859978	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:50859978G>A	ENST00000395562.2	+	12	1783	c.1314G>A	c.(1312-1314)ggG>ggA	p.G438G	CHAT_ENST00000455728.2_Silent_p.G402G|CHAT_ENST00000351556.3_Silent_p.G402G|CHAT_ENST00000337653.2_Silent_p.G520G|CHAT_ENST00000395559.2_Silent_p.G402G|CHAT_ENST00000339797.1_Silent_p.G402G	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	520					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.G520G(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	ACAACTATGGGAAAACATTCA	0.413000													17	21					0	0	0.004990	0	0
XKR3	150165	broad.mit.edu	37	22	17264815	17264815	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr22:17264815C>T	ENST00000331428.5	-	4	1176	c.1074G>A	c.(1072-1074)atG>atA	p.M358I		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	358						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ATACCAATATCATTATCACAT	0.403000													18	21					0	0	0.003954	0	0
KLHL18	23276	broad.mit.edu	37	3	47378198	47378198	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr3:47378198C>T	ENST00000232766.5	+	7	1092	c.1072C>T	c.(1072-1074)Ccg>Tcg	p.P358S	KLHL18_ENST00000455924.2_Missense_Mutation_p.P246S	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	358										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GGCCTACAACCCGGAGACAGA	0.592000													28	30					0	0	0.009535	0	0
OR13H1	347468	broad.mit.edu	37	X	130678968	130678968	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:130678968G>A	ENST00000338616.3	+	1	1019	c.921G>A	c.(919-921)agG>agA	p.R307R		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TGTTGAAAAGGACATGAGCCT	0.378000													16	18					0	0	0.003163	0	0
KCNH5	27133	broad.mit.edu	37	14	63447647	63447647	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr14:63447647G>A	ENST00000322893.7	-	6	1153	c.885C>T	c.(883-885)atC>atT	p.I295I	KCNH5_ENST00000420622.2_Silent_p.I295I|KCNH5_ENST00000394968.1_Silent_p.I237I|KCNH5_ENST00000394964.2_Silent_p.I237I	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	295					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACAGCAGATCGATCACAAACC	0.403000													14	2					0	0	0.002450	0	0
C16orf78	123970	broad.mit.edu	37	16	49430453	49430453	+	Missense_Mutation	SNP	A	A	G	rs142390164	by1000genomes	TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr16:49430453A>G	ENST00000299191.3	+	4	631	c.514A>G	c.(514-516)Acc>Gcc	p.T172A		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	172										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						CCAGAGGGCAACCTTCATAAG	0.498000													23	47					0	0	0.003330	0	0
SCN10A	6336	broad.mit.edu	37	3	38768112	38768112	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr3:38768112C>T	ENST00000449082.2	-	16	3071	c.3072G>A	c.(3070-3072)gtG>gtA	p.V1024V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1024					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)	CTTTGGGGATCACTTCCTGCT	0.542000													41	35					0	0	0.014410	0	0
DRC1	92749	broad.mit.edu	37	2	26676285	26676285	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:26676285G>A	ENST00000288710.2	+	14	1861	c.1787G>A	c.(1786-1788)gGa>gAa	p.G596E		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		gagatggagggagaaaaggaa	0.572000													39	46					0	0	0.005524	0	0
FRAS1	80144	broad.mit.edu	37	4	79321903	79321903	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:79321903C>T	ENST00000264895.6	+	30	4431	c.3991C>T	c.(3991-3993)Cag>Tag	p.Q1331*	FRAS1_ENST00000325942.6_Nonsense_Mutation_p.Q1331*	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1330					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAGGGGTCTTCAGCTTGTGGC	0.428000													7	20					0	0	0.004482	0	0
MERTK	10461	broad.mit.edu	37	2	112760692	112760692	+	Missense_Mutation	SNP	G	G	A	rs143925029		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:112760692G>A	ENST00000295408.4	+	12	1971	c.1714G>A	c.(1714-1716)Gaa>Aaa	p.E572K	MERTK_ENST00000409780.1_Missense_Mutation_p.E396K|MERTK_ENST00000421804.2_Missense_Mutation_p.E572K			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	572					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						AGTCAGTGAGGAACTACAAAA	0.303000													68	82					0	0	0.014410	0	0
MAST3	23031	broad.mit.edu	37	19	18260381	18260381	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:18260381C>G	ENST00000262811.5	+	27	3775	c.3775C>G	c.(3775-3777)Cgc>Ggc	p.R1259G	AC007192.6_ENST00000600364.1_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	1259							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CCTGTCCGAGCGCCGAGACTC	0.692000													5	6					0	0	0.000602	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(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)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			62	100					2.53126e-37	5.23511e-37	0.014410	1	0
PKDREJ	10343	broad.mit.edu	37	22	46658241	46658241	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr22:46658241C>G	ENST00000253255.5	-	1	978	c.979G>C	c.(979-981)Gtc>Ctc	p.V327L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	327	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CAGACATAGACGGCGTCCGAG	0.527000													108	111					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179596978	179596978	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:179596978A>T	ENST00000589042.1	-	57	16942	c.16718T>A	c.(16717-16719)aTt>aAt	p.I5573N	TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.I5256N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I4329N|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5256	Ig-like 36.						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)			TGTTATTTTAATTGGAGGGGT	0.418000													14	21					0	0	0.001855	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883961	19883961	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr16:19883961G>A	ENST00000300571.2	-	2	398	c.207C>T	c.(205-207)atC>atT	p.I69I	GPRC5B_ENST00000569847.1_Silent_p.I69I|GPRC5B_ENST00000569479.1_Silent_p.I69I|GPRC5B_ENST00000537135.1_Silent_p.I95I|GPRC5B_ENST00000535671.1_Silent_p.I69I	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	69										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGAGCAGTGTGATCAGGGCGC	0.642000													42	34					0	0	0.014410	0	0
GRHL1	29841	broad.mit.edu	37	2	10105488	10105488	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:10105488G>A	ENST00000324907.9	+	8	1224	c.1088G>A	c.(1087-1089)tGg>tAg	p.W363*	GRHL1_ENST00000405379.2_Nonsense_Mutation_p.W363*|GRHL1_ENST00000324883.5_Nonsense_Mutation_p.W174*	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	363					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TCCTTCACATGGGACATCAAC	0.438000													25	37					0	0	0.004656	0	0
NNMT	4837	broad.mit.edu	37	11	114182986	114182986	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:114182986G>A	ENST00000535401.1	+	5	846	c.582G>A	c.(580-582)gtG>gtA	p.V194V	NNMT_ENST00000542647.1_5'UTR|NNMT_ENST00000541754.1_5'UTR|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000299964.3_Silent_p.V194V|NNMT_ENST00000545255.1_5'UTR			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	194					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	GCTTCCTGGTGATCATGGATG	0.612000													32	5					0	0	0.009535	0	0
FAM170A	340069	broad.mit.edu	37	5	118970422	118970422	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr5:118970422G>A	ENST00000515256.1	+	3	1151	c.979G>A	c.(979-981)Gac>Aac	p.D327N				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	327						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						TTCTCCAAAGGACAGGAAGTG	0.562000													46	4					0	0	0.013114	0	0
PCLO	27445	broad.mit.edu	37	7	82453631	82453631	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:82453631G>A	ENST00000423517.2	-	19	14854	c.14517C>T	c.(14515-14517)tcC>tcT	p.S4839S	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Silent_p.S4839S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4701					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S4839S(2)		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						TGCTCTGACTGGAATGAGACT	0.423000													14	17					0	0	0.003163	0	0
KIAA0319	9856	broad.mit.edu	37	6	24563610	24563610	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:24563610C>T	ENST00000535378.1	-	17	3183	c.2541G>A	c.(2539-2541)aaG>aaA	p.K847K	KIAA0319_ENST00000378214.3_Silent_p.K856K|KIAA0319_ENST00000430948.2_Silent_p.K811K|KIAA0319_ENST00000537886.1_Silent_p.K856K|KIAA0319_ENST00000543707.1_Silent_p.K856K	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	856					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GGGCCCGAATCTTCTGGACCT	0.567000													21	27					0	0	0.014323	0	0
ALMS1	7840	broad.mit.edu	37	2	73678215	73678215	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:73678215C>T	ENST00000264448.6	+	8	4669	c.4558C>T	c.(4558-4560)Cct>Tct	p.P1520S	ALMS1_ENST00000409009.1_Missense_Mutation_p.P1478S|ALMS1_ENST00000377715.1_Missense_Mutation_p.P1520S	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1520	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TATAACCTCTCCTTCCTACTC	0.488000													33	17					0	0	0.003271	0	0
MXRA5	25878	broad.mit.edu	37	X	3240932	3240932	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:3240932C>T	ENST00000217939.6	-	5	2948	c.2794G>A	c.(2794-2796)Gaa>Aaa	p.E932K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	932						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTGGGCTTTTCATAGACTGTG	0.507000													34	2					0	0	0.006230	0	0
KIAA1217	56243	broad.mit.edu	37	10	24669938	24669938	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:24669938G>A	ENST00000376454.3	+	3	525	c.495G>A	c.(493-495)cgG>cgA	p.R165R	KIAA1217_ENST00000458595.1_Silent_p.R165R|KIAA1217_ENST00000430453.2_Silent_p.R86R|KIAA1217_ENST00000376452.3_Silent_p.R165R|KIAA1217_ENST00000376462.1_Silent_p.R85R	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	165					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GAGGCAGCCGGACTCGTGCGA	0.532000													26	1					0	0	0.004656	0	0
PKDREJ	10343	broad.mit.edu	37	22	46658227	46658227	+	Silent	SNP	G	G	A	rs143050190		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr22:46658227G>A	ENST00000253255.5	-	1	992	c.993C>T	c.(991-993)atC>atT	p.I331I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	331	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AACTCCTGACGATCCAGACAT	0.547000													100	101					0	0	0.014410	0	0
SNAP91	9892	broad.mit.edu	37	6	84292048	84292048	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:84292048G>A	ENST00000428679.2	-	23	2635	c.2042C>T	c.(2041-2043)tCc>tTc	p.S681F	SNAP91_ENST00000521743.1_Missense_Mutation_p.S681F|SNAP91_ENST00000520302.1_Missense_Mutation_p.S651F|SNAP91_ENST00000369694.2_Missense_Mutation_p.S681F|SNAP91_ENST00000195649.6_Missense_Mutation_p.S681F|SNAP91_ENST00000520213.1_Missense_Mutation_p.S374F|SNAP91_ENST00000437520.1_Missense_Mutation_p.S374F|SNAP91_ENST00000521485.1_Missense_Mutation_p.S681F|SNAP91_ENST00000439399.2_Missense_Mutation_p.S681F			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	681					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TGGAGATGGGGAAGGCGCCAT	0.433000													11	3					0	0	0.001855	0	0
TM4SF20	79853	broad.mit.edu	37	2	228228493	228228493	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:228228493C>T	ENST00000304568.3	-	4	674	c.637G>A	c.(637-639)Ggt>Agt	p.G213S		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	213						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CCAAGGAAACCGATGACTATC	0.378000													41	48					0	0	0.013114	0	0
C1orf65	164127	broad.mit.edu	37	1	223568575	223568575	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:223568575C>A	ENST00000366875.3	+	1	1861	c.1758C>A	c.(1756-1758)ttC>ttA	p.F586L		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	586										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TCCAGGAGTTCCAGAAGCTCC	0.547000													28	38					1.74197e-06	3.56588e-06	0.006320	1	0
NOTCH4	4855	broad.mit.edu	37	6	32188893	32188893	+	Missense_Mutation	SNP	G	G	A	rs144962111		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:32188893G>A	ENST00000375023.3	-	4	799	c.661C>T	c.(661-663)Ctc>Ttc	p.L221F		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	221	EGF-like 5; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ACAGGGCAGAGGCACTGGAAG	0.647000													229	243					0	0	0.014410	0	0
OR10G4	390264	broad.mit.edu	37	11	123886691	123886691	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:123886691G>A	ENST00000320891.4	+	1	410	c.410G>A	c.(409-411)gGg>gAg	p.G137E		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G137V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		ATGATGAGTGGGAGCAGGTGT	0.562000													62	17					0	0	0.014410	0	0
MYH2	4620	broad.mit.edu	37	17	10432570	10432570	+	Splice_Site	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:10432570C>T	ENST00000245503.5	-	26	3648		c.e26-1		CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Splice_Site	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult						muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AAACTCTTTCCTTTTAGAAAA	0.333000													18	21					0	0	0.007413	0	0
OR9K2	441639	broad.mit.edu	37	12	55524141	55524141	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:55524141C>T	ENST00000305377.5	+	1	677	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TTGCGCTTCTCGGGCTGTTGA	0.403000													32	21					0	0	0.010818	0	0
MDFI	4188	broad.mit.edu	37	6	41617465	41617465	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:41617465G>A	ENST00000373050.4	+	3	372	c.185G>A	c.(184-186)gGc>gAc	p.G62D				Q99750	MDFI_HUMAN	MyoD family inhibitor	123					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			GCCCTGGGTGGCCCCAAGGCC	0.652000													75	96					0	0	0.014410	0	0
KLK12	43849	broad.mit.edu	37	19	51537262	51537262	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:51537262G>C	ENST00000250352.11	-	3	774	c.101C>G	c.(100-102)tCc>tGc	p.S34C	KLK12_ENST00000529888.1_Silent_p.V57V|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000525263.1_Silent_p.V57V|KLK12_ENST00000250351.4_Silent_p.V57V|KLK12_ENST00000319590.4_Silent_p.V57V			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	0	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		CCGCTGTGAGGACCCACCTGT	0.637000													9	4					0	0	0.010729	0	0
NLRP5	126206	broad.mit.edu	37	19	56572834	56572834	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:56572834C>T	ENST00000390649.3	+	15	3543	c.3543C>T	c.(3541-3543)gtC>gtT	p.V1181V		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1181			V -> I (in dbSNP:rs10409555).			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)		AGCCCCGAGTCGTAATTGACG	0.517000													38	29					0	0	0.005524	0	0
SPTA1	6708	broad.mit.edu	37	1	158585181	158585181	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:158585181C>T	ENST00000368148.3	-	48	6793	c.6613G>A	c.(6613-6615)Gag>Aag	p.E2205K	SPTA1_ENST00000368147.3_Missense_Mutation_p.E2202K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2205					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCTGGATCTCCTTCTGTTTT	0.458000													26	37					0	0	0.005443	0	0
CPT1A	1374	broad.mit.edu	37	11	68540830	68540830	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:68540830G>A	ENST00000265641.5	-	14	1797	c.1643C>T	c.(1642-1644)tCc>tTc	p.S548F	CPT1A_ENST00000376618.2_Missense_Mutation_p.S548F|CPT1A_ENST00000537756.2_5'UTR|CPT1A_ENST00000540367.1_Missense_Mutation_p.S548F|CPT1A_ENST00000539743.1_Missense_Mutation_p.S548F	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	548					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GAATGGGAAGGAATGGAAATC	0.488000													43	28					0	0	0.008740	0	0
TTN	7273	broad.mit.edu	37	2	179640316	179640316	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:179640316C>T	ENST00000589042.1	-	28	6499	c.6275G>A	c.(6274-6276)gGa>gAa	p.G2092E	TTN_ENST00000360870.5_Missense_Mutation_p.G2092E|TTN_ENST00000460472.2_Missense_Mutation_p.G2046E|TTN_ENST00000591111.1_Missense_Mutation_p.G2092E|TTN_ENST00000342992.6_Missense_Mutation_p.G2092E|TTN_ENST00000342175.6_Missense_Mutation_p.G2046E|TTN_ENST00000359218.5_Missense_Mutation_p.G2046E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1855	Ig-like 10.						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)			TGCATCAGATCCTTGGCCCAC	0.458000													11	16					0	0	0.013537	0	0
LPO	4025	broad.mit.edu	37	17	56344852	56344852	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:56344852G>A	ENST00000262290.4	+	12	2152	c.1836G>A	c.(1834-1836)ggG>ggA	p.G612G	LPO_ENST00000582328.1_Silent_p.G529G|LPO_ENST00000421678.2_Silent_p.G529G|LPO_ENST00000543544.1_Silent_p.G553G	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	612					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TCTGGATAGGGGCCATTGCTG	0.577000													19	71					0	0	0.012319	0	0
SPATA6	54558	broad.mit.edu	37	1	48861028	48861028	+	Splice_Site	SNP	T	T	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:48861028T>C	ENST00000371847.3	-	8	945		c.e8-2		SPATA6_ENST00000396199.3_Splice_Site|SPATA6_ENST00000371843.3_Splice_Site	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6						cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GGGATCAACCTAGAGGAAGCA	0.403000													5	11					0	0	0.000602	0	0
ADGRG1	9289	broad.mit.edu	37	16	57695737	57695737	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr16:57695737A>T	ENST00000562631.1	+	13	2325	c.1793A>T	c.(1792-1794)cAa>cTa	p.Q598L	GPR56_ENST00000379694.4_Missense_Mutation_p.Q434L|GPR56_ENST00000562558.1_Missense_Mutation_p.Q598L|GPR56_ENST00000568908.1_Missense_Mutation_p.Q598L|GPR56_ENST00000568909.1_Missense_Mutation_p.Q604L|GPR56_ENST00000388813.5_Missense_Mutation_p.Q598L|GPR56_ENST00000544297.1_Missense_Mutation_p.Q423L|GPR56_ENST00000538815.1_Missense_Mutation_p.Q598L|GPR56_ENST00000379696.3_Missense_Mutation_p.Q604L|GPR56_ENST00000456916.1_Missense_Mutation_p.Q604L|GPR56_ENST00000540164.2_Missense_Mutation_p.Q598L|GPR56_ENST00000388812.4_Missense_Mutation_p.Q604L|GPR56_ENST00000567835.1_Missense_Mutation_p.Q604L			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	604					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						CCCCACACCCAAAAGTGGTCA	0.582000													42	4					0	0	0.014410	0	0
MYO1F	4542	broad.mit.edu	37	19	8587285	8587285	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:8587285C>T	ENST00000338257.8	-	27	3463	c.3196G>A	c.(3196-3198)Gag>Aag	p.E1066K		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	1066	SH3.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TCAATGACCTCGTTCACGTTG	0.627000													19	24					0	0	0.004656	0	0
PRRG3	79057	broad.mit.edu	37	X	150869307	150869307	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:150869307G>A	ENST00000370353.3	+	4	888	c.498G>A	c.(496-498)agG>agA	p.R166R	PRRG3_ENST00000538575.1_Silent_p.R166R			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	166						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGGGGCAGGACCACAGTCC	0.667000													21	16					0	0	0.008871	0	0
NACA	4666	broad.mit.edu	37	12	57112330	57112330	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:57112330G>A	ENST00000454682.1	-	3	3265	c.2984C>T	c.(2983-2985)tCc>tTc	p.S995F	NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TCCTTTGGGGGAGGGAGGAGT	0.657000			T	BCL6	NHL								65	37					0	0	0.014410	0	0
KIAA0754	643314	broad.mit.edu	37	1	39878830	39878830	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:39878830A>G	ENST00000530275.1	+	1	2680	c.2485A>G	c.(2485-2487)Aca>Gca	p.T829A	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	829	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGTACCCATCACAGAGGAGGA	0.572000													13	13					0	0	0.001855	0	0
OR52A5	390054	broad.mit.edu	37	11	5153739	5153739	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:5153739G>A	ENST00000307388.1	-	1	133	c.134C>T	c.(133-135)tCc>tTc	p.S45F		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TAAAATTAGGGAATTTCCAAT	0.403000													26	27					0	0	0.003954	0	0
MPP7	143098	broad.mit.edu	37	10	28420515	28420515	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:28420515G>A	ENST00000337532.5	-	7	697	c.421C>T	c.(421-423)Cgt>Tgt	p.R141C	MPP7_ENST00000445954.2_Missense_Mutation_p.R16C|MPP7_ENST00000540098.1_Missense_Mutation_p.R141C|MPP7_ENST00000375732.1_Missense_Mutation_p.R141C|MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000375719.3_Missense_Mutation_p.R141C	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	141	PDZ.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TTGACCAGACGGATTATTTTT	0.428000													49	5					0	0	0.014410	0	0
ANK3	288	broad.mit.edu	37	10	61832815	61832815	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:61832815G>A	ENST00000280772.1	-	37	8015	c.7824C>T	c.(7822-7824)tcC>tcT	p.S2608S	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2608					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTCTCTGGGGACTGCAGTT	0.448000													10	27					0	0	0.006214	0	0
ISM1	140862	broad.mit.edu	37	20	13279729	13279729	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr20:13279729C>T	ENST00000262487.3	+	6	1024	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	340	AMOP.					extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CATCTTCGACCGCATCAAGCG	0.592000													7	35					0	0	0.008291	0	0
FBXL7	23194	broad.mit.edu	37	5	15936668	15936668	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr5:15936668C>T	ENST00000504595.1	+	4	1330	c.849C>T	c.(847-849)ttC>ttT	p.F283F	FBXL7_ENST00000329673.7_Silent_p.F271F|FBXL7_ENST00000510662.1_Silent_p.F236F	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	283					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CGGACTGCTTCGTGCTGGAGG	0.617000													21	11					0	0	0.012319	0	0
KIZ-AS1	101929591	broad.mit.edu	37	20	21142672	21142672	+	RNA	SNP	C	C	T	rs6075771		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr20:21142672C>T	ENST00000591761.1	-	0	5142				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							TTTTCAATTCCTGACCCACAT	0.448000													12	25					0	0	0.001855	0	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													3	39					0	0	0.004672	0	0
ATG4A	115201	broad.mit.edu	37	X	107395032	107395032	+	Splice_Site	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:107395032G>A	ENST00000372232.3	+	11	1120	c.960_splice	c.e11-1	p.G321_splice	COL4A6_ENST00000418180.1_Intron|ATG4A_ENST00000372254.3_Splice_Site_p.G297_splice|ATG4A_ENST00000545696.1_Splice_Site_p.G182_splice|ATG4A_ENST00000489247.1_3'UTR|ATG4A_ENST00000345734.3_Splice_Site_p.G259_splice	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	321					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						TTCCCCCAAGGGATTTTTCTG	0.398000													100	180					0	0	0.014410	0	0
CYP4B1	1580	broad.mit.edu	37	1	47276491	47276491	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:47276491G>A	ENST00000271153.4	+	2	228	c.192G>A	c.(190-192)acG>acA	p.T64T	CYP4B1_ENST00000546128.1_3'UTR|CYP4B1_ENST00000371923.4_Silent_p.T64T|CYP4B1_ENST00000371919.4_Silent_p.T64T			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	64					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TCCAGGAGACGGGGAGCCTGG	0.577000													32	44					0	0	0.003755	0	0
SLC9C1	285335	broad.mit.edu	37	3	111940000	111940000	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr3:111940000C>T	ENST00000305815.5	-	14	1897	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	SLC9C1_ENST00000487372.1_Missense_Mutation_p.E501K	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	549					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										CCAAAACTTTCTGCTGCACCA	0.388000													8	1					0	0	0.006214	0	0
SORCS3	22986	broad.mit.edu	37	10	106675616	106675616	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:106675616G>A	ENST00000369701.3	+	3	948	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	241						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CACCACCTATGAAAAGCTGAA	0.453000													19	28					0	0	0.010504	0	0
MUC16	94025	broad.mit.edu	37	19	9057936	9057936	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:9057936G>A	ENST00000397910.4	-	3	29713	c.29510C>T	c.(29509-29511)aCc>aTc	p.T9837I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9839	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						TATGGTTATGGTTGTTTCTGA	0.473000													20	34					0	0	0.008871	0	0
NOS2	4843	broad.mit.edu	37	17	26106012	26106012	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:26106012C>T	ENST00000313735.6	-	10	1308	c.1075G>A	c.(1075-1077)Gtg>Atg	p.V359M		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	359					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	AGGCCGCCCACCTCAAGCAGC	0.562000													33	47					0	0	0.013726	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102493923	102493923	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr5:102493923G>A	ENST00000321521.9	+	15	2094	c.1521G>A	c.(1519-1521)ttG>ttA	p.L507L	PPIP5K2_ENST00000358359.3_Silent_p.L507L|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Silent_p.L507L			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	507					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CTTTACTTTTGGTTCTAAAAT	0.378000													25	2					0	0	0.010818	0	0
GRIA2	2891	broad.mit.edu	37	4	158254129	158254129	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:158254129C>T	ENST00000296526.7	+	7	1366	c.1041C>T	c.(1039-1041)gcC>gcT	p.A347A	GRIA2_ENST00000264426.9_Silent_p.A347A|GRIA2_ENST00000393815.2_Silent_p.A300A|GRIA2_ENST00000449365.1_Silent_p.A300A|GRIA2_ENST00000507898.1_Silent_p.A300A	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	347					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TAGAAAGGGCCCTCAAACAGG	0.428000													5	2					0	0	0.001168	0	0
MYO1H	283446	broad.mit.edu	37	12	109847373	109847373	+	Splice_Site	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:109847373G>A	ENST00000431443.2	+	10	1149	c.1148_splice	c.e10-1	p.W383_splice	MYO1H_ENST00000310903.5_Silent_p.R373R	NM_001101421.3	NP_001094891.3	B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						ATTTCACCAGGAAAACTGTAA	0.403000													77	10					0	0	0.014410	0	0
NUFIP2	57532	broad.mit.edu	37	17	27613815	27613815	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:27613815G>A	ENST00000225388.4	-	2	1255	c.1197C>T	c.(1195-1197)tcC>tcT	p.S399S	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	399	Ser-rich.					nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TAGGGACCTGGGATAAGCGAC	0.448000													36	50					0	0	0.004878	0	0
MRPL18	29074	broad.mit.edu	37	6	160212105	160212105	+	Silent	SNP	C	C	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:160212105C>A	ENST00000367034.4	+	2	308	c.186C>A	c.(184-186)gcC>gcA	p.A62A	MRPL18_ENST00000480842.1_3'UTR	NM_014161.3	NP_054880.2	Q9H0U6	RM18_HUMAN	mitochondrial ribosomal protein L18	62					rRNA transport|translation	mitochondrial ribosome	5S rRNA binding|structural constituent of ribosome			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	11		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)		TATCTGTAGCCAGGAAAGAGC	0.557000													32	0					1.26612e-14	2.61316e-14	0.003271	1	0
MIPEP	4285	broad.mit.edu	37	13	24415577	24415577	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr13:24415577C>T	ENST00000382172.3	-	11	1255	c.1157G>A	c.(1156-1158)tGc>tAc	p.C386Y		NM_005932.3	NP_005923.2	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	386					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		GCCTTCCATGCATGCTCCAAG	0.418000													27	53					0	0	0.006320	0	0
HTT	3064	broad.mit.edu	37	4	3230356	3230356	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:3230356C>T	ENST00000355072.5	+	58	8008	c.7863C>T	c.(7861-7863)tcC>tcT	p.S2621S		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2621					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CCATACACTCCGTGTGGCTGG	0.647000													24	30					0	0	0.003330	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													5	85					0	0	0.000602	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12955399	12955399	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:12955399G>A	ENST00000235347.4	-	2	359	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	94										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACCTGGGGCGAACCTTCTGG	0.607000													15	17					0	0	0.006122	0	0
RXFP1	59350	broad.mit.edu	37	4	159569787	159569787	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:159569787C>T	ENST00000307765.5	+	17	2144	c.1893C>T	c.(1891-1893)ttC>ttT	p.F631F	RXFP1_ENST00000470033.1_Silent_p.F598F|RXFP1_ENST00000448688.2_Silent_p.F526F|RXFP1_ENST00000460056.2_Silent_p.F550F|RXFP1_ENST00000343542.5_Silent_p.F583F	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	631						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AACGTTTTTTCTTTATAGTAT	0.328000													21	31					0	0	0.003954	0	0
SMCHD1	23347	broad.mit.edu	37	18	2762185	2762185	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr18:2762185G>A	ENST00000320876.6	+	36	4855	c.4517G>A	c.(4516-4518)cGc>cAc	p.R1506H	SMCHD1_ENST00000261598.8_Missense_Mutation_p.R1506H|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1506					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TCAAATGTTCGCTCAGTTGCC	0.373000													29	31					0	0	0.007291	0	0
CSMD2	114784	broad.mit.edu	37	1	33999434	33999434	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:33999434G>T	ENST00000373381.4	-	63	10129	c.9953C>A	c.(9952-9954)cCa>cAa	p.P3318Q		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3174						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGTCAGGTTTGGGAGGCAGGT	0.562000													5	42					0.00198382	0.00401984	0.001984	1	0
RAI1	10743	broad.mit.edu	37	17	17697373	17697373	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:17697373C>T	ENST00000353383.1	+	3	1580	c.1111C>T	c.(1111-1113)Ccc>Tcc	p.P371S	RAI1_ENST00000261641.6_Missense_Mutation_p.P371S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	371						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GGAGAACTTTCCCTACAGCCA	0.652000													59	78					0	0	0.014410	0	0
NLRP9	338321	broad.mit.edu	37	19	56244087	56244087	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:56244087G>A	ENST00000332836.2	-	2	1137	c.1110C>T	c.(1108-1110)tcC>tcT	p.S370S		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	370	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTGTTAAAAAGGATGCATATA	0.438000													65	40					0	0	0.014410	0	0
STAB1	23166	broad.mit.edu	37	3	52545723	52545723	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr3:52545723G>A	ENST00000321725.6	+	26	2921	c.2845G>A	c.(2845-2847)Gac>Aac	p.D949N		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	949	EGF-like 9.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CAGCCCCATCGACCCCTGCCG	0.637000													22	11					0	0	0.003954	0	0
LCA5	167691	broad.mit.edu	37	6	80223375	80223375	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:80223375G>A	ENST00000392959.1	-	4	885	c.274C>T	c.(274-276)Cca>Tca	p.P92S	LCA5_ENST00000467898.2_Missense_Mutation_p.P92S|LCA5_ENST00000369846.4_Missense_Mutation_p.P92S	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	92					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TTCCGAAGTGGCTCTCTATTG	0.453000													59	2					0	0	0.014410	0	0
ZNF676	163223	broad.mit.edu	37	19	22363802	22363802	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:22363802G>A	ENST00000397121.2	-	3	1034	c.717C>T	c.(715-717)atC>atT	p.I239I		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GTTTAGTAAGGATTGAGGATC	0.353000													6	22					0	0	0.001168	0	0
STARD7-AS1	285033	broad.mit.edu	37	2	96905982	96905982	+	RNA	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:96905982C>T	ENST00000446816.1	+	0	564																											GACTATCATGCCAAAAGGCAG	0.418000													7	6					0	0	0.001984	0	0
TMEM225	338661	broad.mit.edu	37	11	123754837	123754837	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:123754837C>T	ENST00000375026.2	-	3	624	c.408G>A	c.(406-408)agG>agA	p.R136R		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	136						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TCCAGGTGATCCTATAATTAG	0.418000													4	1					0	0	0.009096	0	0
DNAJB12	54788	broad.mit.edu	37	10	74100816	74100816	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:74100816G>A	ENST00000338820.3	-	4	821	c.672C>T	c.(670-672)ttC>ttT	p.F224F	DNAJB12_ENST00000394903.2_Silent_p.F224F|DNAJB12_ENST00000444643.2_Silent_p.F190F|DNAJB12_ENST00000461919.1_5'UTR	NM_001002762.2	NP_001002762.2	Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	190					protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|large_intestine(2)|skin(1)	4						AGCCACGGTGGAAATCCCCAT	0.592000													20	15					0	0	0.010504	0	0
APCS	325	broad.mit.edu	37	1	159557927	159557927	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:159557927C>T	ENST00000255040.2	+	2	198	c.101C>T	c.(100-102)tCt>tTt	p.S34F		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	34	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					CCTAGAGAATCTGTTACTGAT	0.423000													26	33					0	0	0.003954	0	0
MYH4	4622	broad.mit.edu	37	17	10360936	10360936	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:10360936G>A	ENST00000255381.2	-	16	1808	c.1698C>T	c.(1696-1698)ttC>ttT	p.F566F	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	566	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP 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						TGGGCTTCTGGAAGTTGTTGG	0.517000													41	44					0	0	0.008740	0	0
SORCS3	22986	broad.mit.edu	37	10	107015522	107015522	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:107015522G>A	ENST00000369701.3	+	24	3527	c.3300G>A	c.(3298-3300)ggG>ggA	p.G1100G		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1100						integral to membrane	neuropeptide receptor activity	p.G1100G(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGAAGCCGGGGGTACAAGTCA	0.453000													19	24					0	0	0.014323	0	0
OR1J4	26219	broad.mit.edu	37	9	125282217	125282217	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr9:125282217C>T	ENST00000340750.1	+	1	798	c.798C>T	c.(796-798)gcC>gcT	p.A266A		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CATCCAGTGCCTCCAGTGACA	0.473000													18	4					0	0	0.006122	0	0
ZNF215	7762	broad.mit.edu	37	11	6977591	6977591	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:6977591C>T	ENST00000278319.5	+	7	1971	c.1383C>T	c.(1381-1383)ttC>ttT	p.F461F	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Silent_p.F461F	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	461					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		GAAACAATTTCTATCAATGTG	0.393000													25	27					0	0	0.004656	0	0
CADM2	253559	broad.mit.edu	37	3	85961597	85961597	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr3:85961597G>A	ENST00000383699.3	+	6	1231	c.604G>A	c.(604-606)Gac>Aac	p.D202N	CADM2_ENST00000407528.2_Missense_Mutation_p.D193N|CADM2_ENST00000405615.2_Missense_Mutation_p.D195N	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	193	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTTCCGAGTGGACCGGAGTGA	0.428000													6	22					0	0	0.001168	0	0
CBX4	8535	broad.mit.edu	37	17	77811688	77811688	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:77811688C>A	ENST00000269397.4	-	3	304	c.127G>T	c.(127-129)Gaa>Taa	p.E43*	CBX4_ENST00000448310.1_Nonsense_Mutation_p.E43*	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	43	Chromo.|Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCCTCCGGTTCCCACGTGTTA	0.567000													10	7					4.68919e-08	9.63835e-08	0.008291	1	0
TNFRSF21	27242	broad.mit.edu	37	6	47251987	47251987	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:47251987C>T	ENST00000296861.2	-	3	1323	c.930G>A	c.(928-930)ctG>ctA	p.L310L		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	310					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GCAGCAGCTTCAGGATGTGTC	0.577000													91	250					0	0	0.014410	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433930	69433930	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:69433930C>T	ENST00000317746.2	-	1	315	c.273G>A	c.(271-273)atG>atA	p.M91I		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	91					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						CGAACATTTTCATAAAAAAAT	0.274000													37	37					0	0	0.003271	0	0
DNAJC10	54431	broad.mit.edu	37	2	183616503	183616503	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:183616503C>T	ENST00000264065.6	+	15	1840	c.1425C>T	c.(1423-1425)ttC>ttT	p.F475F		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	475	Thioredoxin 2.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTGTTGATTTCTTTGCCCCCG	0.368000													55	117					0	0	0.014410	0	0
PKD1	5310	broad.mit.edu	37	16	2140375	2140375	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr16:2140375G>A	ENST00000262304.4	-	45	12563	c.12355C>T	c.(12355-12357)Cgg>Tgg	p.R4119W	PKD1_ENST00000423118.1_Missense_Mutation_p.R4118W	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4119					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAGGCCGGCCGGTACAGCTCT	0.677000													25	35					0	0	0.006320	0	0
NLGN3	54413	broad.mit.edu	37	X	70386992	70386992	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:70386992G>A	ENST00000374051.3	+	6	1307	c.985G>A	c.(985-987)Gtg>Atg	p.V329M	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000358741.3_Missense_Mutation_p.V349M|NLGN3_ENST00000536169.1_Missense_Mutation_p.V309M	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	349					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CGTGGATATGGTGGACTGTCT	0.562000													45	31					0	0	0.014410	0	0
COL6A3	1293	broad.mit.edu	37	2	238277429	238277429	+	Silent	SNP	G	G	A	rs147215386		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:238277429G>A	ENST00000295550.4	-	10	5129	c.4677C>T	c.(4675-4677)ttC>ttT	p.F1559F	COL6A3_ENST00000409809.1_Silent_p.F1353F|COL6A3_ENST00000353578.4_Silent_p.F1353F|COL6A3_ENST00000347401.3_Silent_p.F1358F|COL6A3_ENST00000346358.4_Silent_p.F1359F|COL6A3_ENST00000472056.1_Silent_p.F952F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1559	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCACCTGGGCGAACCTGGACA	0.572000													50	68					0	0	0.014410	0	0
MCTP2	55784	broad.mit.edu	37	15	94899466	94899466	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr15:94899466C>T	ENST00000357742.4	+	8	1106	c.1106C>T	c.(1105-1107)tCa>tTa	p.S369L	MCTP2_ENST00000557742.1_5'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.S369L|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Missense_Mutation_p.S369L	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	369	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AAGAATGTCTCAGGAGGAAGC	0.408000													17	13					0	0	0.004990	0	0
PLD5	200150	broad.mit.edu	37	1	242253243	242253243	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:242253243C>T	ENST00000442594.2	-	11	1757	c.1248G>A	c.(1246-1248)ccG>ccA	p.P416P	PLD5_ENST00000427495.1_Silent_p.P446P|PLD5_ENST00000536534.1_Silent_p.P508P	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	508						integral to membrane	catalytic activity	p.P508P(1)|p.P416P(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TTGAGCAGTTCGGCTGTTTGG	0.453000													93	101					0	0	0.014410	0	0
LRP1B	53353	broad.mit.edu	37	2	141079626	141079626	+	Missense_Mutation	SNP	T	T	A	rs150003749		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:141079626T>A	ENST00000389484.3	-	82	13517	c.12546A>T	c.(12544-12546)gaA>gaT	p.E4182D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4182					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)		AGCAAAGAAATTCGCATGCTA	0.383000										TSP Lung(27;0.18)			8	8					0	0	0.003080	0	0
HMGN5	79366	broad.mit.edu	37	X	80371822	80371822	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:80371822C>T	ENST00000358130.2	-	6	476	c.148G>A	c.(148-150)Gat>Aat	p.D50N	HMGN5_ENST00000491275.1_5'UTR	NM_030763.2	NP_110390.1	P82970	HMGN5_HUMAN	high mobility group nucleosome binding domain 5	50					chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleolus	chromatin binding|DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	10						TCCATCATATCACTTTTTGTC	0.328000													4	12					0	0	0.000602	0	0
FPR2	2358	broad.mit.edu	37	19	52272498	52272498	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:52272498C>T	ENST00000598776.1	+	2	1359	c.587C>T	c.(586-588)aCc>aTc	p.T196I	FPR2_ENST00000340023.6_Missense_Mutation_p.T196I|FPR2_ENST00000598953.1_Missense_Mutation_p.T196I	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	196					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GTGGCCATTACCATGCTGACA	0.493000													33	49					0	0	0.010818	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481789	142481789	+	RNA	SNP	T	T	C	rs140267598	by1000genomes	TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:142481789T>C	ENST00000603901.1	+	0	468					NR_001296.3																						ACTACCCAGATGAGCTGCAGT	0.488000													4	112					0	0	0.009096	0	0
OR52A5	390054	broad.mit.edu	37	11	5153059	5153059	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:5153059G>A	ENST00000307388.1	-	1	813	c.814C>T	c.(814-816)Cca>Tca	p.P272S		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATATATGGTGGTATGTGTGAA	0.413000													17	17					0	0	0.006122	0	0
ITGB1BP2	26548	broad.mit.edu	37	X	70523548	70523548	+	Splice_Site	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:70523548G>A	ENST00000538820.1	+	6	825		c.e6+1		ITGB1BP2_ENST00000465388.1_3'UTR|ITGB1BP2_ENST00000373829.3_Splice_Site			Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2						muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					TCCATGAGGGGTGAGGGAGGG	0.473000													27	38					0	0	0.005443	0	0
BPTF	2186	broad.mit.edu	37	17	65914951	65914951	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:65914951A>T	ENST00000321892.4	+	14	5864	c.5803A>T	c.(5803-5805)Aca>Tca	p.T1935S	BPTF_ENST00000335221.5_Missense_Mutation_p.T1935S|BPTF_ENST00000306378.6_Missense_Mutation_p.T1809S|BPTF_ENST00000424123.3_Missense_Mutation_p.T1796S			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1935					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GACTACACGGACAGGTAAGGG	0.512000													122	47					0	0	0.014410	0	0
GPR98	84059	broad.mit.edu	37	5	89986803	89986803	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr5:89986803C>T	ENST00000405460.2	+	31	6992	c.6896C>T	c.(6895-6897)aCc>aTc	p.T2299I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2299	Calx-beta 16.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCTGGGGAAACCATTCAAACC	0.493000													27	3					0	0	0.006320	0	0
OR11L1	391189	broad.mit.edu	37	1	248004797	248004797	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:248004797G>A	ENST00000355784.2	-	1	457	c.402C>T	c.(400-402)ttC>ttT	p.F134F		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GATGCATGAGGAAGGGGTAGC	0.582000													18	23					0	0	0.008871	0	0
CPE	1363	broad.mit.edu	37	4	166385646	166385646	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:166385646G>A	ENST00000402744.4	+	2	692	c.412G>A	c.(412-414)Ggg>Agg	p.G138R		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	138					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATACCAGAAGGGGAACGAGAC	0.488000											OREG0016390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	10					0	0	0.003080	0	0
DOCK3	1795	broad.mit.edu	37	3	50879124	50879124	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr3:50879124C>T	ENST00000266037.9	+	3	163	c.140C>T	c.(139-141)tCa>tTa	p.S47L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	47	SH3.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGAGGAGTTTCAACAAAGAAG	0.289000													4	4					0	0	0.000602	0	0
PTPRB	5787	broad.mit.edu	37	12	70980858	70980858	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:70980858C>T	ENST00000334414.6	-	9	2284	c.2240G>A	c.(2239-2241)cGa>cAa	p.R747Q	PTPRB_ENST00000550857.1_Missense_Mutation_p.R439Q|PTPRB_ENST00000551525.1_Missense_Mutation_p.R746Q|PTPRB_ENST00000550358.1_Missense_Mutation_p.R747Q|PTPRB_ENST00000538708.1_Missense_Mutation_p.R529Q|PTPRB_ENST00000261266.5_Missense_Mutation_p.R529Q|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Missense_Mutation_p.R439Q	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	529	Fibronectin type-III 9.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CATGTATTTTCGTCCAGGCAC	0.373000													36	38					0	0	0.004289	0	0
TIFAB	497189	broad.mit.edu	37	5	134785516	134785516	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr5:134785516G>A	ENST00000537858.1	-	2	314	c.114C>T	c.(112-114)ctC>ctT	p.L38L		NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	TRAF-interacting protein with forkhead-associated domain, family member B	38	FHA.									breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCCCCGTCCGAGAAGCAGAG	0.662000													42	5					0	0	0.006230	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50471844	50471844	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr3:50471844C>T	ENST00000435965.1	-	3	478	c.305G>A	c.(304-306)cGg>cAg	p.R102Q	CACNA2D2_ENST00000429770.1_Missense_Mutation_p.R102Q|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.R102Q|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.R102Q|CACNA2D2_ENST00000487413.1_5'UTR|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.R102Q|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.R102Q|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.R33Q|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.R102Q			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	102					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GAACAGGTTCCGGTTGTCCTT	0.577000													66	34					0	0	0.014410	0	0
NCAPD2	9918	broad.mit.edu	37	12	6618900	6618900	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:6618900C>T	ENST00000315579.5	+	3	944	c.145C>T	c.(145-147)Cga>Tga	p.R49*	NCAPD2_ENST00000545962.1_Silent_p.F23F	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	49	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GGCTGCCTTTCGAGCTCAGGG	0.413000													86	102					0	0	0.014410	0	0
PHACTR2	9749	broad.mit.edu	37	6	144095234	144095234	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:144095234G>T	ENST00000427704.2	+	8	1568	c.1438G>T	c.(1438-1440)Gct>Tct	p.A480S	PHACTR2_ENST00000367582.3_Missense_Mutation_p.A411S|PHACTR2_ENST00000367584.4_Missense_Mutation_p.A468S|PHACTR2_ENST00000440869.2_Missense_Mutation_p.A491S|PHACTR2_ENST00000305766.6_Missense_Mutation_p.A400S	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	480							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		GGATACTCTTGCTATCAAACT	0.443000													20	3					1.15919e-05	2.36323e-05	0.008871	1	0
TMEM38A	79041	broad.mit.edu	37	19	16799109	16799109	+	Missense_Mutation	SNP	C	C	T	rs147713228		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:16799109C>T	ENST00000187762.2	+	6	918	c.827C>T	c.(826-828)tCg>tTg	p.S276L		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	276						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						GCTCAGCATTCGGCCATGCCC	0.642000													49	35					0	0	0.014410	0	0
CEP44	80817	broad.mit.edu	37	4	175229985	175229985	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:175229985T>C	ENST00000503780.1	+	7	1067	c.653T>C	c.(652-654)gTt>gCt	p.V218A	CEP44_ENST00000426172.1_Missense_Mutation_p.V218A|CEP44_ENST00000457424.2_Missense_Mutation_p.V218A|CEP44_ENST00000296519.4_Missense_Mutation_p.V218A	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	218						centrosome|midbody|spindle pole				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						GAAGTAAAGGTTCCTGAAATC	0.333000													9	15					0	0	0.010729	0	0
EPB42	2038	broad.mit.edu	37	15	43498717	43498717	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr15:43498717G>T	ENST00000300215.3	-	10	1976	c.1519C>A	c.(1519-1521)Ctg>Atg	p.L507M	EPB42_ENST00000540029.1_Missense_Mutation_p.L399M|EPB42_ENST00000441366.2_Missense_Mutation_p.L477M			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	477					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TTCAAGAGCAGGTACAGAGGA	0.552000													6	136					8.12818e-05	0.000165372	0.001984	1	0
CLVS1	157807	broad.mit.edu	37	8	62289311	62289311	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr8:62289311C>T	ENST00000519846.1	+	4	1075	c.603C>T	c.(601-603)atC>atT	p.I201I	CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Silent_p.I201I			Q8IUQ0	CLVS1_HUMAN	clavesin 1	201	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CACCTTCAATCCTTAAACTGG	0.378000													14	15					0	0	0.003163	0	0
ACSM1	116285	broad.mit.edu	37	16	20681188	20681188	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr16:20681188G>A	ENST00000307493.4	-	5	940	c.873C>T	c.(871-873)atC>atT	p.I291I	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Silent_p.I291I	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	291					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GCAGATGGTGGATAAAGACTG	0.478000													23	33					0	0	0.003954	0	0
ADNP2	22850	broad.mit.edu	37	18	77895923	77895923	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr18:77895923C>T	ENST00000262198.4	+	4	3082	c.2627C>T	c.(2626-2628)aCc>aTc	p.T876I		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	876					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CGAGTGTCCACCTGCCCCTTT	0.587000													32	28					0	0	0.012213	0	0
AADACL4	343066	broad.mit.edu	37	1	12726394	12726394	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:12726394C>T	ENST00000376221.1	+	4	872	c.872C>T	c.(871-873)cCc>cTc	p.P291L		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	291						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GACAACATCCCCAAGAAATTT	0.507000													57	60					0	0	0.014410	0	0
NLRP12	91662	broad.mit.edu	37	19	54327341	54327341	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:54327341A>C	ENST00000324134.6	-	1	256	c.88T>G	c.(88-90)Tta>Gta	p.L30V	NLRP12_ENST00000391775.3_Missense_Mutation_p.L30V|NLRP12_ENST00000535162.1_Missense_Mutation_p.L30V|NLRP12_ENST00000351894.4_Missense_Mutation_p.L30V|NLRP12_ENST00000354278.3_Missense_Mutation_p.L30V|NLRP12_ENST00000391773.1_Missense_Mutation_p.L30V|NLRP12_ENST00000345770.5_Missense_Mutation_p.L30V|NLRP12_ENST00000391772.1_Missense_Mutation_p.L30V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	30	DAPIN.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCCAGGTATAACTTGAACTTC	0.602000													27	44					0	0	0.004656	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42434831	42434831	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr15:42434831C>T	ENST00000397272.3	-	19	2321	c.2230G>A	c.(2230-2232)Gag>Aag	p.E744K	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.E742K	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	742	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TCACGGGCCTCCTCCATGTCC	0.602000													35	34					0	0	0.004289	0	0
ZNF700	90592	broad.mit.edu	37	19	12060344	12060344	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:12060344C>T	ENST00000482090.1	+	3	1869	c.1451C>T	c.(1450-1452)cCc>cTc	p.P484L	ZNF700_ENST00000254321.5_Missense_Mutation_p.P502L|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000591944.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P502H(1)	ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						ATAAGAATGCCCTCTGGAGAA	0.383000													25	22					0	0	0.006320	0	0
TRIM67	440730	broad.mit.edu	37	1	231344874	231344874	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:231344874C>T	ENST00000444294.3	+	8	2853	c.1995C>T	c.(1993-1995)gcC>gcT	p.A665A	TRIM67_ENST00000366652.2_Silent_p.A667A|TRIM67_ENST00000366653.5_Silent_p.A667A|TRIM67_ENST00000449018.3_Silent_p.A605A	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	667	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CAGACCCCGCCTTCGGGGTGG	0.632000													8	127					0	0	0.004482	0	0
KCND3	3752	broad.mit.edu	37	1	112524383	112524383	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:112524383G>A	ENST00000369697.1	-	1	1035	c.966C>T	c.(964-966)ggC>ggT	p.G322G	KCND3_ENST00000302127.4_Silent_p.G322G|KCND3_ENST00000315987.2_Silent_p.G322G			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	322						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		AGAGAAGAAAGCCCAGTTCGG	0.562000													35	26					0	0	0.005524	0	0
RAMP3	10268	broad.mit.edu	37	7	45222997	45222997	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:45222997G>A	ENST00000242249.4	+	3	471	c.433G>A	c.(433-435)Gac>Aac	p.D145N	RAMP3_ENST00000496212.1_Missense_Mutation_p.D145N|RAMP3_ENST00000481345.1_Missense_Mutation_p.D145N	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	145					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity	p.D145N(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	CAAACGCACCGACACGCTGCT	0.627000													70	102					0	0	0.014410	0	0
PRAME	23532	broad.mit.edu	37	22	22892178	22892178	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr22:22892178A>G	ENST00000543184.1	-	4	1785	c.923T>C	c.(922-924)tTc>tCc	p.F308S	PRAME_ENST00000424204.2_Missense_Mutation_p.F292S|PRAME_ENST00000398743.2_Missense_Mutation_p.F308S|PRAME_ENST00000539862.1_Missense_Mutation_p.F292S|PRAME_ENST00000398741.1_Missense_Mutation_p.F308S|PRAME_ENST00000405655.3_Missense_Mutation_p.F308S|PRAME_ENST00000402697.1_Missense_Mutation_p.F308S	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	308					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		GCCTCTAAGGAAAAATAAAGA	0.488000													28	25					0	0	0.005443	0	0
ANKS1B	56899	broad.mit.edu	37	12	99837501	99837501	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:99837501G>A	ENST00000547776.2	-	11	1524	c.1525C>T	c.(1525-1527)Cca>Tca	p.P509S	ANKS1B_ENST00000547010.1_Missense_Mutation_p.P89S|ANKS1B_ENST00000329257.7_Missense_Mutation_p.P509S	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	509						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TCAGGGGATGGAGGTGAACAA	0.418000													5	2					0	0	0.001168	0	0
CLCN1	1180	broad.mit.edu	37	7	143048705	143048705	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:143048705G>A	ENST00000343257.2	+	23	2701	c.2614G>A	c.(2614-2616)Ggg>Agg	p.G872R		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	872	CBS 2.				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GGCCATTGAGGGGCACACCAA	0.527000													17	33					0	0	0.004990	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156632089	156632089	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:156632089C>T	ENST00000296518.7	+	6	981	c.772C>T	c.(772-774)Cac>Tac	p.H258Y	GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.H258Y|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.H258Y|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.H258Y|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.H258Y|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.H258Y			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	258					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GTACTCCGTTCACATGAAAAG	0.473000													27	36					0	0	0.005443	0	0
AGAP6	414189	broad.mit.edu	37	10	51761856	51761856	+	Splice_Site	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:51761856C>T	ENST00000374056.4	+	4	826	c.428_splice	c.e4+1	p.S143_splice	AGAP6_ENST00000412531.3_Splice_Site_p.S166_splice			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	166					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ACAATAATATCGTGAGTACAA	0.383000													57	52					0	0	0.014410	0	0
CCDC88B	283234	broad.mit.edu	37	11	64111547	64111547	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:64111547G>A	ENST00000356786.5	+	14	1578	c.1534G>A	c.(1534-1536)Gac>Aac	p.D512N	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	512					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGTGGCCTTCGACCACAGCCC	0.637000													39	57					0	0	0.006999	0	0
ZNF804A	91752	broad.mit.edu	37	2	185798432	185798432	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:185798432C>T	ENST00000302277.6	+	3	952	c.358C>T	c.(358-360)Ctg>Ttg	p.L120L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	120						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCTGCACAAGCTGGCTGAGCT	0.403000													6	11					0	0	0.001984	0	0
OR51A2	401667	broad.mit.edu	37	11	4976302	4976302	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:4976302G>A	ENST00000380371.1	-	1	641	c.642C>T	c.(640-642)ctC>ctT	p.L214L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACACAGCAATGAGAATAAAGT	0.438000													21	0					0	0	0.014323	0	0
LAMB3	3914	broad.mit.edu	37	1	209796937	209796937	+	Silent	SNP	T	T	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:209796937T>C	ENST00000391911.1	-	15	2660	c.2271A>G	c.(2269-2271)ggA>ggG	p.G757G	LAMB3_ENST00000356082.4_Silent_p.G757G|LAMB3_ENST00000367030.3_Silent_p.G757G	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	757	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTCCTCCTCCTCCCGCCTGCC	0.647000													6	36					0	0	0.008871	0	0
MTF1	4520	broad.mit.edu	37	1	38301355	38301355	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:38301355G>A	ENST00000373036.4	-	5	981	c.841C>T	c.(841-843)Cgt>Tgt	p.R281C		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	281						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTATGTGTACGAACGTGAGTT	0.408000													21	25					0	0	0.003330	0	0
CFHR3	10878	broad.mit.edu	37	1	196762545	196762545	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:196762545G>A	ENST00000367425.4	+	6	987	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	CFHR3_ENST00000391985.3_Missense_Mutation_p.E238K	NM_021023.5	NP_066303.2			complement factor H-related 3											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						GGATACCATTGAATTTATGTG	0.323000													29	17					0	0	0.008361	0	0
CLCN1	1180	broad.mit.edu	37	7	143048706	143048706	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:143048706G>A	ENST00000343257.2	+	23	2702	c.2615G>A	c.(2614-2616)gGg>gAg	p.G872E		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	872	CBS 2.				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GCCATTGAGGGGCACACCAAG	0.532000													16	34					0	0	0.004007	0	0
BCORL1	63035	broad.mit.edu	37	X	129173251	129173251	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:129173251C>T	ENST00000540052.1	+	9	4656	c.4612C>T	c.(4612-4614)Ctc>Ttc	p.L1538F	BCORL1_ENST00000303743.5_Missense_Mutation_p.L1612F|BCORL1_ENST00000218147.7_Missense_Mutation_p.L1538F|BCORL1_ENST00000359304.2_Missense_Mutation_p.L1408F	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1538					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GAAGCGCTTTCTCAGTGGTAA	0.557000													34	46					0	0	0.006230	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004186	75004186	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:75004186C>T	ENST00000373359.2	-	1	893	c.701G>A	c.(700-702)cGa>cAa	p.R234Q		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	234	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						CTCCAAGAATCGCATGCACAC	0.488000													30	30					0	0	0.007291	0	0
SAMD7	344658	broad.mit.edu	37	3	169656259	169656259	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr3:169656259C>T	ENST00000428432.2	+	9	1695	c.1306C>T	c.(1306-1308)Cct>Tct	p.P436S	SAMD7_ENST00000335556.3_Missense_Mutation_p.P436S	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	436										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TACAATAATTCCTAAAGGAAT	0.398000													18	0					0	0	0.007413	0	0
UMODL1	89766	broad.mit.edu	37	21	43543053	43543053	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr21:43543053C>T	ENST00000400427.1	+	16	3504	c.3108C>T	c.(3106-3108)ccC>ccT	p.P1036P	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400424.1_Silent_p.P908P|UMODL1_ENST00000408989.2_Silent_p.P1108P|UMODL1_ENST00000408910.2_Silent_p.P980P	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	980	ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AAGGCCTGCCCCAGCGGCTGA	0.637000													31	1					0	0	0.010818	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142021113	142021113	+	RNA	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:142021113C>T	ENST00000390381.3	+	0	402																											GATATCTGATCAAAACGAGAG	0.547000													11	16					0	0	0.008291	0	0
TMC5	79838	broad.mit.edu	37	16	19451854	19451854	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr16:19451854G>A	ENST00000396229.2	+	3	1243	c.494G>A	c.(493-495)gGa>gAa	p.G165E	TMC5_ENST00000541464.1_Missense_Mutation_p.G165E|TMC5_ENST00000542583.2_Missense_Mutation_p.G165E|TMC5_ENST00000381414.4_Missense_Mutation_p.G165E	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	165						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GACTACCCTGGAGCTCAGAGC	0.468000													65	79					0	0	0.014410	0	0
ATP1A3	478	broad.mit.edu	37	19	42480592	42480592	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:42480592G>A	ENST00000545399.1	-	15	2262	c.2109C>T	c.(2107-2109)atC>atT	p.I703I	ATP1A3_ENST00000602133.1_Silent_p.I660I|ATP1A3_ENST00000543770.1_Silent_p.I701I|ATP1A3_ENST00000302102.5_Silent_p.I690I	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	690					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CCTCCACAATGATGAGCTTCT	0.627000													21	32					0	0	0.003330	0	0
PCLO	27445	broad.mit.edu	37	7	82545616	82545616	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:82545616G>A	ENST00000423517.2	-	7	12023	c.11686C>T	c.(11686-11688)Cct>Tct	p.P3896S	PCLO_ENST00000437081.1_Missense_Mutation_p.P616S|PCLO_ENST00000333891.8_Missense_Mutation_p.P3896S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3827	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTTGGGTAGGAAGAGCAGGG	0.443000													70	54					0	0	0.014410	0	0
COL4A4	1286	broad.mit.edu	37	2	227963478	227963478	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:227963478C>T	ENST00000396625.3	-	19	1343	c.1136G>A	c.(1135-1137)gGa>gAa	p.G379E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G379E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	379	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)		CCCTGTTTCTCCATAGCGGCC	0.527000													34	37					0	0	0.003271	0	0
SPAG9	9043	broad.mit.edu	37	17	49052209	49052209	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:49052209G>A	ENST00000262013.7	-	28	3831	c.3623C>T	c.(3622-3624)cCc>cTc	p.P1208L	SPAG9_ENST00000357122.4_Missense_Mutation_p.P1194L|SPAG9_ENST00000510283.1_Missense_Mutation_p.P1064L|SPAG9_ENST00000505279.1_Missense_Mutation_p.P1198L	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1208					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TGAACAATAGGGTATAAATGT	0.438000													33	21					0	0	0.010818	0	0
WDR81	124997	broad.mit.edu	37	17	1631701	1631701	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:1631701G>C	ENST00000409644.1	+	1	3448	c.3448G>C	c.(3448-3450)Gag>Cag	p.E1150Q	WDR81_ENST00000419248.1_Intron|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000309182.5_Missense_Mutation_p.E99Q|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_Intron	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	0										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GAAGCAAAGCGAGGGCTCCga	0.652000													25	23					0	0	0.004656	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455010	187455010	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:187455010C>T	ENST00000307161.5	-	2	1087	c.886G>A	c.(886-888)Ggg>Agg	p.G296R	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	296					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|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)	TTCAGTAGCCCGTATATAATG	0.502000													38	67					0	0	0.004878	0	0
MYOF	26509	broad.mit.edu	37	10	95121266	95121266	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:95121266A>G	ENST00000371501.4	-	28	3039	c.2917T>C	c.(2917-2919)Tgg>Cgg	p.W973R	MYOF_ENST00000359263.4_Missense_Mutation_p.W973R|MYOF_ENST00000371502.4_Missense_Mutation_p.W973R|MYOF_ENST00000358334.5_Missense_Mutation_p.W960R			Q9NZM1	MYOF_HUMAN	myoferlin	973					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCCCATTCCCAACCTGGAGGA	0.448000													51	82					0	0	0.014410	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735637	55735637	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:55735637C>T	ENST00000312345.2	-	1	353	c.303G>A	c.(301-303)acG>acA	p.T101T		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GGAGACACTCCGTGCCTCCAA	0.428000													21	42					0	0	0.012319	0	0
SRCAP	10847	broad.mit.edu	37	16	30747894	30747894	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr16:30747894C>T	ENST00000262518.4	+	33	7342	c.6957C>T	c.(6955-6957)ttC>ttT	p.F2319F	SRCAP_ENST00000344771.4_Silent_p.F2161F|SRCAP_ENST00000395059.2_Silent_p.F2257F	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2319	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCATGAAATTCCTGGAGGCCT	0.542000													52	52					0	0	0.014410	0	0
COL5A2	1290	broad.mit.edu	37	2	189927614	189927614	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:189927614G>A	ENST00000374866.3	-	29	2228	c.1954C>T	c.(1954-1956)Cct>Tct	p.P652S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	652					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGACCAGAAGGACCAACTTCA	0.383000													26	25					0	0	0.006320	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								29	41					0	0	0.012213	0	0
NLRP11	204801	broad.mit.edu	37	19	56297047	56297047	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:56297047G>A	ENST00000443188.1	-	12	3756	c.3046C>T	c.(3046-3048)Ccc>Tcc	p.P1016S	NLRP11_ENST00000360133.3_Missense_Mutation_p.P962S|NLRP11_ENST00000589824.2_Missense_Mutation_p.P962S|NLRP11_ENST00000592953.1_Missense_Mutation_p.P917S|NLRP11_ENST00000589093.1_Missense_Mutation_p.P1016S	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	1016							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)		GACATTCTGGGAAATTTGAAA	0.373000													32	33					0	0	0.012213	0	0
CCDC3	83643	broad.mit.edu	37	10	12940585	12940585	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:12940585C>T	ENST00000378839.1	-	7	1221	c.269G>A	c.(268-270)cGg>cAg	p.R90Q	CCDC3_ENST00000378825.3_Missense_Mutation_p.R215Q			Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	215						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			CCGGAGCTGCCGGTTGCGCTT	0.602000													51	11					0	0	0.014410	0	0
OR6B3	150681	broad.mit.edu	37	2	240984587	240984587	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:240984587C>T	ENST00000319423.4	-	1	902	c.903G>A	c.(901-903)ttG>ttA	p.L301L		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		AGGCTTTTTTCAAGGCATTCT	0.488000													111	115					0	0	0.014410	0	0
HCRTR2	3062	broad.mit.edu	37	6	55147094	55147094	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:55147094C>T	ENST00000370862.3	+	7	1513	c.1177C>T	c.(1177-1179)Cgg>Tgg	p.R393W		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	393					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.R393R(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCAGGAGGATCGGCTCACCAG	0.458000													9	10					0	0	0.008291	0	0
LPHN2	23266	broad.mit.edu	37	1	82416061	82416061	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:82416061C>T	ENST00000370728.1	+	9	2032	c.1387C>T	c.(1387-1389)Ccc>Tcc	p.P463S	LPHN2_ENST00000370721.1_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Missense_Mutation_p.P463S|LPHN2_ENST00000370725.1_Missense_Mutation_p.P463S|LPHN2_ENST00000370713.1_Missense_Mutation_p.P463S|LPHN2_ENST00000370715.1_Missense_Mutation_p.P463S|LPHN2_ENST00000370717.2_Missense_Mutation_p.P463S|LPHN2_ENST00000359929.3_Missense_Mutation_p.P463S|LPHN2_ENST00000370723.1_Missense_Mutation_p.P463S|LPHN2_ENST00000335786.5_Missense_Mutation_p.P463S|LPHN2_ENST00000370727.1_Missense_Mutation_p.P463S|LPHN2_ENST00000370730.1_Missense_Mutation_p.P463S|LPHN2_ENST00000271029.4_Missense_Mutation_p.P463S|LPHN2_ENST00000394879.1_Missense_Mutation_p.P463S			O95490	LPHN2_HUMAN	latrophilin 2	463					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AAATATTTTTCCCCTGCCAGA	0.463000													10	11					0	0	0.006214	0	0
COL12A1	1303	broad.mit.edu	37	6	75848260	75848260	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:75848260C>T	ENST00000322507.8	-	29	5443	c.5134G>A	c.(5134-5136)Gaa>Aaa	p.E1712K	COL12A1_ENST00000416123.2_Missense_Mutation_p.E1712K|COL12A1_ENST00000483888.2_Missense_Mutation_p.E1712K|COL12A1_ENST00000345356.6_Missense_Mutation_p.E548K	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1712	Fibronectin type-III 12.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTCAGGTTTTCGAACACCAAA	0.428000													12	31					0	0	0.001855	0	0
OR4K2	390431	broad.mit.edu	37	14	20344609	20344609	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr14:20344609C>T	ENST00000298642.2	+	1	219	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTATGTATTTCCTGCTTACCA	0.403000													59	168					0	0	0.014410	0	0
CPED1	79974	broad.mit.edu	37	7	120768517	120768517	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:120768517G>A	ENST00000310396.5	+	11	1851	c.1384G>A	c.(1384-1386)Gga>Aga	p.G462R	CPED1_ENST00000423795.1_Missense_Mutation_p.G242R|CPED1_ENST00000450913.2_Missense_Mutation_p.G462R	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		AAAGGAACTTGGAAGTCTGGG	0.373000													17	21					0	0	0.007413	0	0
MYO3A	53904	broad.mit.edu	37	10	26500832	26500832	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:26500832C>T	ENST00000543632.1	+	17	1897	c.1837C>T	c.(1837-1839)Cga>Tga	p.R613*	MYO3A_ENST00000265944.5_Silent_p.Y1597Y			Q8NEV4	MYO3A_HUMAN	myosin IIIA	0	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CCAACCCCTACGACTTCAGGA	0.652000													32	2					0	0	0.010818	0	0
ZBTB40	9923	broad.mit.edu	37	1	22850922	22850922	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:22850922C>T	ENST00000404138.1	+	18	4021	c.3510C>T	c.(3508-3510)gcC>gcT	p.A1170A	ZBTB40_ENST00000374651.4_Silent_p.A1058A|ZBTB40_ENST00000375647.4_Silent_p.A1170A	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1170					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AGGCCGCAGCCTCACAGATGG	0.552000													25	26					0	0	0.004656	0	0
TTN	7273	broad.mit.edu	37	2	179465767	179465767	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:179465767C>T	ENST00000589042.1	-	288	56088	c.55864G>A	c.(55864-55866)Gac>Aac	p.D18622N	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D9557N|TTN_ENST00000591111.1_Missense_Mutation_p.D16981N|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D16054N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D9749N|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D9682N|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16981	Fibronectin type-III 34.						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)			CCAGTAGGGTCCCATGCAAGG	0.493000													20	11					0	0	0.008871	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37735068	37735068	+	Splice_Site	SNP	A	A	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr8:37735068A>C	ENST00000330843.4	-	2	385	c.371_splice	c.e2-1	p.W125_splice	RAB11FIP1_ENST00000522727.1_5'UTR|RAB11FIP1_ENST00000524118.1_5'UTR|RAB11FIP1_ENST00000287263.4_Splice_Site_p.W125_splice	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	125					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AACTTATACCACCTGAAAGGA	0.458000													18	37					0	0	0.006122	0	0
CHRM3	1131	broad.mit.edu	37	1	240070799	240070799	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:240070799C>T	ENST00000255380.4	+	5	827	c.48C>T	c.(46-48)atC>atT	p.I16I		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	16					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TTCCAAACATCAGCTCCTCCT	0.502000													33	52					0	0	0.013726	0	0
CDHR1	92211	broad.mit.edu	37	10	85972935	85972935	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:85972935C>T	ENST00000372117.3	+	16	1974	c.1871C>T	c.(1870-1872)tCc>tTc	p.S624F	CDHR1_ENST00000332904.3_Missense_Mutation_p.S624F|CDHR1_ENST00000440770.2_Missense_Mutation_p.S328F	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	624	Cadherin 6.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GACATCAATTCCCACACGGGG	0.577000													41	43					0	0	0.006230	0	0
NLRP3	114548	broad.mit.edu	37	1	247587456	247587456	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:247587456G>A	ENST00000366497.2	+	4	1491	c.711G>A	c.(709-711)agG>agA	p.R237R	NLRP3_ENST00000366496.2_Silent_p.R237R|NLRP3_ENST00000391827.2_Silent_p.R237R|NLRP3_ENST00000348069.2_Silent_p.R237R|NLRP3_ENST00000336119.3_Silent_p.R237R|NLRP3_ENST00000391828.3_Silent_p.R237R|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	237	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCCTGGCCAGGAAGATGATGT	0.537000													33	28					0	0	0.012213	0	0
ARHGDIB	397	broad.mit.edu	37	12	15097773	15097773	+	Splice_Site	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:15097773C>T	ENST00000228945.4	-	5	487	c.342_splice	c.e5-1	p.V115_splice	ARHGDIB_ENST00000541644.1_Splice_Site_p.V115_splice|ARHGDIB_ENST00000539131.1_5'UTR|ARHGDIB_ENST00000541546.1_Splice_Site_p.V115_splice	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	115					actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						TCCCTGTTCACCTGCAGGTGG	0.473000													32	50					0	0	0.012213	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870774	51870774	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr20:51870774G>A	ENST00000371497.5	+	2	1664	c.777G>A	c.(775-777)agG>agA	p.R259R	TSHZ2_ENST00000329613.6_Silent_p.R256R|TSHZ2_ENST00000603338.2_Silent_p.R256R	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	259					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CAAAGCCCAGGAAAAGGGCTT	0.478000													16	26					0	0	0.004007	0	0
OR51T1	401665	broad.mit.edu	37	11	4904108	4904108	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:4904108G>A	ENST00000380378.1	+	1	1060	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N	MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.D327N|MMP26_ENST00000477339.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	327					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGAAGATGGGATTGAAGGTA	0.468000													12	6					0	0	0.013537	0	0
NPHS2	7827	broad.mit.edu	37	1	179530463	179530463	+	Nonsense_Mutation	SNP	G	G	A	rs74315343		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:179530463G>A	ENST00000367615.4	-	3	480	c.412C>T	c.(412-414)Cga>Tga	p.R138*	NPHS2_ENST00000367616.4_Nonsense_Mutation_p.R138*	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	138			R -> Q (in NPHS2).		excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						TGTCCCAGTCGGAATATAATT	0.388000													49	67					0	0	0.014410	0	0
MMRN2	79812	broad.mit.edu	37	10	88702722	88702722	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:88702722C>T	ENST00000372027.4	-	6	1892	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	607						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						AGCACCGCCTCGTGCCGCAGC	0.746000													5	7					0	0	0.001168	0	0
CPM	1368	broad.mit.edu	37	12	69250441	69250441	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:69250441C>T	ENST00000551568.1	-	9	1168	c.1108G>A	c.(1108-1110)Gat>Aat	p.D370N	CPM_ENST00000338356.3_Missense_Mutation_p.D370N|CPM_ENST00000546373.1_Missense_Mutation_p.D370N	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	370					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGTGTGGATCATGTCCAGGG	0.408000													23	37					0	0	0.003330	0	0
DCC	1630	broad.mit.edu	37	18	50592416	50592416	+	Splice_Site	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr18:50592416G>A	ENST00000442544.2	+	7	1757	c.1140_splice	c.e7-1	p.G381_splice	DCC_ENST00000412726.1_Splice_Site_p.G229_splice|DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_Splice_Site_p.G36_splice	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	381	Ig-like C2-type 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTTTCCCTAGGGAGGAAGCAA	0.408000													17	24					0	0	0.006122	0	0
CEACAM4	1089	broad.mit.edu	37	19	42133303	42133303	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:42133303C>T	ENST00000221954.2	-	1	139	c.29G>A	c.(28-30)gGa>gAa	p.G10E	CEACAM4_ENST00000600925.1_Missense_Mutation_p.G10E	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	10						integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCTGTGCCCTCCACGGGGAGC	0.652000													9	20					0	0	0.008291	0	0
IQSEC2	23096	broad.mit.edu	37	X	53280174	53280174	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:53280174G>A	ENST00000396435.3	-	5	1784	c.1584C>T	c.(1582-1584)tcC>tcT	p.S528S	IQSEC2_ENST00000375365.2_Silent_p.S323S|IQSEC2_ENST00000375368.5_Silent_p.S518S	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	518	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GTCGCTCAGGGGATTGTTGGG	0.617000													80	6					0	0	0.014410	0	0
TGM3	7053	broad.mit.edu	37	20	2308845	2308845	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr20:2308845C>T	ENST00000381458.5	+	9	1230	c.1167C>T	c.(1165-1167)atC>atT	p.I389I		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	389					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TGCCCTTTATCTTCGCGGAGG	0.557000													52	51					0	0	0.014410	0	0
CES3	23491	broad.mit.edu	37	16	67000216	67000216	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr16:67000216G>A	ENST00000303334.4	+	7	960	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	CES3_ENST00000394037.1_Missense_Mutation_p.E297K	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	297						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		TCAGCAGAAAGAAGGAGAAGA	0.567000													33	1					0	0	0.010818	0	0
TMEM222	84065	broad.mit.edu	37	1	27661924	27661924	+	Silent	SNP	C	C	T	rs114015897	byFrequency	TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:27661924C>T	ENST00000374076.4	+	6	632	c.594C>T	c.(592-594)atC>atT	p.I198I		NM_032125.2	NP_115501.2	Q9H0R3	TM222_HUMAN	transmembrane protein 222	198						integral to membrane	protein binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						TGGGCATCATCCTCACCGTCA	0.617000													49	54					0	0	0.014410	0	0
LRP1B	53353	broad.mit.edu	37	2	141458189	141458189	+	Splice_Site	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:141458189C>T	ENST00000389484.3	-	41	7400	c.6427_splice	c.e41-1	p.G2143_splice		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2143	EGF-like 5.				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)		AAACATTGGTCCCTAATGAAG	0.368000										TSP Lung(27;0.18)			6	14					0	0	0.001984	0	0
TLL1	7092	broad.mit.edu	37	4	166978447	166978447	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:166978447G>A	ENST00000061240.2	+	14	2479	c.1832G>A	c.(1831-1833)aGa>aAa	p.R611K	TLL1_ENST00000507499.1_Missense_Mutation_p.R634K	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	611	EGF-like 1; calcium-binding (Potential).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GGCCCAGACAGAAGGAGCTGT	0.517000													6	7					0	0	0.001168	0	0
MMP1	4312	broad.mit.edu	37	11	102668118	102668118	+	Silent	SNP	C	C	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:102668118C>G	ENST00000315274.6	-	2	286	c.219G>C	c.(217-219)ctG>ctC	p.L73L	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	73					blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		CAGTCACTTTCAGCCCAAAGA	0.478000													41	21					0	0	0.013114	0	0
KIRREL	55243	broad.mit.edu	37	1	158064897	158064897	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:158064897A>T	ENST00000368172.1	+	11	1715	c.1703A>T	c.(1702-1704)cAg>cTg	p.Q568L	KIRREL_ENST00000416935.2_Missense_Mutation_p.Q654L|KIRREL_ENST00000359209.6_Missense_Mutation_p.Q754L|KIRREL_ENST00000360089.4_Missense_Mutation_p.Q590L|KIRREL_ENST00000368173.3_Missense_Mutation_p.Q770L|KIRREL_ENST00000392272.2_Missense_Mutation_p.Q651L			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	754						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CAGCGCATGCAGACTCACGTG	0.587000													11	18					0	0	0.008291	0	0
CYP3A4	1576	broad.mit.edu	37	7	99381680	99381680	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:99381680T>C	ENST00000354593.2	-	1	128	c.25A>G	c.(25-27)Atg>Gtg	p.M9V	CYP3A4_ENST00000336411.2_Missense_Mutation_p.M9V			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	9					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity	p.M9V(1)		breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	CAGGTTTCCATGGCCAAGTCT	0.507000													41	39					0	0	0.014410	0	0
PILRA	29992	broad.mit.edu	37	7	99971893	99971893	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:99971893C>T	ENST00000198536.2	+	2	503	c.291C>T	c.(289-291)ctC>ctT	p.L97L	PILRA_ENST00000474013.1_3'UTR|PILRA_ENST00000350573.2_Silent_p.L97L|PILRA_ENST00000394000.2_Silent_p.L97L|PILRA_ENST00000453419.1_Silent_p.L97L	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	97	Ig-like V-type.				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGAACCGGCTCTTTCTGAACT	0.547000													88	82					0	0	0.014410	0	0
ESRP2	80004	broad.mit.edu	37	16	68265985	68265985	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr16:68265985C>G	ENST00000473183.2	-	10	1557	c.1019G>C	c.(1018-1020)cGt>cCt	p.R340P	ESRP2_ENST00000565858.1_Missense_Mutation_p.R350P			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	350	RRM 1.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						TGACAAGAAACGAGCCACCTC	0.617000													11	13					0	0	0.010729	0	0
ASB5	140458	broad.mit.edu	37	4	177142381	177142381	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:177142381G>A	ENST00000296525.3	-	5	708	c.595C>T	c.(595-597)Cct>Tct	p.P199S	ASB5_ENST00000512254.1_Missense_Mutation_p.P146S	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	199					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		CCCAAATGAGGAATTTCTTGG	0.413000													38	35					0	0	0.005524	0	0
CNTN1	1272	broad.mit.edu	37	12	41410483	41410483	+	Splice_Site	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:41410483G>A	ENST00000551295.2	+	19	2301		c.e19-1		CNTN1_ENST00000347616.1_Splice_Site|CNTN1_ENST00000348761.2_Splice_Site|CNTN1_ENST00000550305.1_Splice_Site	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1						axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TTTCTATTTAGCCTTTGTCAA	0.368000													6	21					0	0	0.001168	0	0
CCSER1	401145	broad.mit.edu	37	4	91701608	91701608	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:91701608G>A	ENST00000432775.2	+	8	2380	c.2026G>A	c.(2026-2028)Gaa>Aaa	p.E676K	CCSER1_ENST00000333691.8_Intron|CCSER1_ENST00000504150.1_3'UTR|CCSER1_ENST00000509176.1_Intron	NM_207491.2	NP_997374.1			coiled-coil serine-rich protein 1																		ATACCCTAGGGAATTCTGAAA	0.348000													6	23					0	0	0.004482	0	0
CLVS2	134829	broad.mit.edu	37	6	123319255	123319255	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:123319255G>A	ENST00000275162.4	+	2	1668	c.333G>A	c.(331-333)ctG>ctA	p.L111L	CLVS2_ENST00000368438.1_Intron	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	111	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TGGCCAATCTGGACCACTATG	0.502000													52	2					0	0	0.014410	0	0
DSC2	1824	broad.mit.edu	37	18	28667687	28667687	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr18:28667687G>A	ENST00000280904.6	-	6	1163	c.720C>T	c.(718-720)taC>taT	p.Y240Y	DSC2_ENST00000251081.6_Silent_p.Y240Y	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	240	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TAAAAATTGGGTAGTTATCAT	0.343000													23	24					0	0	0.014323	0	0
KSR2	283455	broad.mit.edu	37	12	117922325	117922325	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:117922325G>A	ENST00000425217.1	-	16	2313	c.2259C>T	c.(2257-2259)atC>atT	p.I753I	KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000339824.5_Silent_p.I782I	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	782	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTTGTGTAGGATTCCCTTGG	0.522000													17	2					0	0	0.008871	0	0
SMAD1	4086	broad.mit.edu	37	4	146435880	146435880	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:146435880A>G	ENST00000515385.1	+	2	657	c.115A>G	c.(115-117)Aaa>Gaa	p.K39E	SMAD1_ENST00000302085.4_Missense_Mutation_p.K39E|RP11-301H24.4_ENST00000513542.1_RNA|SMAD1_ENST00000394092.2_Missense_Mutation_p.K39E|SMAD1_ENST00000515527.1_3'UTR			Q15797	SMAD1_HUMAN	SMAD family member 1	39	MH1.|Poly-Lys.				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					TGCTTTGGTGAAAAAACTGAA	0.468000													20	37					0	0	0.010504	0	0
DNAH9	1770	broad.mit.edu	37	17	11784565	11784565	+	Silent	SNP	C	C	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:11784565C>A	ENST00000262442.3	+	55	10709	c.10641C>A	c.(10639-10641)ccC>ccA	p.P3547P	DNAH9_ENST00000454412.2_Silent_p.P3547P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3547	AAA 5 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AATACAATCCCAAGTTCCGGC	0.493000													16	68					6.94344e-10	1.43012e-09	0.006122	1	0
STRIP1	85369	broad.mit.edu	37	1	110584359	110584359	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:110584359C>T	ENST00000369795.3	+	8	783	c.761C>T	c.(760-762)tCc>tTc	p.S254F	STRIP1_ENST00000369796.1_Missense_Mutation_p.S159F	NM_033088.2	NP_149079.2			striatin interacting protein 1																		CCTCCAGGCTCCCCGCTGTAC	0.552000													83	62					0	0	0.014410	0	0
GNL3L	54552	broad.mit.edu	37	X	54585023	54585023	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:54585023C>T	ENST00000336470.4	+	15	1740	c.1601C>T	c.(1600-1602)cCc>cTc	p.P534L	GNL3L_ENST00000360845.2_Missense_Mutation_p.P534L	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	534					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						GAGACGGACCCCCTGCAACAG	0.572000													18	24					0	0	0.006122	0	0
SPOCD1	90853	broad.mit.edu	37	1	32280615	32280615	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:32280615A>C	ENST00000360482.2	-	2	449	c.320T>G	c.(319-321)gTg>gGg	p.V107G	SPOCD1_ENST00000373648.2_Missense_Mutation_p.V107G|SPOCD1_ENST00000533231.1_Missense_Mutation_p.V107G|SPOCD1_ENST00000257100.3_Intron	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	107					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTGAGTAGGCACCGAGGGCAG	0.602000													68	47					0	0	0.014410	0	0
COX4I2	84701	broad.mit.edu	37	20	30231300	30231300	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr20:30231300G>A	ENST00000376075.3	+	4	416	c.341G>A	c.(340-342)gGa>gAa	p.G114E	COX4I2_ENST00000490030.1_Intron	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	114					cellular respiration		cytochrome-c oxidase activity			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			TTCTTCATTGGATTCGCAGCT	0.562000													33	33					0	0	0.012213	0	0
DOCK8	81704	broad.mit.edu	37	9	328055	328055	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr9:328055G>A	ENST00000432829.2	+	9	1040	c.724G>A	c.(724-726)Gac>Aac	p.D242N	DOCK8_ENST00000453981.1_Missense_Mutation_p.D310N|DOCK8_ENST00000469391.1_Missense_Mutation_p.D242N	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	310					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCTGAACTCTGACCAGTTCAA	0.438000													31	2					0	0	0.003271	0	0
IL36A	27179	broad.mit.edu	37	2	113764228	113764228	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:113764228G>A	ENST00000259211.6	+	3	589	c.178G>A	c.(178-180)Ggg>Agg	p.G60R		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	60					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						GAAAGACAGAGGGAACCCCAT	0.522000													117	87					0	0	0.014410	0	0
XIST	7503	broad.mit.edu	37	X	73068109	73068109	+	RNA	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:73068109G>A	ENST00000429829.1	-	0	4479					NR_001564.2																						CAGCAGATAGGGAAATTGCAT	0.433000													7	8					0	0	0.003080	0	0
CLEC4E	26253	broad.mit.edu	37	12	8689719	8689719	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:8689719C>T	ENST00000299663.3	-	4	529	c.364G>A	c.(364-366)Gag>Aag	p.E122K	CLEC4E_ENST00000446457.2_Intron|CLEC4E_ENST00000545274.1_Intron	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	122	C-type lectin.					integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					ACCTGCTCCTCCTGTGAGTTG	0.493000													45	49					0	0	0.014410	0	0
DLC1	10395	broad.mit.edu	37	8	12957006	12957006	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr8:12957006G>A	ENST00000276297.4	-	9	3249	c.2840C>T	c.(2839-2841)cCa>cTa	p.P947L	DLC1_ENST00000512044.2_Missense_Mutation_p.P544L|DLC1_ENST00000520226.1_Missense_Mutation_p.P436L|DLC1_ENST00000358919.2_Missense_Mutation_p.P510L	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	947					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TATCTGTTTTGGAGAGGACGG	0.567000													27	43					0	0	0.008361	0	0
CYP19A1	1588	broad.mit.edu	37	15	51529075	51529075	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr15:51529075C>T	ENST00000396402.1	-	3	430	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	CYP19A1_ENST00000557858.1_Missense_Mutation_p.E93K|CYP19A1_ENST00000260433.2_Missense_Mutation_p.E93K|CYP19A1_ENST00000559878.1_Missense_Mutation_p.E93K|CYP19A1_ENST00000396404.4_Missense_Mutation_p.E93K|CYP19A1_ENST00000405913.3_Missense_Mutation_p.E93K|RP11-108K3.1_ENST00000559909.1_lincRNA	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	93					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)	ATGAGTGTTTCCTCTCCAGAG	0.438000													38	46					0	0	0.009718	0	0
DOCK11	139818	broad.mit.edu	37	X	117707775	117707775	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:117707775C>T	ENST00000276204.6	+	12	1257	c.1183C>T	c.(1183-1185)Ccc>Tcc	p.P395S	DOCK11_ENST00000276202.7_Missense_Mutation_p.P395S			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	395					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CCAGGTTGAGCCCTTTTTTAT	0.408000													45	67					0	0	0.013114	0	0
ZNF407	55628	broad.mit.edu	37	18	72589159	72589159	+	Silent	SNP	T	T	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr18:72589159T>C	ENST00000299687.5	+	4	4884	c.4884T>C	c.(4882-4884)ttT>ttC	p.F1628F	ZNF407_ENST00000584235.1_3'UTR|ZNF407_ENST00000577538.1_Silent_p.F1628F	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1628					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)		GCAGGAAATTTACATGCCACT	0.512000													28	38					0	0	0.007291	0	0
GUCA1A	2978	broad.mit.edu	37	6	42147050	42147050	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:42147050G>A	ENST00000394237.1	+	6	1491	c.515G>A	c.(514-516)cGa>cAa	p.R172Q	GUCA1A_ENST00000541991.1_Missense_Mutation_p.R172Q|GUCA1A_ENST00000053469.4_Missense_Mutation_p.R172Q|GUCA1A_ENST00000372958.1_Missense_Mutation_p.R172Q			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	172					signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity	p.R172Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ACACTGACACGAAGCCTGGAC	0.622000													15	26					0	0	0.003163	0	0
NLRP11	204801	broad.mit.edu	37	19	56329286	56329286	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:56329286G>A	ENST00000443188.1	-	4	965	c.255C>T	c.(253-255)atC>atT	p.I85I	NLRP11_ENST00000360133.3_Silent_p.I85I|NLRP11_ENST00000589824.2_Silent_p.I85I|NLRP11_ENST00000592953.1_Intron|NLRP11_ENST00000589093.1_Silent_p.I85I	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	85	DAPIN.						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)		GTCTGCCAATGATCTTCCTAC	0.438000													50	50					0	0	0.014410	0	0
LEPRE1	64175	broad.mit.edu	37	1	43212861	43212861	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:43212861G>A	ENST00000236040.4	-	14	2177	c.2137C>T	c.(2137-2139)Ccc>Tcc	p.P713S	LEPRE1_ENST00000397054.3_Intron|LEPRE1_ENST00000296388.5_Intron|LEPRE1_ENST00000462474.1_Intron	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	0					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGGGATTTGGGGAAGAGAAAG	0.607000											OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	39					0	0	0.013726	0	0
ATP12A	479	broad.mit.edu	37	13	25265129	25265129	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr13:25265129C>T	ENST00000218548.6	+	8	1160	c.827C>T	c.(826-828)aCc>aTc	p.T276I	ATP12A_ENST00000381946.3_Missense_Mutation_p.T270I	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	270					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GGCACTGTCACCGGCATGGTT	0.562000													31	109					0	0	0.004289	0	0
F8	2157	broad.mit.edu	37	X	154185319	154185319	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:154185319G>A	ENST00000360256.4	-	11	1865	c.1665C>T	c.(1663-1665)ttC>ttT	p.F555F		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	555	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCATATTAACGAAACTAGAGT	0.438000													54	54					0	0	0.014410	0	0
MYOM2	9172	broad.mit.edu	37	8	2020446	2020446	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr8:2020446C>T	ENST00000262113.4	+	9	956	c.815C>T	c.(814-816)cCg>cTg	p.P272L	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	272	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCGATGATTCCGTACACGCAC	0.582000													26	29					0	0	0.004656	0	0
TTN	7273	broad.mit.edu	37	2	179636046	179636046	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:179636046C>T	ENST00000589042.1	-	34	8232	c.8008G>A	c.(8008-8010)Gat>Aat	p.D2670N	TTN_ENST00000360870.5_Missense_Mutation_p.D2670N|TTN_ENST00000460472.2_Missense_Mutation_p.D2624N|TTN_ENST00000591111.1_Missense_Mutation_p.D2670N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D2670N|TTN_ENST00000342175.6_Missense_Mutation_p.D2624N|TTN_ENST00000359218.5_Missense_Mutation_p.D2624N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2406	Ig-like 15.						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)			TTGTGGCCATCAGACTCACTT	0.448000													17	28					0	0	0.007413	0	0
YDJC	150223	broad.mit.edu	37	22	21982731	21982731	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr22:21982731G>A	ENST00000292778.6	-	5	997	c.948C>T	c.(946-948)ccC>ccT	p.P316P	YDJC_ENST00000398873.3_3'UTR	NM_001017964.1	NP_001017964.1	A8MPS7	YDJC_HUMAN	YdjC homolog (bacterial)	316					carbohydrate metabolic process		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds					Colorectal(54;0.105)					GTTCCAGGAAGGGTTCCAGAG	0.617000													68	113					0	0	0.014410	0	0
PCLO	27445	broad.mit.edu	37	7	82584948	82584948	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:82584948G>A	ENST00000423517.2	-	5	5658	c.5321C>T	c.(5320-5322)tCa>tTa	p.S1774L	PCLO_ENST00000333891.8_Missense_Mutation_p.S1774L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1705					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S1774L(2)|p.S1705L(1)		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						TTCTTCCTCTGAAGAATCTTC	0.413000													30	40					0	0	0.008361	0	0
SLC4A11	83959	broad.mit.edu	37	20	3211616	3211616	+	Silent	SNP	G	G	A	rs139297339		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr20:3211616G>A	ENST00000380059.3	-	10	1361	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Silent_p.F393F|SLC4A11_ENST00000539553.1_Silent_p.F377F	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	393	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TGAGAGACCCGAAAGCGATGG	0.627000													50	41					0	0	0.014410	0	0
FUT9	10690	broad.mit.edu	37	6	96651051	96651051	+	Missense_Mutation	SNP	G	G	A	rs146406553		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:96651051G>A	ENST00000302103.5	+	3	346	c.20G>A	c.(19-21)gGa>gAa	p.G7E		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	7					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.G7E(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ACATCCAAAGGAATTCTTCGC	0.388000													12	1					0	0	0.001855	0	0
ISM2	145501	broad.mit.edu	37	14	77942259	77942259	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr14:77942259C>T	ENST00000393684.3	-	8	1522	c.1131G>A	c.(1129-1131)ctG>ctA	p.L377L	ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000429906.1_Silent_p.L384L|ISM2_ENST00000412904.1_Silent_p.L384L|ISM2_ENST00000342219.4_Silent_p.L465L			Q6H9L7	ISM2_HUMAN	isthmin 2	465						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GGTAGATGTCCAGGCGCTCGC	0.672000													20	3					0	0	0.012319	0	0
OR10A7	121364	broad.mit.edu	37	12	55614883	55614883	+	Silent	SNP	T	T	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:55614883T>A	ENST00000326258.1	+	1	75	c.75T>A	c.(73-75)gtT>gtA	p.V25V		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						AGATGCAAGTTTCCCTCTTTA	0.378000													24	30					0	0	0.003330	0	0
CCDC3	83643	broad.mit.edu	37	10	12940584	12940584	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:12940584C>T	ENST00000378839.1	-	7	1222	c.270G>A	c.(268-270)cgG>cgA	p.R90R	CCDC3_ENST00000378825.3_Silent_p.R215R			Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	215						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			CCCGGAGCTGCCGGTTGCGCT	0.602000													51	11					0	0	0.014410	0	0
FCGBP	8857	broad.mit.edu	37	19	40368845	40368845	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:40368845G>A	ENST00000221347.6	-	28	12510	c.12503C>T	c.(12502-12504)tCc>tTc	p.S4168F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4168	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTCGGCCACGGAGACAGGCAA	0.622000													49	193					0	0	0.014410	0	0
PCDH15	65217	broad.mit.edu	37	10	55571371	55571371	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:55571371G>A	ENST00000395438.1	-	34	4776	c.4382C>T	c.(4381-4383)cCa>cTa	p.P1461L	PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.P1072L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron	NM_001142770.1	NP_001136242.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGACTCCATGGATAATTCCT	0.328000										HNSCC(58;0.16)			3	9					0	0	0.009096	0	0
THAP4	51078	broad.mit.edu	37	2	242572709	242572709	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:242572709G>A	ENST00000407315.1	-	2	1294	c.863C>T	c.(862-864)tCa>tTa	p.S288L		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	288							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		CGCGGTAAGTGATGAGCTGGG	0.647000													59	97					0	0	0.014410	0	0
TPO	7173	broad.mit.edu	37	2	1488405	1488405	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:1488405G>A	ENST00000345913.4	+	9	1467	c.1376G>A	c.(1375-1377)gGa>gAa	p.G459E	TPO_ENST00000329066.4_Missense_Mutation_p.G459E|TPO_ENST00000382198.1_Missense_Mutation_p.G286E|TPO_ENST00000382201.3_Missense_Mutation_p.G459E|TPO_ENST00000337415.3_Missense_Mutation_p.G459E|TPO_ENST00000346956.3_Missense_Mutation_p.G459E|TPO_ENST00000349624.3_Missense_Mutation_p.G286E|TPO_ENST00000497517.2_3'UTR	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	459					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AGGATCCTGGGACCCGAGGCC	0.592000													19	27					0	0	0.012319	0	0
HORMAD2	150280	broad.mit.edu	37	22	30515015	30515015	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr22:30515015G>A	ENST00000336726.6	+	8	744	c.389G>A	c.(388-390)gGa>gAa	p.G130E	HORMAD2_ENST00000403975.1_Missense_Mutation_p.G130E	NM_152510.2	NP_689723.1	Q8N7B1	HORM2_HUMAN	HORMA domain containing 2	130	HORMA.				meiosis|mitosis	chromosome|nucleus				large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			ACGAAAGAAGGAGCCACTATG	0.343000													4	0					0	0	0.001168	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066766	18066766	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:18066766G>A	ENST00000506618.2	-	1	720	c.640C>T	c.(640-642)Cgt>Tgt	p.R214C		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	214	Binding of phosphoribosylpyrophosphate (Potential).				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					ATAGCCACACGATCATTCACA	0.453000													54	44					0	0	0.014410	0	0
RBFA	79863	broad.mit.edu	37	18	77797460	77797460	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr18:77797460C>T	ENST00000306735.5	+	3	470	c.332C>T	c.(331-333)cCt>cTt	p.P111L	RBFA_ENST00000262197.7_Missense_Mutation_p.P111L|RBFADN_ENST00000569722.1_Intron|RBFA_ENST00000586847.1_3'UTR	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	111					rRNA processing	mitochondrion				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						CTGTGTACCCCTGAAGTGAGT	0.547000													35	73					0	0	0.005524	0	0
TUBA8	51807	broad.mit.edu	37	22	18609239	18609239	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr22:18609239C>T	ENST00000330423.3	+	4	567	c.494C>T	c.(493-495)tCc>tTc	p.S165F	TUBA8_ENST00000316027.6_Missense_Mutation_p.S99F	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	165					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						GGCAAGAAATCCAAGCTGGAG	0.557000													55	80					0	0	0.014410	0	0
STAG3L2	442582	broad.mit.edu	37	7	74306557	74306557	+	RNA	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:74306557C>T	ENST00000423186.1	-	0	130							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						TGGCGCGTGCCAGACACCAAC	0.627000													9	5					0	0	0.008291	0	0
NXPE4	54827	broad.mit.edu	37	11	114442165	114442165	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:114442165C>T	ENST00000375478.3	-	6	1310	c.1130G>A	c.(1129-1131)gGa>gAa	p.G377E	NXPE4_ENST00000424261.2_Missense_Mutation_p.G93E	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		TTGCAATTTTCCAGATTCATG	0.378000													26	4					0	0	0.006320	0	0
TBX3	6926	broad.mit.edu	37	12	115117741	115117741	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:115117741C>T	ENST00000257566.3	-	3	1083	c.694G>A	c.(694-696)Ggg>Agg	p.G232R	TBX3_ENST00000349155.2_Intron	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	232					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CTATAATTCCCCTGCCACGTA	0.443000													14	0					0	0	0.004007	0	0
OR51S1	119692	broad.mit.edu	37	11	4869969	4869969	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:4869969G>A	ENST00000322101.2	-	1	545	c.470C>T	c.(469-471)tCt>tTt	p.S157F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S157F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCATCGAAAAGAAATGGCCAG	0.552000													41	66					0	0	0.008740	0	0
TMEM257	9142	broad.mit.edu	37	X	144909531	144909531	+	Nonstop_Mutation	SNP	A	A	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:144909531A>G	ENST00000408967.2	+	1	604	c.336A>G	c.(334-336)tgA>tgG	p.*112W		NM_004709.2	NP_004700.1			transmembrane protein 257																		CCTACAAATGACAAATGGTAA	0.403000													16	8					0	0	0.006122	0	0
ZNF283	284349	broad.mit.edu	37	19	44352174	44352174	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:44352174T>C	ENST00000324461.7	+	7	1718	c.1421T>C	c.(1420-1422)cTt>cCt	p.L474P	ZNF283_ENST00000588797.1_Missense_Mutation_p.L335P	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				GGTTCAAGCCTTGTTAAACAT	0.413000													34	43					0	0	0.004878	0	0
F8	2157	broad.mit.edu	37	X	154159039	154159039	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:154159039A>G	ENST00000360256.4	-	14	3226	c.3026T>C	c.(3025-3027)tTa>tCa	p.L1009S		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1009	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AACTTTGAATAAGGCATTATC	0.348000													23	45					0	0	0.003954	0	0
KCND2	3751	broad.mit.edu	37	7	120385909	120385909	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:120385909C>T	ENST00000331113.4	+	5	2508	c.1543C>T	c.(1543-1545)Cac>Tac	p.H515Y		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	515					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TCCTTCAAGTCACAGTCCTTC	0.433000													9	12					0	0	0.006214	0	0
CD163	9332	broad.mit.edu	37	12	7639179	7639179	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:7639179C>T	ENST00000359156.4	-	10	2576	c.2374G>A	c.(2374-2376)Gaa>Aaa	p.E792K	CD163_ENST00000432237.2_Missense_Mutation_p.E792K|CD163_ENST00000541972.1_Missense_Mutation_p.E780K|CD163_ENST00000396620.3_Missense_Mutation_p.E825K	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	792	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ATGCGGGATTCTTTTCCATTG	0.512000													79	82					0	0	0.014410	0	0
PDE4A	5141	broad.mit.edu	37	19	10565554	10565554	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:10565554G>A	ENST00000380702.2	+	8	767	c.767G>A	c.(766-768)aGg>aAg	p.R256K	PDE4A_ENST00000352831.6_Missense_Mutation_p.R278K|PDE4A_ENST00000440014.2_Missense_Mutation_p.R217K|PDE4A_ENST00000344979.3_Missense_Mutation_p.R39K|PDE4A_ENST00000592685.1_Missense_Mutation_p.R256K|PDE4A_ENST00000293683.5_Missense_Mutation_p.R252K			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	278					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	GAAATGAGCAGGTCCGGAAAC	0.517000													48	35					0	0	0.014410	0	0
GRXCR1	389207	broad.mit.edu	37	4	43032430	43032430	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:43032430C>T	ENST00000399770.2	+	4	746	c.746C>T	c.(745-747)cCa>cTa	p.P249L		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	249					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GGCTTTCTTCCATGCTCCGTG	0.478000													52	60					0	0	0.014410	0	0
LPXN	9404	broad.mit.edu	37	11	58317539	58317539	+	Silent	SNP	G	G	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:58317539G>T	ENST00000528954.1	-	6	701	c.582C>A	c.(580-582)ccC>ccA	p.P194P	LPXN_ENST00000528489.1_Silent_p.P169P|LPXN_ENST00000395074.2_Silent_p.P189P	NM_001143995.1	NP_001137467.1	O60711	LPXN_HUMAN	leupaxin	189	LIM zinc-binding 1.				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GCTCAAAGAAGGGACTGGAGC	0.502000													6	189					0.00198382	0.00401984	0.001984	1	0
LCN2	3934	broad.mit.edu	37	9	130914544	130914544	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr9:130914544C>T	ENST00000540948.1	+	5	631	c.558C>T	c.(556-558)atC>atT	p.I186I	LCN2_ENST00000277480.2_Silent_p.I186I|LCN2_ENST00000373017.1_Silent_p.I186I|LCN2_ENST00000373013.2_Silent_p.I188I|LCN2_ENST00000470902.1_3'UTR|LCN2_ENST00000372998.1_Silent_p.I188I			P80188	NGAL_HUMAN	lipocalin 2	186					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity			central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						AAAACCACATCGTCTTCCCTG	0.557000													23	6					0	0	0.003330	0	0
SH2B1	25970	broad.mit.edu	37	16	28880341	28880341	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr16:28880341C>T	ENST00000337120.5	+	3	4347	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	SH2B1_ENST00000322610.8_Silent_p.S352S|SH2B1_ENST00000359285.5_Silent_p.S352S|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000395532.4_Silent_p.S352S|SH2B1_ENST00000538342.1_Silent_p.S16S|SH2B1_ENST00000545570.1_Silent_p.S42S	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	352	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|PH.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						AAGGTCCATCCGAGTATATCA	0.557000													34	45					0	0	0.009718	0	0
CPNE1	8904	broad.mit.edu	37	20	34214185	34214185	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr20:34214185G>A	ENST00000317619.3	-	18	1986	c.1592C>T	c.(1591-1593)cCt>cTt	p.P531L	CPNE1_ENST00000397446.1_Missense_Mutation_p.P531L|CPNE1_ENST00000397443.1_Missense_Mutation_p.P531L|CPNE1_ENST00000317677.5_Missense_Mutation_p.P536L|CPNE1_ENST00000352393.4_Missense_Mutation_p.P531L|CPNE1_ENST00000397445.1_Missense_Mutation_p.P531L|CPNE1_ENST00000397442.1_Missense_Mutation_p.P475L			Q99829	CPNE1_HUMAN	copine I	531					lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GGCCTGTGCAGGATCCTTGGC	0.622000													93	131					0	0	0.014410	0	0
PFAS	5198	broad.mit.edu	37	17	8161174	8161174	+	Silent	SNP	T	T	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:8161174T>C	ENST00000314666.6	+	10	1258	c.1125T>C	c.(1123-1125)ttT>ttC	p.F375F	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	375					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTGGGAATTTTGCCCGGCCCC	0.537000													29	27					0	0	0.006320	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961064	73961064	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:73961064C>T	ENST00000373468.1	-	3	3979	c.3328G>A	c.(3328-3330)Gaa>Aaa	p.E1110K	KIAA2022_ENST00000055682.5_Missense_Mutation_p.E1110K			Q5QGS0	K2022_HUMAN	KIAA2022	1110					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.E1110K(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTGATTTTTTCCACACTGTCC	0.443000													14	9					0	0	0.002450	0	0
CRISP3	10321	broad.mit.edu	37	6	49700982	49700982	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:49700982G>A	ENST00000433368.2	-	6	585	c.516C>T	c.(514-516)ctC>ctT	p.L172L	CRISP3_ENST00000371159.4_Silent_p.L180L|CRISP3_ENST00000263045.4_Silent_p.L162L|CRISP3_ENST00000423399.2_Silent_p.L59L|CRISP3_ENST00000393666.1_Silent_p.L149L	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	149					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CACATCCAACGAGGTATGAAG	0.333000													36	90					0	0	0.007835	0	0
ADCK2	90956	broad.mit.edu	37	7	140380881	140380881	+	Missense_Mutation	SNP	C	C	T	rs138501789		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:140380881C>T	ENST00000072869.4	+	4	1427	c.1249C>T	c.(1249-1251)Ccc>Tcc	p.P417S	ADCK2_ENST00000476491.1_Missense_Mutation_p.P417S	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	417	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GGCAGGAATTCCCGTGGACTT	0.567000													31	38					0	0	0.003271	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589843	140589843	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr5:140589843C>T	ENST00000239450.2	+	1	1553	c.1364C>T	c.(1363-1365)tCc>tTc	p.S455F	PCDHB12_ENST00000541609.1_Missense_Mutation_p.S118F	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		455					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCAAACTTCCTACGCCCTG	0.612000													45	4					0	0	0.013114	0	0
HTR5A	3361	broad.mit.edu	37	7	154863337	154863337	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:154863337C>T	ENST00000287907.2	+	1	1304	c.728C>T	c.(727-729)tCc>tTc	p.S243F		NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	243						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TCACCCATATCCGAAGCTGTG	0.542000													29	23					0	0	0.009535	0	0
PHF8	23133	broad.mit.edu	37	X	54011532	54011532	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:54011532C>T	ENST00000338154.6	-	18	2762	c.2258G>A	c.(2257-2259)cGa>cAa	p.R753Q	PHF8_ENST00000357988.5_Missense_Mutation_p.R789Q|PHF8_ENST00000322659.8_Missense_Mutation_p.R736Q|PHF8_ENST00000338946.6_Missense_Mutation_p.R652Q	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	789					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CCCACTGCTTCGATCCTGTCC	0.642000													18	20					0	0	0.004990	0	0
PARL	55486	broad.mit.edu	37	3	183551530	183551530	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr3:183551530G>A	ENST00000317096.4	-	8	972	c.912C>T	c.(910-912)ttC>ttT	p.F304F	PARL_ENST00000435888.1_Intron|PARL_ENST00000311101.5_Silent_p.F254F	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	304					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTGTGAACGTGAACATCGGAA	0.453000													55	3					0	0	0.014410	0	0
LEPR	3953	broad.mit.edu	37	1	66102125	66102125	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:66102125G>A	ENST00000349533.6	+	20	3110	c.2925G>A	c.(2923-2925)gaG>gaA	p.E975E	LEPR_ENST00000406510.3_Silent_p.E42E	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	975					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TAACCTATGAGGACGAAAGCC	0.418000													15	19					0	0	0.002450	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71189977	71189977	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:71189977C>T	ENST00000234396.4	+	9	929	c.856C>T	c.(856-858)Cat>Tat	p.H286Y	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.H286Y	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	286					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GTGTGAGAAGCATGTGCTGGT	0.577000													61	41					0	0	0.014410	0	0
RFTN1	23180	broad.mit.edu	37	3	16419364	16419364	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr3:16419364C>T	ENST00000334133.4	-	5	959	c.687G>A	c.(685-687)ggG>ggA	p.G229G	RFTN1_ENST00000432519.1_Silent_p.G193G	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	229						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GGGGCACCTCCCCTCTGGGGC	0.627000													26	21					0	0	0.003954	0	0
OR4B1	119765	broad.mit.edu	37	11	48238568	48238568	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:48238568C>T	ENST00000309562.2	+	1	225	c.207C>T	c.(205-207)atC>atT	p.I69I		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TGGTGGAGATCAGTTATTCCT	0.473000													37	31					0	0	0.005524	0	0
GPR82	27197	broad.mit.edu	37	X	41586351	41586351	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:41586351C>T	ENST00000302548.4	+	3	312	c.72C>T	c.(70-72)ctC>ctT	p.L24L	CASK_ENST00000421587.2_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000442742.2_Intron	NM_080817.4	NP_543007.1	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	24						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	10						TTTACATCCTCCTTTGTATTG	0.338000													17	1					0	0	0.004990	0	0
OR6K3	391114	broad.mit.edu	37	1	158687210	158687210	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:158687210C>T	ENST00000368146.1	-	1	743	c.744G>A	c.(742-744)ggG>ggA	p.G248G	OR6K3_ENST00000368145.1_Silent_p.G232G			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	248					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)					CCTTTTGCCTCCCTTCAGAAG	0.443000													5	5					0	0	0.000602	0	0
SCN10A	6336	broad.mit.edu	37	3	38770242	38770242	+	Missense_Mutation	SNP	C	C	T	rs77049337		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr3:38770242C>T	ENST00000449082.2	-	15	2430	c.2431G>A	c.(2431-2433)Gaa>Aaa	p.E811K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	811					sensory perception	voltage-gated sodium channel complex		p.E811K(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)	CGGTAGTTTTCCCCTAGGAGC	0.527000													27	86					0	0	0.006320	0	0
ATCAY	85300	broad.mit.edu	37	19	3907814	3907814	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:3907814C>T	ENST00000450849.2	+	5	908	c.441C>T	c.(439-441)agC>agT	p.S147S	ATCAY_ENST00000600960.1_Silent_p.S147S|ATCAY_ENST00000398448.3_Silent_p.S153S|ATCAY_ENST00000301260.6_Silent_p.S147S	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	147					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		AGGACGGCAGCGCCGCCAACG	0.642000													22	38					0	0	0.003330	0	0
IRGQ	126298	broad.mit.edu	37	19	44096313	44096313	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:44096313G>A	ENST00000422989.1	-	3	1892	c.1737C>T	c.(1735-1737)ttC>ttT	p.F579F	L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000602269.1_Silent_p.F579F|IRGQ_ENST00000601520.1_Intron	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	579	Ala-rich.						protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CAGGCCACAGGAAGGAGAGAG	0.711000													6	12					0	0	0.001168	0	0
AUTS2	26053	broad.mit.edu	37	7	70255400	70255400	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:70255400C>T	ENST00000342771.4	+	19	3519	c.3198C>T	c.(3196-3198)ttC>ttT	p.F1066F	AUTS2_ENST00000406775.2_Silent_p.F1042F	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1066										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ACCCTTCTTTCCACTGGGACC	0.617000													16	14					0	0	0.003163	0	0
MAST1	22983	broad.mit.edu	37	19	12969541	12969541	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:12969541G>A	ENST00000251472.4	+	12	1393	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	MAST1_ENST00000591495.1_Missense_Mutation_p.E448K	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	452	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CATGGTCATGGAATATGTGGA	0.627000													8	19					0	0	0.003080	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907865	12907865	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:12907865C>T	ENST00000317869.6	-	2	503	c.278G>A	c.(277-279)gGa>gAa	p.G93E		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						ACCTGCGTTTCCTCGGTTCAC	0.483000													23	103					0	0	0.014323	0	0
C4orf29	80167	broad.mit.edu	37	4	128930340	128930340	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:128930340C>T	ENST00000388795.5	+	6	593	c.190C>T	c.(190-192)Cct>Tct	p.P64S	C4orf29_ENST00000444616.1_Missense_Mutation_p.P146S|C4orf29_ENST00000398965.1_Missense_Mutation_p.P146S			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	146						extracellular region				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GTTAGAAAACCCTTATTATAT	0.328000													8	2					0	0	0.003080	0	0
CMTR2	55783	broad.mit.edu	37	16	71319468	71319468	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr16:71319468T>G	ENST00000338099.5	-	3	692	c.356A>C	c.(355-357)cAt>cCt	p.H119P	FTSJD1_ENST00000434935.2_Missense_Mutation_p.H119P			Q8IYT2	FTSJ1_HUMAN		119						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAAAATCTCATGGAACTTACA	0.393000													31	1					0	0	0.010818	0	0
IRAK3	11213	broad.mit.edu	37	12	66597655	66597655	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:66597655C>T	ENST00000261233.4	+	2	719	c.298C>T	c.(298-300)Cat>Tat	p.H100Y	IRAK3_ENST00000457197.2_Intron	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	100	Death.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TCGAGCTATTCATTTAATTAC	0.368000													11	23					0	0	0.010729	0	0
DNAH6	1768	broad.mit.edu	37	2	84777072	84777072	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:84777072C>T	ENST00000389394.3	+	9	1513	c.1376C>T	c.(1375-1377)gCt>gTt	p.A459V	DNAH6_ENST00000237449.6_Missense_Mutation_p.A459V|DNAH6_ENST00000398278.2_Missense_Mutation_p.A459V	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	459	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ACGGTAAATGCTGTTAATTCG	0.353000													10	16					0	0	0.008291	0	0
DPYD	1806	broad.mit.edu	37	1	98205983	98205983	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:98205983C>T	ENST00000370192.3	-	4	386	c.286G>A	c.(286-288)Gat>Aat	p.D96N	DPYD_ENST00000423006.2_Missense_Mutation_p.D59N|DPYD_ENST00000306031.5_Missense_Mutation_p.D96N	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	96	4Fe-4S ferredoxin-type 1.				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GATTTAATATCAAGATTAGTT	0.323000													26	53					0	0	0.013726	0	0
DZIP1	22873	broad.mit.edu	37	13	96242060	96242060	+	Missense_Mutation	SNP	G	G	A	rs139553238		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr13:96242060G>A	ENST00000347108.3	-	16	2402	c.1970C>T	c.(1969-1971)cCa>cTa	p.P657L	DZIP1_ENST00000361156.3_Missense_Mutation_p.P638L|DZIP1_ENST00000361396.2_Missense_Mutation_p.P638L|DZIP1_ENST00000376829.2_Missense_Mutation_p.P657L			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	657					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TACTCACTTTGGAACAGATGT	0.378000													50	40					0	0	0.014410	0	0
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V														p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													5	30					0	0	0.000602	0	0
MUM1L1	139221	broad.mit.edu	37	X	105449843	105449843	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:105449843G>A	ENST00000337685.2	+	5	1203	c.418G>A	c.(418-420)Gac>Aac	p.D140N	MUM1L1_ENST00000372552.1_Missense_Mutation_p.D140N|MUM1L1_ENST00000357175.2_Missense_Mutation_p.D140N	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	140										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						GGATGAAGGTGACTTACCAGG	0.433000													15	9					0	0	0.007413	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354398	45354398	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr20:45354398C>T	ENST00000359271.2	+	2	973	c.723C>T	c.(721-723)ttC>ttT	p.F241F		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	241						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TGGTGCTCTTCCAGCAACTAA	0.632000													52	85					0	0	0.014410	0	0
ATP7A	538	broad.mit.edu	37	X	77244961	77244961	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:77244961C>T	ENST00000341514.6	+	4	998	c.843C>T	c.(841-843)ttC>ttT	p.F281F	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Silent_p.F281F	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	281	HMA 3.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CAGCCACTTTCATCATTGATG	0.368000													70	102					0	0	0.014410	0	0
NUFIP2	57532	broad.mit.edu	37	17	27613814	27613814	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:27613814G>A	ENST00000225388.4	-	2	1256	c.1198C>T	c.(1198-1200)Cag>Tag	p.Q400*	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	400	Ser-rich.					nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			ATAGGGACCTGGGATAAGCGA	0.448000													36	50					0	0	0.004878	0	0
GPR112	139378	broad.mit.edu	37	X	135428453	135428453	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:135428453C>T	ENST00000394143.1	+	6	2879	c.2588C>T	c.(2587-2589)cCa>cTa	p.P863L	GPR112_ENST00000412101.1_Missense_Mutation_p.P658L|GPR112_ENST00000394141.1_Missense_Mutation_p.P658L|GPR112_ENST00000370652.1_Missense_Mutation_p.P863L|GPR112_ENST00000287534.4_Missense_Mutation_p.P800L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	863					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GAGGTTTCTCCATTTTCAACA	0.408000													19	20					0	0	0.012319	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110456923	110456923	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr8:110456923G>A	ENST00000378402.5	+	38	4929	c.4825G>A	c.(4825-4827)Gaa>Aaa	p.E1609K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1609	IPT/TIG 8.				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)			TGTCGTAGAAGAAAGTAGTGA	0.363000										HNSCC(38;0.096)			71	65					0	0	0.014410	0	0
OXTR	5021	broad.mit.edu	37	3	8794857	8794857	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr3:8794857G>A	ENST00000316793.3	-	4	1600	c.976C>T	c.(976-978)Ccc>Tcc	p.P326S	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	326					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	TAGATCCAGGGGTTGCAGCAG	0.592000													22	15					0	0	0.010504	0	0
CLPP	8192	broad.mit.edu	37	19	6366267	6366267	+	Splice_Site	SNP	A	A	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:6366267A>T	ENST00000245816.4	+	5	678		c.e5-1		CLPP_ENST00000596605.1_Splice_Site|CLPP_ENST00000596149.1_Splice_Site	NM_006012.2	NP_006003.1	Q16740	CLPP_HUMAN	caseinolytic mitochondrial matrix peptidase proteolytic subunit						proteolysis	mitochondrial matrix	ATP binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|ovary(2)	6						GACGTCCCTCAGGGCCAAGCC	0.582000													7	6					0	0	0.001984	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962141	73962141	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:73962141C>T	ENST00000373468.1	-	3	2902	c.2251G>A	c.(2251-2253)Gaa>Aaa	p.E751K	KIAA2022_ENST00000055682.5_Missense_Mutation_p.E751K			Q5QGS0	K2022_HUMAN	KIAA2022	751					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GATTGGTTTTCCAAGAGAGGG	0.378000													15	17					0	0	0.002450	0	0
FOLR4	390243	broad.mit.edu	37	11	94038819	94038819	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:94038819C>T	ENST00000440961.2	+	1	61	c.17C>T	c.(16-18)cCg>cTg	p.P6L		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	6						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						TGCTGGTGGCCGCTCCTGCTA	0.582000													86	79					0	0	0.014410	0	0
COL25A1	84570	broad.mit.edu	37	4	109767312	109767312	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:109767312C>T	ENST00000399132.1	-	28	2028	c.1498G>A	c.(1498-1500)Gga>Aga	p.G500R	COL25A1_ENST00000399126.1_Missense_Mutation_p.G500R|COL25A1_ENST00000399127.1_Missense_Mutation_p.G473R	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	500	Collagen-like 6.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCAGGAAGTCCAATTCCTCCT	0.353000													41	76					0	0	0.014410	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90503237	90503237	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr9:90503237G>A	ENST00000325643.5	+	4	3901	c.3835G>A	c.(3835-3837)Gga>Aga	p.G1279R		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CCCCAGGAAAGGAGGCACACG	0.552000													21	2					0	0	0.002780	0	0
ZBTB12	221527	broad.mit.edu	37	6	31868444	31868444	+	Silent	SNP	C	C	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:31868444C>A	ENST00000375527.2	-	2	814	c.639G>T	c.(637-639)gtG>gtT	p.V213V	C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						GGGCCGACTCCACCTTGACGA	0.617000													220	282					9.13219e-98	1.90048e-97	0.014410	1	0
CDK13	8621	broad.mit.edu	37	7	40134079	40134079	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:40134079G>C	ENST00000181839.4	+	14	4644	c.4039G>C	c.(4039-4041)Gct>Cct	p.A1347P	CDK13_ENST00000340829.5_Missense_Mutation_p.A1287P	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1347					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TTTCTCTTCTGCTCCTTATGT	0.423000													25	38					0	0	0.004656	0	0
MKX	283078	broad.mit.edu	37	10	28023715	28023715	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:28023715C>T	ENST00000375790.5	-	5	940	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	MKX_ENST00000419761.1_Missense_Mutation_p.E170K			Q8IYA7	MKX_HUMAN	mohawk homeobox	170					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GGAGGATTTTCTCCATCTAAA	0.413000													23	3					0	0	0.002780	0	0
FLG	2312	broad.mit.edu	37	1	152287016	152287016	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:152287016C>T	ENST00000368799.1	-	3	381	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	116					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTTTTCTTCCTGTTTATTA	0.378000									Ichthyosis				50	65					0	0	0.014410	0	0
ZNF670	93474	broad.mit.edu	37	1	247201179	247201179	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:247201179T>A	ENST00000366503.2	-	4	900	c.742A>T	c.(742-744)Act>Tct	p.T248S		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			TTCTCTCCAGTATGAGATCTT	0.398000													44	2					0	0	0.010771	0	0
HTR3A	3359	broad.mit.edu	37	11	113856811	113856811	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:113856811G>A	ENST00000504030.2	+	6	1064	c.619G>A	c.(619-621)Gga>Aga	p.G207R	HTR3A_ENST00000355556.2_Missense_Mutation_p.G213R|HTR3A_ENST00000375498.2_Missense_Mutation_p.G213R|HTR3A_ENST00000299961.5_Missense_Mutation_p.G192R|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000506841.2_Missense_Mutation_p.G207R			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	207					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CATGAACCAGGGAGAGTGGGA	0.493000													111	17					0	0	0.014410	0	0
PCDH20	64881	broad.mit.edu	37	13	61986484	61986484	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr13:61986484G>A	ENST00000409186.1	-	5	3853	c.1748C>T	c.(1747-1749)tCc>tTc	p.S583F	PCDH20_ENST00000409204.4_Missense_Mutation_p.S583F			Q8N6Y1	PCD20_HUMAN	protocadherin 20	556	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ACTGTCTAAGGAAAAATATGA	0.453000													35	46					0	0	0.003271	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64747412	64747412	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr5:64747412G>A	ENST00000536360.1	-	7	1776	c.963C>T	c.(961-963)tcC>tcT	p.S321S				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	321	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		AGCTATCGAGGGACTTGTCTG	0.413000													26	0					0	0	0.005443	0	0
ZEB2	9839	broad.mit.edu	37	2	145147503	145147503	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:145147503G>A	ENST00000558170.2	-	10	4344	c.3160C>T	c.(3160-3162)Ccc>Tcc	p.P1054S	ZEB2_ENST00000409487.3_Missense_Mutation_p.P1054S|ZEB2_ENST00000303660.4_Missense_Mutation_p.P1054S|ZEB2_ENST00000539609.3_Missense_Mutation_p.P1030S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1054						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CACTGATAGGGCTTCTCGCCC	0.507000													32	45					0	0	0.003271	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882709	228882709	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:228882709C>T	ENST00000392056.3	-	7	2907	c.2861G>A	c.(2860-2862)gGa>gAa	p.G954E	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G954E	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	954						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGGTTGTTTTCCACTGGAGTT	0.493000													51	53					0	0	0.014410	0	0
FAT4	79633	broad.mit.edu	37	4	126329908	126329908	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:126329908G>A	ENST00000394329.3	+	4	5892	c.5879G>A	c.(5878-5880)gGa>gAa	p.G1960E	FAT4_ENST00000335110.5_Missense_Mutation_p.G258E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1960	Cadherin 19.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTACCTGTGGGATCTACTGTT	0.284000													24	30					0	0	0.007291	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274206	39274206	+	Missense_Mutation	SNP	C	C	T	rs79388709		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:39274206C>T	ENST00000391413.2	-	1	400	c.362G>A	c.(361-363)aGa>aAa	p.R121K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	121	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.R121K(5)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcactggggtctgcagcagct	0.652000													4	37					0	0	0.000602	0	0
COX10	1352	broad.mit.edu	37	17	14110213	14110213	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:14110213C>T	ENST00000261643.3	+	7	1092	c.1015C>T	c.(1015-1017)Cgg>Tgg	p.R339W	COX10_ENST00000536205.1_Missense_Mutation_p.R147W|COX10_ENST00000537334.1_Missense_Mutation_p.R122W	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	339					heme a biosynthetic process|heme O 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)		AGACTACTCCCGGGGCGGCTA	0.672000													44	39					0	0	0.014410	0	0
HOXD11	3237	broad.mit.edu	37	2	176973654	176973654	+	Silent	SNP	G	G	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:176973654G>T	ENST00000249504.5	+	2	871	c.801G>T	c.(799-801)cgG>cgT	p.R267R	HOXD10_ENST00000490088.2_3'UTR|HOXD11_ENST00000498438.1_3'UTR	NM_021192.2	NP_067015.2	P31277	HXD11_HUMAN	homeobox D11	267						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		AGCGGTCCCGGAAAAAGCGCT	0.587000			T	NUP98	AML								68	45					8.78217e-53	1.82007e-52	0.014410	1	0
PCDH18	54510	broad.mit.edu	37	4	138451472	138451472	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:138451472G>A	ENST00000344876.4	-	1	2157	c.1771C>T	c.(1771-1773)Ccc>Tcc	p.P591S	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.P591S|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.P371S	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	591	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GCCCCTTTGGGAATGGTGATT	0.458000													62	80					0	0	0.014410	0	0
SH2B1	25970	broad.mit.edu	37	16	28880340	28880340	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr16:28880340C>T	ENST00000337120.5	+	3	4346	c.1055C>T	c.(1054-1056)tCc>tTc	p.S352F	SH2B1_ENST00000322610.8_Missense_Mutation_p.S352F|SH2B1_ENST00000359285.5_Missense_Mutation_p.S352F|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000395532.4_Missense_Mutation_p.S352F|SH2B1_ENST00000538342.1_Missense_Mutation_p.S16F|SH2B1_ENST00000545570.1_Missense_Mutation_p.S42F	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	352	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|PH.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GAAGGTCCATCCGAGTATATC	0.552000													34	44					0	0	0.009718	0	0
SLIT2	9353	broad.mit.edu	37	4	20550726	20550726	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:20550726G>A	ENST00000504154.1	+	24	2716	c.2464G>A	c.(2464-2466)Gat>Aat	p.D822N	SLIT2_ENST00000273739.5_Missense_Mutation_p.D826N|SLIT2_ENST00000503837.1_Missense_Mutation_p.D818N|SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503823.1_Missense_Mutation_p.D814N	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	822					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCGCACCTTTGATGGATTAAA	0.353000													7	10					0	0	0.004482	0	0
CCL14	6358	broad.mit.edu	37	17	34313661	34313661	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:34313661G>A	ENST00000591669.1	+	2	233	c.107G>A	c.(106-108)gGa>gAa	p.G36E	CCL14_ENST00000394509.4_Missense_Mutation_p.P9S|CCL14_ENST00000435911.2_Missense_Mutation_p.P9S|CCL14_ENST00000586216.1_Missense_Mutation_p.P9S|CCL14_ENST00000536149.1_Missense_Mutation_p.P9S|CCL14_ENST00000480944.2_5'UTR|CCL15-CCL14_ENST00000481427.2_3'UTR|CTB-186H2.3_ENST00000593057.1_3'UTR																							AGGAAGAAGGGAATGGCAGCC	0.567000													24	32					0	0	0.003954	0	0
FLG	2312	broad.mit.edu	37	1	152281783	152281783	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:152281783C>T	ENST00000368799.1	-	3	5614	c.5579G>A	c.(5578-5580)gGa>gAa	p.G1860E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1860	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTTCTGGATCCTGACTGCCC	0.552000									Ichthyosis				193	201					0	0	0.014410	0	0
HELZ2	85441	broad.mit.edu	37	20	62198992	62198992	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr20:62198992G>A	ENST00000427522.2	-	1	435	c.12C>T	c.(10-12)tcC>tcT	p.S4S	RP4-697K14.12_ENST00000454223.1_RNA|HELZ2_ENST00000467148.1_Intron	NM_033405.3	NP_208384.3			helicase with zinc finger 2, transcriptional coactivator																		TGCGGGAGGGGGAGGAGCTCA	0.652000													6	11					0	0	0.003080	0	0
LRRC32	2615	broad.mit.edu	37	11	76372352	76372352	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:76372352G>A	ENST00000407242.2	-	3	527	c.285C>T	c.(283-285)gcC>gcT	p.A95A	LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Silent_p.A95A|LRRC32_ENST00000404995.1_Silent_p.A95A|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	95						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GGTGGGTCAGGGCCTGGAAGG	0.657000													52	42					0	0	0.014410	0	0
KCNH7	90134	broad.mit.edu	37	2	163279838	163279838	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:163279838A>G	ENST00000328032.4	-	8	2352	c.2141T>C	c.(2140-2142)aTg>aCg	p.M714T	KCNH7_ENST00000332142.5_Intron	NM_173162.2	NP_775185.1	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	0					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GAAAACAGACATACATACCAT	0.433000													45	39					0	0	0.013114	0	0
C6	729	broad.mit.edu	37	5	41153958	41153958	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr5:41153958C>T	ENST00000263413.3	-	15	2508	c.2244G>A	c.(2242-2244)ggG>ggA	p.G748G	C6_ENST00000337836.5_Silent_p.G748G	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	748	C5b-binding domain.|Sushi 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.G748G(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCCAGGAATTCCCCTGGCATG	0.473000													4	7					0	0	0.000602	0	0
FOS	2353	broad.mit.edu	37	14	75747343	75747343	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr14:75747343G>A	ENST00000303562.4	+	3	683	c.474G>A	c.(472-474)agG>agA	p.R158R	FOS_ENST00000555242.1_Silent_p.R158R|FOS_ENST00000535987.1_Intron|FOS_ENST00000555347.1_Silent_p.R10R|FOS_ENST00000555686.1_Silent_p.R44R	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	158					cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		GCAACCGGAGGAGGGAGCTGA	0.453000													12	1					0	0	0.013537	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24981828	24981828	+	Splice_Site	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr16:24981828C>T	ENST00000289968.6	-	4	341	c.272_splice	c.e4+1	p.G91_splice	ARHGAP17_ENST00000303665.5_Splice_Site_p.G91_splice|ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000441763.2_Splice_Site_p.G91_splice	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	91	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CAACTCTTACCCCAGGAGAGA	0.498000													92	100					0	0	0.014410	0	0
CHRNA3	1136	broad.mit.edu	37	15	78893597	78893597	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr15:78893597C>T	ENST00000326828.5	-	5	1771	c.1387G>A	c.(1387-1389)Gag>Aag	p.E463K	CHRNA3_ENST00000348639.3_Missense_Mutation_p.E463K	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	463					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATCCTTACCTCTTTGGCTTCA	0.398000													49	44					0	0	0.014410	0	0
HIPK2	28996	broad.mit.edu	37	7	139257875	139257875	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:139257875T>C	ENST00000406875.3	-	15	3489	c.3395A>G	c.(3394-3396)cAg>cGg	p.Q1132R	HIPK2_ENST00000428878.2_Missense_Mutation_p.Q1105R	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	1132	Autoinhibitory domain (AID).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGCAGTGTGCTGCACGGTGTG	0.711000													20	6					0	0	0.008871	0	0
SHANK1	50944	broad.mit.edu	37	19	51200373	51200373	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:51200373C>T	ENST00000293441.1	-	14	1962	c.1944G>A	c.(1942-1944)atG>atA	p.M648I	SHANK1_ENST00000359082.3_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.M648I	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	648					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CAATCCCATCCATTAAGCTTC	0.647000													53	48					0	0	0.014410	0	0
CYP2C19	1557	broad.mit.edu	37	10	96541601	96541601	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:96541601C>T	ENST00000371321.3	+	5	748	c.666C>T	c.(664-666)atC>atT	p.I222I	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	222					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TTCCCACTATCATTGATTATT	0.294000													7	9					0	0	0.001984	0	0
SEMA6D	80031	broad.mit.edu	37	15	48058107	48058107	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr15:48058107T>A	ENST00000316364.5	+	14	1908	c.1469T>A	c.(1468-1470)tTa>tAa	p.L490*	SEMA6D_ENST00000354744.4_Nonsense_Mutation_p.L490*|SEMA6D_ENST00000558816.1_Nonsense_Mutation_p.L490*|SEMA6D_ENST00000358066.4_Nonsense_Mutation_p.L490*|SEMA6D_ENST00000537942.1_Nonsense_Mutation_p.L490*|SEMA6D_ENST00000389432.2_Nonsense_Mutation_p.L490*|SEMA6D_ENST00000558014.1_Nonsense_Mutation_p.L490*|SEMA6D_ENST00000355997.3_Nonsense_Mutation_p.L490*|SEMA6D_ENST00000389428.3_Nonsense_Mutation_p.L490*|SEMA6D_ENST00000389433.2_Nonsense_Mutation_p.L490*|SEMA6D_ENST00000536845.2_Nonsense_Mutation_p.L490*	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	490	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GTCATCTCATTACAGTTGGAT	0.423000													12	23					0	0	0.010729	0	0
LOC401127	401127	broad.mit.edu	37	4	39482339	39482339	+	RNA	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:39482339G>A	ENST00000513652.1	+	0	412																											CATATGATGGGAAATTTGAGA	0.463000													26	31					0	0	0.003330	0	0
SDR16C5	195814	broad.mit.edu	37	8	57221525	57221525	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr8:57221525G>A	ENST00000396721.2	-	3	525	c.395C>T	c.(394-396)tCa>tTa	p.S132L	SDR16C5_ENST00000303749.3_Missense_Mutation_p.S176L|SDR16C5_ENST00000522671.1_Missense_Mutation_p.S176L			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	176					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			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						AGCTGAACTTGAAATGCAAAC	0.343000													30	56					0	0	0.003271	0	0
CSMD3	114788	broad.mit.edu	37	8	113299419	113299419	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr8:113299419C>T	ENST00000297405.5	-	58	9449	c.9205G>A	c.(9205-9207)Gaa>Aaa	p.E3069K	CSMD3_ENST00000455883.2_Missense_Mutation_p.E2900K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E2999K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E3029K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3069	Sushi 22.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAATTGCTTTCCTGTCTAGAG	0.433000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	8					0	0	0.004482	0	0
GPRC6A	222545	broad.mit.edu	37	6	117130756	117130756	+	Silent	SNP	T	T	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:117130756T>C	ENST00000310357.3	-	2	240	c.219A>G	c.(217-219)caA>caG	p.Q73Q	GPRC6A_ENST00000368549.3_Silent_p.Q73Q|GPRC6A_ENST00000530250.1_Silent_p.Q73Q	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	73					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGGCAAGAGTTTGAAGAAAAA	0.363000													13	1					0	0	0.004007	0	0
TRIM28	10155	broad.mit.edu	37	19	59057158	59057158	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:59057158C>T	ENST00000253024.5	+	3	770	c.481C>T	c.(481-483)Cca>Tca	p.P161S	TRIM28_ENST00000341753.6_Intron	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	161	RBCC domain.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GGATAATGCCCCAGCCACCAG	0.537000													38	30					0	0	0.008740	0	0
BCL11A	53335	broad.mit.edu	37	2	60695964	60695964	+	Silent	SNP	T	T	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:60695964T>C	ENST00000335712.6	-	3	617	c.390A>G	c.(388-390)aaA>aaG	p.K130K	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Intron|BCL11A_ENST00000356842.4_Silent_p.K130K|BCL11A_ENST00000359629.5_Silent_p.K130K|BCL11A_ENST00000538214.1_Intron|BCL11A_ENST00000537768.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	130	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				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)			AGTGCAGAAGTTTATCTGTGA	0.453000			T	IGH@	B-CLL								316	260					0	0	0.014410	0	0
KRT25	147183	broad.mit.edu	37	17	38907211	38907211	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:38907211C>T	ENST00000312150.4	-	5	1012	c.952G>A	c.(952-954)Gcc>Acc	p.A318T		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	318	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CATACCGTGGCTAGGAGAGAC	0.418000													43	35					0	0	0.014410	0	0
OR10H1	26539	broad.mit.edu	37	19	15918279	15918279	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:15918279C>T	ENST00000334920.2	-	1	657	c.569G>A	c.(568-570)gGa>gAa	p.G190E		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CACATCGTCTCCACAGGCCAA	0.562000													34	44					0	0	0.010818	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702272	27702272	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:27702272C>T	ENST00000438700.3	-	1	1025	c.908G>A	c.(907-909)gGa>gAa	p.G303E		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	303					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CAAGATGTATCCTCCGAAGAA	0.597000													39	8					0	0	0.006999	0	0
LRRC4	64101	broad.mit.edu	37	7	127670227	127670227	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:127670227T>C	ENST00000249363.3	-	2	724	c.467A>G	c.(466-468)aAc>aGc	p.N156S	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	156						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GATGGGGTTGTTGCGAAGCCA	0.587000													35	72					0	0	0.004289	0	0
XIRP2	129446	broad.mit.edu	37	2	168101437	168101437	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:168101437G>A	ENST00000409195.1	+	9	3624	c.3535G>A	c.(3535-3537)Gga>Aga	p.G1179R	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G1179R|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G957R|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1004					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGCATACAAGGAGAAGAAGT	0.383000													8	11					0	0	0.003080	0	0
ZNF416	55659	broad.mit.edu	37	19	58087261	58087261	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:58087261G>A	ENST00000196489.3	-	3	335	c.113C>T	c.(112-114)tCc>tTc	p.S38F		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	38	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TTCTTCCTGGGAGAAGTAAAT	0.532000													51	33					0	0	0.014410	0	0
SLC35F3	148641	broad.mit.edu	37	1	234452368	234452368	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:234452368C>T	ENST00000366618.3	+	5	994	c.849C>T	c.(847-849)gcC>gcT	p.A283A	SLC35F3_ENST00000366617.3_Silent_p.A214A	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	214					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CCATCCTCGCCATCGCTGGCA	0.577000													194	202					0	0	0.014410	0	0
CEACAM19	56971	broad.mit.edu	37	19	45185854	45185854	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:45185854C>T	ENST00000358777.4	+	7	1288	c.808C>T	c.(808-810)Cca>Tca	p.P270S	CEACAM19_ENST00000480278.1_3'UTR|CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000403660.3_Missense_Mutation_p.P270S	NM_001127893.1|NM_020219.3	NP_001121365.1|NP_064604.2	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	270						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				GCCCACACCCCCACACCTGCA	0.647000													15	34					0	0	0.004007	0	0
ZBTB46	140685	broad.mit.edu	37	20	62407078	62407078	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr20:62407078C>T	ENST00000245663.4	-	3	1325	c.1175G>A	c.(1174-1176)gGc>gAc	p.G392D	ZBTB46_ENST00000395104.1_Missense_Mutation_p.G392D|ZBTB46_ENST00000302995.2_Missense_Mutation_p.G392D	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CAGCAGGGAGCCGTCATCCCC	0.662000											OREG0026130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	39					0	0	0.010818	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86536995	86536995	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:86536995G>A	ENST00000450689.2	-	18	2734	c.2549C>T	c.(2548-2550)tCa>tTa	p.S850L	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.S779L|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.S683L|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.S610L	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	850						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCTGGGGACTGAAATCACTCC	0.358000													8	18					0	0	0.006214	0	0
MYO1B	4430	broad.mit.edu	37	2	192194691	192194691	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:192194691C>T	ENST00000392318.3	+	4	529	c.282C>T	c.(280-282)tcC>tcT	p.S94S	MYO1B_ENST00000392316.1_Silent_p.S94S|MYO1B_ENST00000339514.4_Silent_p.S94S|MYO1B_ENST00000304164.4_Silent_p.S94S	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	94	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CATACAGATCCCTACGAGATC	0.413000													106	99					0	0	0.014410	0	0
C1orf168	199920	broad.mit.edu	37	1	57258413	57258413	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:57258413G>A	ENST00000343433.6	-	2	153	c.73C>T	c.(73-75)Cca>Tca	p.P25S	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	25										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						ATAGGTCCTGGAAGAGGTGGA	0.418000													64	65					0	0	0.014410	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045702	142045702	+	RNA	SNP	A	A	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr7:142045702A>G	ENST00000390392.3	+	0	341																											ACTGAAAACAACAGTGTGCCA	0.473000													73	109					0	0	0.014410	0	0
UGDH	7358	broad.mit.edu	37	4	39523079	39523079	+	Silent	SNP	G	G	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:39523079G>C	ENST00000316423.6	-	2	396	c.54C>G	c.(52-54)ccC>ccG	p.P18P	UGDH_ENST00000507089.1_Intron|UGDH_ENST00000501493.2_Silent_p.P18P|UGDH_ENST00000515398.1_Intron|UGDH_ENST00000506179.1_Silent_p.P18P	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	18					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	CACTACATGTGGGTCCTCCAA	0.393000													40	51					0	0	0.008740	0	0
NPAS4	266743	broad.mit.edu	37	11	66191083	66191083	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:66191083G>A	ENST00000311034.2	+	6	1019	c.843G>A	c.(841-843)gtG>gtA	p.V281V		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	281	PAC.				transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CAGAGATGGTGGTGAGGCTAC	0.517000													46	59					0	0	0.014410	0	0
GFRAL	389400	broad.mit.edu	37	6	55196536	55196536	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:55196536G>A	ENST00000340465.2	+	2	132	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	16						integral to membrane	receptor activity	p.E16Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTTGGAAAATGAATACACTTC	0.333000													36	22					0	0	0.007835	0	0
RIMBP3	85376	broad.mit.edu	37	22	20457900	20457900	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr22:20457900C>T	ENST00000426804.1	-	1	3886	c.3402G>A	c.(3400-3402)aaG>aaA	p.K1134K		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CCTCACAAACCTTAAGCCCAT	0.567000													7	52					0	0	0.003080	0	0
TRPC4	7223	broad.mit.edu	37	13	38248468	38248468	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr13:38248468C>T	ENST00000379705.3	-	5	2128	c.1271G>A	c.(1270-1272)gGc>gAc	p.G424D	TRPC4_ENST00000379681.3_Missense_Mutation_p.G424D|TRPC4_ENST00000338947.5_Missense_Mutation_p.G251D|TRPC4_ENST00000358477.2_Missense_Mutation_p.G424D|TRPC4_ENST00000379679.1_Missense_Mutation_p.G251D|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000355779.2_Missense_Mutation_p.G424D|TRPC4_ENST00000426868.2_Missense_Mutation_p.G424D|TRPC4_ENST00000379673.2_Missense_Mutation_p.G424D|TRPC4_ENST00000447043.1_Missense_Mutation_p.G424D			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	424					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTGAAGTCCGCCATCCCACAT	0.338000													13	34					0	0	0.003163	0	0
FCRL4	83417	broad.mit.edu	37	1	157557755	157557755	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:157557755G>A	ENST00000271532.1	-	4	597	c.462C>T	c.(460-462)atC>atT	p.I154I	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	154	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TTGCTTGTGGGATAAGAAGAT	0.328000													13	21					0	0	0.002450	0	0
FAM84B	157638	broad.mit.edu	37	8	127569289	127569289	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr8:127569289A>T	ENST00000304916.3	-	2	801	c.346T>A	c.(346-348)Tgc>Agc	p.C116S	RP11-103H7.5_ENST00000524320.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	116						cytoplasm|plasma membrane	protein binding			lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			CCCGGCTTGCACTTGTTGAGC	0.617000													14	25					0	0	0.001855	0	0
SCRN2	90507	broad.mit.edu	37	17	45916883	45916883	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:45916883G>A	ENST00000407215.3	-	4	564	c.483C>T	c.(481-483)ttC>ttT	p.F161F	SCRN2_ENST00000290216.9_Silent_p.F161F|SCRN2_ENST00000584123.1_Silent_p.F169F			Q96FV2	SCRN2_HUMAN	secernin 2	161					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CAGCCAGCAGGAAGGTGCTAT	0.612000													75	127					0	0	0.014410	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110447480	110447480	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr8:110447480C>T	ENST00000378402.5	+	29	3506	c.3402C>T	c.(3400-3402)tcC>tcT	p.S1134S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1134	IPT/TIG 4.				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)			TTGCTGTGTCCATGGCTGATG	0.428000										HNSCC(38;0.096)			57	57					0	0	0.014410	0	0
GLYR1	84656	broad.mit.edu	37	16	4872902	4872902	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr16:4872902G>A	ENST00000321919.9	-	7	731	c.655C>T	c.(655-657)Cat>Tat	p.H219Y	GLYR1_ENST00000591451.1_Missense_Mutation_p.H219Y|GLYR1_ENST00000436648.5_Missense_Mutation_p.H138Y|GLYR1_ENST00000381983.3_Missense_Mutation_p.H219Y|GLYR1_ENST00000586901.1_5'UTR	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	219					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						AGCAGGAAATGATGGAAATGA	0.502000													52	76					0	0	0.014410	0	0
BRWD3	254065	broad.mit.edu	37	X	79984278	79984278	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:79984278G>A	ENST00000373275.4	-	14	1575	c.1359C>T	c.(1357-1359)atC>atT	p.I453I		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	453										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GCTGTCCTGTGATAGAATTCC	0.323000													15	15					0	0	0.002450	0	0
ROBO1	6091	broad.mit.edu	37	3	78684948	78684948	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr3:78684948G>A	ENST00000436010.2	-	21	4228	c.3231C>T	c.(3229-3231)atC>atT	p.I1077I	ROBO1_ENST00000495273.1_Silent_p.I1071I|ROBO1_ENST00000467549.1_Silent_p.I1016I|ROBO1_ENST00000464233.1_Silent_p.I1116I			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1116					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTTGCTCCACGATGTTGTACT	0.473000													17	40					0	0	0.012319	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516557	140516557	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr5:140516557C>T	ENST00000231134.5	+	1	1758	c.1541C>T	c.(1540-1542)gCc>gTc	p.A514V		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		514	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCTGTTTGCCCTCAGGTCG	0.697000													44	4					0	0	0.014410	0	0
RIN2	54453	broad.mit.edu	37	20	19956051	19956051	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr20:19956051T>C	ENST00000255006.6	+	8	1678	c.1529T>C	c.(1528-1530)cTg>cCg	p.L510P	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	461					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						AACAGCAGCCTGGAGGACTAC	0.582000													3	49					0	0	0.000602	0	0
SYTL4	94121	broad.mit.edu	37	X	99936257	99936257	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:99936257A>G	ENST00000455616.1	-	15	1871	c.1525T>C	c.(1525-1527)Tcc>Ccc	p.S509P	SYTL4_ENST00000276141.6_Missense_Mutation_p.S509P|SYTL4_ENST00000454200.2_Missense_Mutation_p.S511P|SYTL4_ENST00000263033.5_Missense_Mutation_p.S509P|SYTL4_ENST00000372989.1_Missense_Mutation_p.S509P			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	509					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGGGTTTTGGAGGCTGGGATG	0.512000													27	48					0	0	0.009535	0	0
KLHL18	23276	broad.mit.edu	37	3	47378199	47378199	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr3:47378199C>T	ENST00000232766.5	+	7	1093	c.1073C>T	c.(1072-1074)cCg>cTg	p.P358L	KLHL18_ENST00000455924.2_Missense_Mutation_p.P246L	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	358										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GCCTACAACCCGGAGACAGAC	0.597000													28	30					0	0	0.007291	0	0
POSTN	10631	broad.mit.edu	37	13	38156623	38156623	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr13:38156623G>A	ENST00000379747.4	-	10	1389	c.1272C>T	c.(1270-1272)ctC>ctT	p.L424L	POSTN_ENST00000379742.4_Silent_p.L424L|POSTN_ENST00000379743.4_Silent_p.L424L|POSTN_ENST00000541481.1_Silent_p.L424L|POSTN_ENST00000379749.4_Silent_p.L424L|POSTN_ENST00000541179.1_Silent_p.L424L	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	424	FAS1 3.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTAATTTAAGGAGGCGCTGAT	0.363000													25	22					0	0	0.004656	0	0
DNAJC10	54431	broad.mit.edu	37	2	183616504	183616504	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:183616504T>A	ENST00000264065.6	+	15	1841	c.1426T>A	c.(1426-1428)Ttt>Att	p.F476I		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	476	Thioredoxin 2.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGTTGATTTCTTTGCCCCCGT	0.368000													55	119					0	0	0.014410	0	0
DNAH10	196385	broad.mit.edu	37	12	124335560	124335560	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:124335560C>T	ENST00000409039.3	+	34	5899	c.5874C>T	c.(5872-5874)atC>atT	p.I1958I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1958	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGGTCGTGATCGTGCCCGACC	0.642000													32	5					0	0	0.013726	0	0
SUZ12	23512	broad.mit.edu	37	17	30303584	30303584	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:30303584G>A	ENST00000322652.5	+	8	1097	c.868G>A	c.(868-870)Gat>Aat	p.D290N	SUZ12_ENST00000580398.1_Missense_Mutation_p.D267N	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	290					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				AAATCGTGAGGATGGGGAAAA	0.333000			T	JAZF1	endometrial stromal tumours								20	16					0	0	0.014323	0	0
CXorf67	340602	broad.mit.edu	37	X	51150762	51150762	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:51150762C>T	ENST00000342995.2	+	1	996	c.894C>T	c.(892-894)gtC>gtT	p.V298V						chromosome X open reading frame 67											breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						CTGCGCCAGTCTCTGCCCCCC	0.746000													12	0					0	0	0.013537	0	0
HTR2A	3356	broad.mit.edu	37	13	47466685	47466685	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr13:47466685C>T	ENST00000378688.4	-	2	584	c.453G>A	c.(451-453)tgG>tgA	p.W151*	HTR2A_ENST00000543956.1_Nonsense_Mutation_p.W67*|HTR2A_ENST00000542664.1_Nonsense_Mutation_p.W151*			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	151					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CCAGGTAAATCCAGACTGCAC	0.592000													82	81					0	0	0.014410	0	0
ABCA9	10350	broad.mit.edu	37	17	67028394	67028394	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:67028394G>A	ENST00000340001.4	-	10	1511	c.1300C>T	c.(1300-1302)Ccc>Tcc	p.P434S	ABCA9_ENST00000453985.2_Missense_Mutation_p.P434S|ABCA9_ENST00000370732.2_Missense_Mutation_p.P434S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	434					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AAAAACAAGGGAGAACATCGA	0.443000													23	19					0	0	0.004656	0	0
PTPRB	5787	broad.mit.edu	37	12	71029512	71029512	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr12:71029512C>T	ENST00000334414.6	-	2	434	c.390G>A	c.(388-390)tgG>tgA	p.W130*	PTPRB_ENST00000551525.1_Nonsense_Mutation_p.W129*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.W130*|PTPRB_ENST00000538174.2_5'UTR	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 2.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTATTTTCATCCAGCTATGGA	0.438000													25	18					0	0	0.002780	0	0
SYT7	9066	broad.mit.edu	37	11	61318916	61318916	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr11:61318916G>A	ENST00000263846.4	-	3	482	c.155C>T	c.(154-156)tCc>tTc	p.S52F	SYT7_ENST00000542836.1_Missense_Mutation_p.S52F|SYT7_ENST00000542670.1_Missense_Mutation_p.S52F|SYT7_ENST00000535826.1_Missense_Mutation_p.S52F|SYT7_ENST00000540677.1_Missense_Mutation_p.S52F|SYT7_ENST00000539008.1_Missense_Mutation_p.S52F	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	52						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGTCTCCAAGGAATTCTTGTA	0.592000													36	40					0	0	0.007835	0	0
SALL4	57167	broad.mit.edu	37	20	50418919	50418919	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr20:50418919T>A	ENST00000217086.4	-	1	140	c.29A>T	c.(28-30)cAg>cTg	p.Q10L	SALL4_ENST00000395997.3_Missense_Mutation_p.Q10L|SALL4_ENST00000371539.3_Missense_Mutation_p.Q10L	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	10					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTGATGTGCTGGGGTTTCGC	0.677000													42	52					0	0	0.014410	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459654	107459654	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:107459654G>A	ENST00000409382.3	-	2	1390	c.780C>T	c.(778-780)cgC>cgT	p.R260R	ST6GAL2_ENST00000409087.3_Silent_p.R260R|ST6GAL2_ENST00000361686.4_Silent_p.R260R	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	260					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GCGTCCGCACGCGCGCGCGGC	0.751000													4	3					0	0	0.009096	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212034	26212034	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:26212034G>A	ENST00000379034.1	+	2	220	c.71G>A	c.(70-72)gGt>gAt	p.G24D		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	24										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CAGCCACAGGGTCTCACGGGT	0.567000													25	1					0	0	0.006320	0	0
SPATA18	132671	broad.mit.edu	37	4	52948629	52948629	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:52948629G>A	ENST00000295213.4	+	10	1806	c.1432G>A	c.(1432-1434)Gac>Aac	p.D478N	SPATA18_ENST00000419395.2_Missense_Mutation_p.D446N	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	478					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CATGGAGAATGACTGTGTCAT	0.463000													39	31					0	0	0.004878	0	0
PRR14L	253143	broad.mit.edu	37	22	32097690	32097690	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr22:32097690G>A	ENST00000327423.6	-	7	6248	c.6059C>T	c.(6058-6060)cCt>cTt	p.P2020L	PRR14L_ENST00000434485.1_Intron|PRR14L_ENST00000397493.2_Missense_Mutation_p.P2020L	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	2020										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						ATCTGGCCTAGGAATGGTTTT	0.443000													37	38					0	0	0.010771	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67314183	67314183	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr16:67314183C>T	ENST00000360461.5	+	1	2771	c.236C>T	c.(235-237)tCg>tTg	p.S79L	PLEKHG4_ENST00000427155.2_Missense_Mutation_p.S79L|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.S79L|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.S79L	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	79					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GCAGATGAGTCGGGGGATGCC	0.627000													22	1					0	0	0.003330	0	0
CYP4F22	126410	broad.mit.edu	37	19	15651519	15651519	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:15651519C>T	ENST00000269703.2	+	8	1129	c.930C>T	c.(928-930)ctC>ctT	p.L310L	CYP4F22_ENST00000601005.2_Silent_p.L310L	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	310						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						ATGTGCTGCTCCTGGCCAGGG	0.587000													19	13					0	0	0.010504	0	0
PSG6	5675	broad.mit.edu	37	19	43411108	43411108	+	Silent	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:43411108C>T	ENST00000187910.2	-	5	1271	c.1206G>A	c.(1204-1206)aaG>aaA	p.K402K	PSG6_ENST00000292125.2_Silent_p.K402K|PSG6_ENST00000402603.4_Silent_p.K309K	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TGGAGATTTCCTTGCCAGTGG	0.448000													77	125					0	0	0.014410	0	0
LPHN2	23266	broad.mit.edu	37	1	82408790	82408790	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:82408790C>T	ENST00000370728.1	+	8	1180	c.535C>T	c.(535-537)Cgt>Tgt	p.R179C	LPHN2_ENST00000370721.1_Missense_Mutation_p.R183C|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Missense_Mutation_p.R179C|LPHN2_ENST00000370725.1_Missense_Mutation_p.R179C|LPHN2_ENST00000370713.1_Missense_Mutation_p.R179C|LPHN2_ENST00000370715.1_Missense_Mutation_p.R179C|LPHN2_ENST00000370717.2_Missense_Mutation_p.R179C|LPHN2_ENST00000359929.3_Missense_Mutation_p.R179C|LPHN2_ENST00000370723.1_Missense_Mutation_p.R179C|LPHN2_ENST00000335786.5_Missense_Mutation_p.R179C|LPHN2_ENST00000370727.1_Missense_Mutation_p.R179C|LPHN2_ENST00000370730.1_Missense_Mutation_p.R179C|LPHN2_ENST00000271029.4_Missense_Mutation_p.R179C|LPHN2_ENST00000394879.1_Missense_Mutation_p.R179C			O95490	LPHN2_HUMAN	latrophilin 2	179	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.R179C(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GACTCCCTATCGTACCGATAC	0.398000													16	22					0	0	0.006122	0	0
GPR116	221395	broad.mit.edu	37	6	46826619	46826619	+	Silent	SNP	G	G	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr6:46826619G>T	ENST00000283296.7	-	17	3309	c.3021C>A	c.(3019-3021)ctC>ctA	p.L1007L	GPR116_ENST00000265417.7_Silent_p.L1007L|GPR116_ENST00000362015.4_Silent_p.L1007L|GPR116_ENST00000456426.2_Silent_p.L865L|GPR116_ENST00000545669.1_Silent_p.L436L	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1007					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GTATTCCCAGGAGAGAACTAG	0.483000													22	72					2.98393e-07	6.12073e-07	0.002780	1	0
LYPLA2	11313	broad.mit.edu	37	1	24119680	24119680	+	Silent	SNP	T	T	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:24119680T>C	ENST00000374514.3	+	4	457	c.150T>C	c.(148-150)ccT>ccC	p.P50P	LYPLA2_ENST00000374502.3_Silent_p.P50P|LYPLA2_ENST00000374505.2_Silent_p.P50P|LYPLA2_ENST00000495365.1_3'UTR|LYPLA2_ENST00000400061.1_Silent_p.P50P|LYPLA2_ENST00000374503.3_Silent_p.P50P	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II	50					fatty acid metabolic process	cytoplasm	hydrolase activity			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TCCGGCTCCCTCACGTCAAGT	0.627000													44	23					0	0	0.014410	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79080631	79080631	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr15:79080631C>T	ENST00000388820.4	-	8	1474	c.1264G>A	c.(1264-1266)Gac>Aac	p.D422N	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	422	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						GGAGCGGCGTCGTACAGGAGC	0.572000													52	76					0	0	0.014410	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													4	68					0	0	0.009096	0	0
ATXN7L3	56970	broad.mit.edu	37	17	42272039	42272039	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr17:42272039G>A	ENST00000389384.4	-	11	1049	c.741C>T	c.(739-741)gtC>gtT	p.V247V	ATXN7L3_ENST00000593073.1_5'UTR|ATXN7L3_ENST00000454077.2_Silent_p.V254V	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3	247	SCA7.				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCTCTGGAAGGACACTGGAAA	0.567000													22	33					0	0	0.002780	0	0
TTN	7273	broad.mit.edu	37	2	179434020	179434020	+	Silent	SNP	G	G	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr2:179434020G>A	ENST00000589042.1	-	326	77063	c.76839C>T	c.(76837-76839)atC>atT	p.I25613I	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.I16548I|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Silent_p.I23972I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.I23045I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.I16740I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.I16673I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23972	Fibronectin type-III 86.						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)			AGTCTTTGGTGATTTCTGTGA	0.408000													34	63					0	0	0.007835	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013428	73013428	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr4:73013428C>T	ENST00000308744.6	+	4	1566	c.1468C>T	c.(1468-1470)Cct>Tct	p.P490S	NPFFR2_ENST00000395999.1_Missense_Mutation_p.P391S|NPFFR2_ENST00000358749.3_Missense_Mutation_p.P388S|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000506359.1_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	490					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			ATTTCAAAACCCTCATGGGGA	0.378000													38	39					0	0	0.008740	0	0
CTBS	1486	broad.mit.edu	37	1	85039999	85040007	+	In_Frame_Del	DEL	GCAGCGCCA	GCAGCGCCA	-	rs3217269		TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr1:85039999_85040007delGCAGCGCCA	ENST00000370630.4	-	1	140_148	c.92_100delTGGCGCTGC	c.(91-102)cgg>c	p.LALR31del	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	31						lysosome	cation binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		GCCGCGAGCCgcagcgccagcagcgccag	0.718													3	6	---	---	---	---					
APC	324	broad.mit.edu	37	5	112175951	112175952	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr5:112175951_112175952insA	ENST00000457016.1	+	16	5040_5041	c.4660_4661insA	c.(4660-4662)aaafs	p.K1554fs	APC_ENST00000508376.2_Frame_Shift_Ins_p.K1554fs|APC_ENST00000257430.4_Frame_Shift_Ins_p.K1554fs|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1554	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.T1556fs*3(42)|p.E1554fs*5(2)|p.E1554fs*3(1)|p.?(1)|p.T1556fs*9(1)|p.?fs(1)|p.K1192fs*3(1)|p.E1554*(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAAAGAGGCAGAAAAAACTATT	0.342		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			25	5	---	---	---	---					
KCNN2	3781	broad.mit.edu	37	5	113698631	113698632	+	In_Frame_Ins	INS	-	-	GCC	rs34838882	by1000genomes	TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr5:113698631_113698632insGCC	ENST00000512097.3	+	2	1177_1178	c.159_160insGCC	c.(157-162)gcccgc>gcGCCccgc	p.53_54AR>APR	KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	53	Poly-Ala.					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CTGCAGCCGCTGCCGCCGCCGC	0.703													5	2	---	---	---	---					
RASSF4	83937	broad.mit.edu	37	10	45480284	45480285	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr10:45480284_45480285insC	ENST00000334940.6	+	6	558_559	c.424_425insC	c.(424-426)cccfs	p.P142fs	RASSF4_ENST00000340258.4_Frame_Shift_Ins_p.P133fs|RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000374417.2_Frame_Shift_Ins_p.A102fs			Q9H2L5	RASF4_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	133					cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGCAGAGGAGGCCCCCCAGCTG	0.668													59	101	---	---	---	---					
SERPINB11	89778	broad.mit.edu	37	18	61388270	61388271	+	RNA	DEL	AC	AC	-			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr18:61388270_61388271delAC	ENST00000544088.1	+	0	836				SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GTGCATGTTAACACACACACAC	0.386													2	4	---	---	---	---					
SBNO2	22904	broad.mit.edu	37	19	1132156	1132156	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chr19:1132156delG	ENST00000438103.2	-	1	64	c.41delC	c.(40-42)ctfs	p.P14fs	SBNO2_ENST00000361757.3_Intron|SBNO2_ENST00000587024.1_Intron	NM_001100122.1	NP_001093592.1	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	0					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGGGGCCAGGGGTCCCCCA	0.736													2	4	---	---	---	---					
CXorf22	170063	broad.mit.edu	37	X	35990026	35990026	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:35990026delA	ENST00000297866.5	+	13	2264	c.2198delA	c.(2197-2199)gafs	p.E733fs		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	733										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ACTCCACAAGAAAAACATGAT	0.294													2	4	---	---	---	---					
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT			TCGA-GN-A268-06A-11D-A196-08	TCGA-GN-A268-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a810fbc-0118-48d4-b06a-7c3d49d8e6ed	1171cada-eb0d-46f3-bd91-c0d0b81f2184	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(22-27)acatcg>acTATatcg	p.8_9TS>TIS		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													6	10	---	---	---	---