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
PIGG	54872	broad.mit.edu	37	4	533125	533125	+	Silent	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr4:533125G>T	ENST00000453061.2	+	13	3025	c.2919G>T	c.(2917-2919)acG>acT	p.T973T	PIGG_ENST00000504346.1_Silent_p.T884T|PIGG_ENST00000310340.5_Silent_p.T965T|PIGG_ENST00000383028.4_Silent_p.T840T|PIGG_ENST00000296306.7_3'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	973					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TATTCTTCACGGCAATGGATC	0.378000													15	13					4.7546e-09	5.56459e-09	1	1	0
RUVBL1	8607	broad.mit.edu	37	3	127806630	127806630	+	Silent	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:127806630G>A	ENST00000464873.1	-	9	1608	c.858C>T	c.(856-858)tcC>tcT	p.S286S	RUVBL1_ENST00000322623.5_Silent_p.S346S|RUVBL1_ENST00000417360.1_Silent_p.S346S|RUVBL1_ENST00000480616.1_5'UTR			Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	346					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		TGCCGTGAGGGGATGTGATGT	0.493000													40	57					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95523724	95523724	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr8:95523724C>G	ENST00000297591.5	-	13	3154	c.3079G>C	c.(3079-3081)Gag>Cag	p.E1027Q	KIAA1429_ENST00000437199.1_Missense_Mutation_p.E1027Q|KIAA1429_ENST00000421249.2_Missense_Mutation_p.E1027Q|KIAA1429_ENST00000523405.1_5'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1027					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TCCTTAAACTCAAAGGATCCA	0.448000													47	94					0	0	1	0	0
SLC34A3	142680	broad.mit.edu	37	9	140129078	140129078	+	Silent	SNP	G	G	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr9:140129078G>C	ENST00000538474.1	+	12	1454	c.1230G>C	c.(1228-1230)ctG>ctC	p.L410L	SLC34A3_ENST00000361134.2_Silent_p.L410L	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	410					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGATCAGTCTGGACCGGGCGT	0.687000													14	35					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28825725	28825725	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:28825725A>T	ENST00000422425.2	+	38	2722	c.2678A>T	c.(2677-2679)aAc>aTc	p.N893I	PLB1_ENST00000327757.5_Missense_Mutation_p.N904I|PLB1_ENST00000541605.1_5'UTR	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	904	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GACTTCCTGAACCCCACTATC	0.612000													31	101					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70049355	70049355	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:70049355G>T	ENST00000370598.1	+	26	4239	c.3418G>T	c.(3418-3420)Ggc>Tgc	p.G1140C	BAI3_ENST00000238918.8_Missense_Mutation_p.G346C|BAI3_ENST00000546190.1_Missense_Mutation_p.G104C	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1140					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTCATTGCAAGGCTTTGTTAT	0.433000													104	138					1.25439e-55	2.12257e-55	1	1	0
PKD1	5310	broad.mit.edu	37	16	2159029	2159029	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr16:2159029C>A	ENST00000262304.4	-	15	6347	c.6139G>T	c.(6139-6141)Ggc>Tgc	p.G2047C	PKD1_ENST00000423118.1_Missense_Mutation_p.G2047C	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2047	PKD 16.				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						TTCTCACTGCCCAGGGCGTTG	0.682000													33	35					2.80507e-11	3.44738e-11	1	1	0
POLE	5426	broad.mit.edu	37	12	133226000	133226000	+	Silent	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr12:133226000C>T	ENST00000320574.5	-	31	3940	c.3897G>A	c.(3895-3897)gaG>gaA	p.E1299E	POLE_ENST00000535270.1_Silent_p.E1272E	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1299					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGAGCACACCCTCTGCCGACT	0.667000								DNA polymerases (catalytic subunits)					6	89					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56565117	56565117	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:56565117G>T	ENST00000390649.3	+	13	3242	c.3242G>T	c.(3241-3243)gGg>gTg	p.G1081V		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1081						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)		GGTGACGGTGGGGTTGCTGCG	0.617000													40	43					3.4345e-17	4.7002e-17	1	1	0
PROKR2	128674	broad.mit.edu	37	20	5294819	5294819	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr20:5294819A>G	ENST00000546004.1	-	2	443	c.197T>C	c.(196-198)gTc>gCc	p.V66A	PROKR2_ENST00000217270.3_Missense_Mutation_p.V66A			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	66						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GATGCCGCAGACCAGCATGAT	0.537000										HNSCC(71;0.22)			61	43					0	0	1	0	0
APLNR	187	broad.mit.edu	37	11	57003454	57003454	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:57003454T>A	ENST00000606794.1	-	1	1221	c.1025A>T	c.(1024-1026)aAg>aTg	p.K342M		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	342						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GCTGGCTGACTTCTCCCCACT	0.637000													26	46					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71827933	71827933	+	Silent	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:71827933G>T	ENST00000258104.3	+	34	4081	c.3804G>T	c.(3802-3804)ggG>ggT	p.G1268G	DYSF_ENST00000409582.3_Silent_p.G1285G|DYSF_ENST00000410041.1_Silent_p.G1286G|DYSF_ENST00000394120.2_Silent_p.G1269G|DYSF_ENST00000409744.1_Silent_p.G1255G|DYSF_ENST00000409762.1_Silent_p.G1285G|DYSF_ENST00000409651.1_Silent_p.G1300G|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Silent_p.G1269G|DYSF_ENST00000429174.2_Silent_p.G1268G|DYSF_ENST00000410020.3_Silent_p.G1286G|DYSF_ENST00000413539.2_Silent_p.G1299G	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1268						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGCCGTCGGGGGAGCTGCTGG	0.627000													35	87					2.48696e-23	3.65073e-23	1	1	0
CCBE1	147372	broad.mit.edu	37	18	57115240	57115240	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr18:57115240G>T	ENST00000398179.2	-	5	539	c.77C>A	c.(76-78)gCc>gAc	p.A26D	CCBE1_ENST00000439986.4_Silent_p.G250G			Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	0					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CCCCAGGCAGGCCAGGAGGTC	0.587000													24	114					2.79863e-10	3.36718e-10	1	1	0
FLRT2	23768	broad.mit.edu	37	14	86088384	86088384	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr14:86088384G>T	ENST00000330753.4	+	2	1293	c.526G>T	c.(526-528)Gtt>Ttt	p.V176F	FLRT2_ENST00000554746.1_Missense_Mutation_p.V176F	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	176					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CAGTGTGCCTGTTGGGCTTCC	0.507000													22	41					2.37509e-13	3.03288e-13	1	1	0
ITLN2	142683	broad.mit.edu	37	1	160915019	160915019	+	Missense_Mutation	SNP	C	C	T	rs149928906	byFrequency	TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:160915019C>T	ENST00000368029.3	-	8	946	c.889G>A	c.(889-891)Gcc>Acc	p.A297T	RP11-544M22.1_ENST00000356006.3_RNA|ITLN2_ENST00000494442.1_5'UTR	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	297					signal transduction	extracellular region	receptor binding|sugar binding	p.A297T(1)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CAGTCAAAGGCGGAGAAGTCC	0.522000													9	55					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71500168	71500168	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr4:71500168G>T	ENST00000396073.3	+	6	635	c.354G>T	c.(352-354)caG>caT	p.Q118H		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	118					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AGACTGATCAGACCCAAGAAA	0.507000													70	39					3.8128e-34	6.12008e-34	1	1	0
UMOD	7369	broad.mit.edu	37	16	20344650	20344650	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr16:20344650G>C	ENST00000396134.2	-	12	2131	c.2008C>G	c.(2008-2010)Ctg>Gtg	p.L670V	UMOD_ENST00000570689.1_Missense_Mutation_p.L637V|UMOD_ENST00000302509.4_Missense_Mutation_p.L637V|UMOD_ENST00000424589.1_Missense_Mutation_p.L670V|UMOD_ENST00000396138.4_Missense_Mutation_p.L686V|UMOD_ENST00000396142.2_Missense_Mutation_p.L637V	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	637					cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGAAAAGTCAGGGTCAAGGTG	0.572000													5	38					0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53244010	53244010	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chrX:53244010C>A	ENST00000452825.3	-	6	1314	c.782G>T	c.(781-783)cGg>cTg	p.R261L	KDM5C_ENST00000375379.3_Missense_Mutation_p.R328L|KDM5C_ENST00000375383.3_Missense_Mutation_p.R287L|KDM5C_ENST00000375401.3_Missense_Mutation_p.R328L|KDM5C_ENST00000404049.3_Missense_Mutation_p.R327L	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	328					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						AGAACACATCCGGCAGACATA	0.507000			"""N, F, S"""		clear cell renal carcinoma								25	6					1.80694e-10	2.18551e-10	1	1	0
SERPINI1	5274	broad.mit.edu	37	3	167512563	167512563	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:167512563G>A	ENST00000295777.5	+	5	1263	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	SERPINI1_ENST00000446050.2_Missense_Mutation_p.E278K	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	278					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						GCTGGTTGAAGAATGGGCAAA	0.478000													19	60					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745948	77745948	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:77745948C>A	ENST00000409088.3	-	3	1461	c.1047G>T	c.(1045-1047)aaG>aaT	p.K349N	LRRTM4_ENST00000409093.1_Missense_Mutation_p.K349N|LRRTM4_ENST00000409911.1_Missense_Mutation_p.K350N|LRRTM4_ENST00000409884.1_Missense_Mutation_p.K349N|LRRTM4_ENST00000409282.1_Missense_Mutation_p.K350N	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	349	LRRCT.					integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CATCACTAACCTTTTCACCCT	0.433000													3	9					0.115264	0.115939	1	1	0
FAAH2	158584	broad.mit.edu	37	X	57407423	57407423	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chrX:57407423G>T	ENST00000374900.4	+	7	1077	c.957G>T	c.(955-957)atG>atT	p.M319I		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	319						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						CATTTTTAATGTCCAAAGTGG	0.303000										HNSCC(52;0.14)			49	18					3.4597e-24	5.12245e-24	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228563841	228563841	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:228563841C>A	ENST00000570156.2	+	110	25864	c.25790C>A	c.(25789-25791)cCc>cAc	p.P8597H	OBSCN_ENST00000422127.1_Missense_Mutation_p.P7640H|OBSCN_ENST00000366707.4_Missense_Mutation_p.P5274H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7640					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TACAGCAGCCCCTCGGAGCAA	0.627000													10	22					2.27111e-07	2.59178e-07	1	1	0
IGHV1-45	28466	broad.mit.edu	37	14	106963030	106963030	+	RNA	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr14:106963030C>A	ENST00000390621.2	-	0	309																											TGACTCTGTCCTGGAATTTCT	0.532000													64	132					1.73933e-33	2.77888e-33	1	1	0
UBXN11	91544	broad.mit.edu	37	1	26624543	26624543	+	Silent	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:26624543G>A	ENST00000374222.1	-	6	674	c.210C>T	c.(208-210)tcC>tcT	p.S70S	UBXN11_ENST00000374223.1_5'UTR|UBXN11_ENST00000436301.2_5'UTR|UBXN11_ENST00000535108.1_Intron|UBXN11_ENST00000374221.3_Silent_p.S70S|UBXN11_ENST00000374217.2_Silent_p.S37S|UBXN11_ENST00000314675.7_Intron|UBXN11_ENST00000357089.4_Silent_p.S37S			Q5T124	UBX11_HUMAN	UBX domain protein 11	70						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						CCGAGTCATGGGATGCAGGGA	0.592000													12	18					0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33945143	33945143	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:33945143G>T	ENST00000361328.3	+	2	407	c.254G>T	c.(253-255)cGt>cTt	p.R85L	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.R85L|ZSCAN20_ENST00000480917.1_3'UTR	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	85	SCAN box.				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCGGAGATCCGTCTCAAAGAG	0.607000													15	50					1.49906e-05	1.63469e-05	1	1	0
EXPH5	23086	broad.mit.edu	37	11	108383990	108383990	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:108383990C>A	ENST00000265843.4	-	6	2354	c.2244G>T	c.(2242-2244)caG>caT	p.Q748H	EXPH5_ENST00000443411.1_Missense_Mutation_p.Q560H|EXPH5_ENST00000525344.1_Missense_Mutation_p.Q741H|EXPH5_ENST00000428840.1_Missense_Mutation_p.Q672H	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	748					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TGGCTGAGTCCTGGGATAAGG	0.423000													41	87					1.67305e-13	2.14038e-13	1	1	0
RBM39	9584	broad.mit.edu	37	20	34309758	34309758	+	Silent	SNP	T	T	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr20:34309758T>C	ENST00000361162.6	-	9	1113	c.729A>G	c.(727-729)caA>caG	p.Q243Q	RBM39_ENST00000528062.3_Silent_p.Q221Q|RBM39_ENST00000253363.6_Silent_p.Q243Q|RBM39_ENST00000407261.4_Silent_p.Q86Q	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	243					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					CACTTCCCTTTTGTAAATTGT	0.408000													61	99					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10379906	10379906	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:10379906C>T	ENST00000397077.1	-	21	3814	c.3239G>A	c.(3238-3240)cGg>cAg	p.R1080Q	ATP2B2_ENST00000352432.4_Missense_Mutation_p.R1125Q|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R1111Q|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R1080Q|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R1125Q			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1125					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GATCTGGCCCCGCCGCAGCTC	0.682000													15	43					0	0	1	0	0
SPARCL1	8404	broad.mit.edu	37	4	88415300	88415300	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr4:88415300G>T	ENST00000418378.1	-	5	1223	c.652C>A	c.(652-654)Caa>Aaa	p.Q218K	SPARCL1_ENST00000282470.6_Missense_Mutation_p.Q218K|SPARCL1_ENST00000503414.1_Missense_Mutation_p.Q93K	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	218					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TTTCTTTCTTGGTTATCATTG	0.433000													265	170					1.06159e-97	1.82784e-97	1	1	0
GRM7	2917	broad.mit.edu	37	3	7620249	7620249	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:7620249G>C	ENST00000486284.1	+	8	1930	c.1656G>C	c.(1654-1656)caG>caC	p.Q552H	GRM7_ENST00000357716.4_Missense_Mutation_p.Q552H|GRM7_ENST00000402647.2_Missense_Mutation_p.Q552H|GRM7_ENST00000389336.4_Missense_Mutation_p.Q552H|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Missense_Mutation_p.Q552H	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	552					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	ATGGTTACCAGTACCAGTTTG	0.502000													32	84					0	0	1	0	0
JAG2	3714	broad.mit.edu	37	14	105615378	105615378	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr14:105615378G>A	ENST00000331782.3	-	14	2205	c.1802C>T	c.(1801-1803)gCa>gTa	p.A601V	JAG2_ENST00000347004.2_Missense_Mutation_p.A563V	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	601	EGF-like 10; atypical.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GCCGGAGGCTGCTGTGCCAGG	0.652000													3	20					0	0	1	0	0
ERGIC2	51290	broad.mit.edu	37	12	29523129	29523129	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr12:29523129C>A	ENST00000360150.4	-	3	208	c.133G>T	c.(133-135)Gct>Tct	p.A45S		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	45					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	GTTAATAAAGCCATAGTTGTA	0.274000													9	15					0.000274275	0.000289442	1	1	0
ZZEF1	23140	broad.mit.edu	37	17	3967957	3967957	+	Silent	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:3967957G>A	ENST00000381638.2	-	29	4540	c.4416C>T	c.(4414-4416)gcC>gcT	p.A1472A		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1472							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						GAGATACTGAGGCTTGGAAAT	0.572000													12	53					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168671774	168671774	+	Silent	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr5:168671774C>A	ENST00000519560.1	-	3	695	c.276G>T	c.(274-276)ctG>ctT	p.L92L	SLIT3_ENST00000332966.8_Silent_p.L92L|SLIT3_ENST00000521130.1_5'UTR|SLIT3_ENST00000404867.3_Silent_p.L92L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	92					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTTGTCTTCCAGATGCCTAC	0.522000													38	30					1.58521e-26	2.40937e-26	1	1	0
CTNNA2	1496	broad.mit.edu	37	2	80136825	80136825	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:80136825T>A	ENST00000466387.1	+	11	1682	c.958T>A	c.(958-960)Tcc>Acc	p.S320T	CTNNA2_ENST00000496558.1_Missense_Mutation_p.S320T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S354T|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S320T|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S320T|CTNNA2_ENST00000402739.4_Missense_Mutation_p.S320T			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	320					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GATGGCCGACTCCTCCTGCAC	0.647000													26	75					0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33513543	33513543	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:33513543T>C	ENST00000268876.5	+	20	2858	c.2761T>C	c.(2761-2763)Tgc>Cgc	p.C921R	UNC45B_ENST00000394570.2_Missense_Mutation_p.C919R|UNC45B_ENST00000591048.1_Missense_Mutation_p.C840R|UNC45B_ENST00000378449.1_Missense_Mutation_p.C840R|UNC45B_ENST00000433649.1_Missense_Mutation_p.C919R	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	921					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TCTCATCAAGTGCATGGATTA	0.527000													36	43					0	0	1	0	0
SLC16A10	117247	broad.mit.edu	37	6	111498669	111498669	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:111498669G>A	ENST00000368851.5	+	3	918	c.743G>A	c.(742-744)gGc>gAc	p.G248D	SLC16A10_ENST00000465319.1_3'UTR|SLC16A10_ENST00000368850.3_5'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	248					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		TTTCTGGCTGGCTTTACTTAC	0.463000													34	52					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126373597	126373597	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr4:126373597G>T	ENST00000394329.3	+	9	11439	c.11426G>T	c.(11425-11427)gGc>gTc	p.G3809V	FAT4_ENST00000335110.5_Missense_Mutation_p.G2107V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3809	EGF-like 1.				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						TGTGTGCATGGCCCATGTCAG	0.502000													44	33					1.15505e-17	1.59662e-17	1	1	0
TRIM58	25893	broad.mit.edu	37	1	248039618	248039618	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:248039618G>T	ENST00000366481.3	+	6	1336	c.1288G>T	c.(1288-1290)Gga>Tga	p.G430*	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	430	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGTCACAGATGGATCTTATAT	0.438000													34	172					2.48696e-23	3.65073e-23	1	1	0
TTN	7273	broad.mit.edu	37	2	179598224	179598224	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:179598224G>A	ENST00000589042.1	-	54	16020	c.15796C>T	c.(15796-15798)Cga>Tga	p.R5266*	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.R4022*|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.R4949*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4949	Ig-like 33.						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)			AGTTCTGCTCGCTCAATGATT	0.448000													33	291					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686198	125686198	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chrX:125686198G>T	ENST00000371126.1	-	1	636	c.394C>A	c.(394-396)Cgc>Agc	p.R132S		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	132										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGGGGAATGCGCGCGATGTGG	0.622000													25	17					9.57634e-11	1.17063e-10	1	1	0
GYS2	2998	broad.mit.edu	37	12	21695438	21695438	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr12:21695438G>T	ENST00000261195.2	-	13	1891	c.1637C>A	c.(1636-1638)aCt>aAt	p.T546N		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	546					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ACCGTAAGCAGTAGGATCAGC	0.502000													17	58					5.03518e-11	6.17709e-11	1	1	0
KDR	3791	broad.mit.edu	37	4	55971998	55971998	+	Splice_Site	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr4:55971998C>G	ENST00000263923.4	-	12	1941		c.e12+1			NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)						angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGAGTACTTACTGGTCACGTG	0.478000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			228	451					0	0	1	0	0
TAF15	8148	broad.mit.edu	37	17	34144737	34144737	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:34144737C>T	ENST00000588240.1	+	2	140	c.25C>T	c.(25-27)Cag>Tag	p.Q9*	TAF15_ENST00000592237.1_5'UTR|TAF15_ENST00000311979.3_Nonsense_Mutation_p.Q9*|AC015849.19_ENST00000588415.1_RNA	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	9	Gln/Gly/Ser/Tyr-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AAGTTACGGTCAGTCTGGGGG	0.338000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								13	58					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57522169	57522169	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr7:57522169C>A	ENST00000420713.1	+	2	155	c.43C>A	c.(43-45)Ctg>Atg	p.L15M		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TTTTTAGGGACTGTTGACATT	0.348000													21	14					2.4624e-09	2.91165e-09	1	1	0
NPFFR1	64106	broad.mit.edu	37	10	72020415	72020415	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr10:72020415C>A	ENST00000277942.5	-	3	410	c.403G>T	c.(403-405)Gtg>Ttg	p.V135L		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	135						integral to membrane|plasma membrane	neuropeptide receptor activity			endometrium(2)|lung(1)	3						GCAATGGCCACCAGTGTGAAA	0.567000													7	3					0.307466	0.307466	1	1	0
CRISP1	167	broad.mit.edu	37	6	49803156	49803156	+	Splice_Site	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:49803156G>A	ENST00000335847.4	-	8	724	c.622_splice	c.e8-1	p.T208_splice	CRISP1_ENST00000329411.5_Splice_Site_p.D178_splice|CRISP1_ENST00000536021.1_Splice_Site_p.D178_splice|CRISP1_ENST00000505118.1_Splice_Site_p.T208_splice|CRISP1_ENST00000507853.1_Splice_Site_p.D178_splice|CRISP1_ENST00000355791.2_Splice_Site_p.T208_splice	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	208					fusion of sperm to egg plasma membrane	extracellular space		p.T208S(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					GCAGGGGTTAGCTGAAAGAAA	0.348000													58	90					0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11995482	11995482	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr8:11995482G>T	ENST00000333796.3	-	1	1104	c.788C>A	c.(787-789)gCc>gAc	p.A263D	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	263					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CGTCTTGGAGGCCGGCGCCCT	0.493000													65	116					2.02627e-32	3.19277e-32	1	1	0
WDR75	84128	broad.mit.edu	37	2	190334801	190334801	+	Splice_Site	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:190334801G>A	ENST00000314761.4	+	17	1879		c.e17-1			NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75							nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TTTCCCTCTAGTGTTTGTATT	0.433000													36	172					0	0	1	0	0
CROT	54677	broad.mit.edu	37	7	86991146	86991146	+	Silent	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr7:86991146C>T	ENST00000331536.3	+	6	710	c.525C>T	c.(523-525)tcC>tcT	p.S175S	CROT_ENST00000419147.2_Silent_p.S203S|CROT_ENST00000442291.1_Silent_p.S175S	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	175					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	CTAGAGACTCCATTATGAATT	0.358000													100	55					0	0	1	0	0
CNOT2	4848	broad.mit.edu	37	12	70735910	70735910	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr12:70735910C>T	ENST00000551483.1	+	3	4310	c.155C>T	c.(154-156)tCa>tTa	p.S52L	CNOT2_ENST00000418359.3_Missense_Mutation_p.S401L|CNOT2_ENST00000229195.3_Missense_Mutation_p.S401L			Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	401					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			AAATTTGCGTCACCCTGGGCA	0.333000													59	115					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41069770	41069770	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chrX:41069770G>T	ENST00000324545.7	+	33	5657	c.5024G>T	c.(5023-5025)gGt>gTt	p.G1675V	USP9X_ENST00000378308.2_Missense_Mutation_p.G1675V	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1675					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AGGCTTTGGGGTGAGCCTGTT	0.333000													32	24					2.61193e-14	3.40493e-14	1	1	0
TRIM16	10626	broad.mit.edu	37	17	15535987	15535987	+	Splice_Site	SNP	T	T	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:15535987T>A	ENST00000455584.2	-	4	894	c.849_splice	c.e4-1	p.E284_splice	TRIM16_ENST00000579219.1_Intron|TRIM16_ENST00000578237.1_Splice_Site_p.E284_splice|TRIM16_ENST00000416464.2_Splice_Site_p.E154_splice|TRIM16_ENST00000336708.7_Splice_Site_p.E284_splice|TRIM16_ENST00000577886.1_Splice_Site_p.E68_splice																							CTTGCAGTACTCCTGCAGAAA	0.438000													13	37					0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50876716	50876716	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr22:50876716G>A	ENST00000359139.3	+	17	2266	c.1872G>A	c.(1870-1872)atG>atA	p.M624I	PPP6R2_ENST00000395744.3_Missense_Mutation_p.M624I|PPP6R2_ENST00000216061.5_Missense_Mutation_p.M651I|PPP6R2_ENST00000395741.3_Missense_Mutation_p.M625I	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	651						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CCCGGGTGATGGCCAGACCCA	0.622000													56	34					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105105853	105105853	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr8:105105853G>C	ENST00000436393.2	+	21	3117	c.2876G>C	c.(2875-2877)gGa>gCa	p.G959A	RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000262231.10_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	410					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GAACGCCCAGGAGGAAACAAG	0.388000										HNSCC(12;0.0054)			22	82					0	0	1	0	0
FBP2	8789	broad.mit.edu	37	9	97329552	97329552	+	Splice_Site	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr9:97329552C>A	ENST00000375337.3	-	5	771	c.705_splice	c.e5+1	p.E235_splice	PCAT7_ENST00000452148.2_RNA	NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	235					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				CTTCACTCACCTCAGGGAATT	0.493000													103	124					7.34945e-47	1.21372e-46	1	1	0
CBX2	84733	broad.mit.edu	37	17	77755714	77755714	+	Silent	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:77755714G>A	ENST00000269399.5	+	4	444	c.402G>A	c.(400-402)caG>caA	p.Q134Q	CBX2_ENST00000310942.4_Intron	NM_032647.3	NP_116036.1	Q14781	CBX2_HUMAN	chromobox homolog 2	0					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCTGCCAACAGTCTGTCCCTC	0.657000													19	124					0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125526641	125526641	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr10:125526641C>A	ENST00000241305.3	-	10	1481	c.1327G>T	c.(1327-1329)Gga>Tga	p.G443*	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	443					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GTCCAGCGTCCCAGGGACCAG	0.542000													53	35					2.22609e-26	3.37598e-26	1	1	0
EID2	163126	broad.mit.edu	37	19	40030230	40030230	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:40030230A>G	ENST00000390658.2	-	1	640	c.490T>C	c.(490-492)Tac>Cac	p.Y164H		NM_153232.3	NP_694964.3	Q8N6I1	EID2_HUMAN	EP300 interacting inhibitor of differentiation 2	164					cell differentiation|muscle organ development|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|regulation of cell proliferation|SMAD protein complex assembly|transcription, DNA-dependent|transforming growth factor beta receptor complex assembly	nucleus	SMAD binding			large_intestine(2)|lung(1)|urinary_tract(1)	4	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			GCAATCGGGTAATTTTCCAGA	0.542000													109	89					0	0	1	0	0
MEOX1	4222	broad.mit.edu	37	17	41738786	41738786	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:41738786C>T	ENST00000549132.1	-	1	145	c.29G>A	c.(28-30)cGc>cAc	p.R10H	MEOX1_ENST00000329168.3_Silent_p.P39P|MEOX1_ENST00000393661.2_Intron|MEOX1_ENST00000318579.4_Silent_p.P39P			P50221	MEOX1_HUMAN	mesenchyme homeobox 1	0						nucleus	sequence-specific DNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		ACGGGGTGGGCGGGTAGTGGG	0.662000													4	26					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717684	142717684	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chrX:142717684G>T	ENST00000381779.4	-	2	1466	c.1241C>A	c.(1240-1242)aCa>aAa	p.T414K	SLITRK4_ENST00000338017.4_Missense_Mutation_p.T414K|SLITRK4_ENST00000356928.1_Missense_Mutation_p.T414K	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	414						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTTAATCACTGTAATTTGATT	0.393000													20	100					8.00594e-06	8.80013e-06	1	1	0
C12orf60	144608	broad.mit.edu	37	12	14976097	14976097	+	Silent	SNP	A	A	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr12:14976097A>C	ENST00000330828.2	+	2	432	c.228A>C	c.(226-228)gcA>gcC	p.A76A	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	76										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						TAGTGGATGCAAGACATGACA	0.373000													42	101					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413735	178413735	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr5:178413735G>T	ENST00000231188.5	-	8	1698	c.1520C>A	c.(1519-1521)tCt>tAt	p.S507Y	GRM6_ENST00000517717.1_Missense_Mutation_p.S507Y|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	507					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GGGGTCGCCAGACCACTGCAG	0.692000													10	26					2.17888e-05	2.36849e-05	1	1	0
TP53	7157	broad.mit.edu	37	17	7577100	7577100	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:7577100T>C	ENST00000420246.2	-	8	970	c.838A>G	c.(838-840)Aga>Gga	p.R280G	TP53_ENST00000455263.2_Missense_Mutation_p.R280G|TP53_ENST00000445888.2_Missense_Mutation_p.R280G|TP53_ENST00000359597.4_Missense_Mutation_p.R280G|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R280G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R280G(20)|p.0?(8)|p.R280*(8)|p.?(2)|p.G279fs*65(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*65(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGCCGGTCTCTCCCAGGACAG	0.542000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			18	17					0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58512098	58512098	+	Translation_Start_Site	SNP	G	G	A	rs140530843		TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:58512098G>A	ENST00000536132.1	-	0	131				ZNF606_ENST00000547828.1_Missense_Mutation_p.T14M|ZNF606_ENST00000546715.1_Missense_Mutation_p.T14M|ZNF606_ENST00000552579.1_5'UTR|ZNF606_ENST00000547121.1_Missense_Mutation_p.T14M|ZNF606_ENST00000341164.4_Missense_Mutation_p.T14M			Q8WXB4	ZN606_HUMAN	zinc finger protein 606						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AGATTGGTCCGTAAGGGCACC	0.552000													25	80					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49957131	49957131	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chrX:49957131C>A	ENST00000376056.2	-	5	2356	c.2206G>T	c.(2206-2208)Ggt>Tgt	p.G736C	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Missense_Mutation_p.G736C|AKAP4_ENST00000376058.2_Missense_Mutation_p.G362C|AKAP4_ENST00000358526.2_Missense_Mutation_p.G745C			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	745					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GGCATTGCACCACTGTGAATG	0.483000													26	12					5.45024e-15	7.21448e-15	1	1	0
CSF1R	1436	broad.mit.edu	37	5	149452878	149452878	+	Silent	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr5:149452878G>A	ENST00000286301.3	-	7	1359	c.1068C>T	c.(1066-1068)acC>acT	p.T356T	CSF1R_ENST00000543093.1_Intron	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	356	Ig-like C2-type 4.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	ATGTGTCCTTGGTGGTAGCAT	0.552000													85	94					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212426761	212426761	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:212426761C>A	ENST00000342788.4	-	20	2664	c.2354G>T	c.(2353-2355)gGt>gTt	p.G785V	ERBB4_ENST00000402597.1_Missense_Mutation_p.G775V|ERBB4_ENST00000436443.1_Missense_Mutation_p.G785V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	785	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CAGACACACACCCAGCAACCG	0.453000										TSP Lung(8;0.080)			60	77					1.53716e-24	2.29073e-24	1	1	0
B3GNT6	192134	broad.mit.edu	37	11	76750775	76750775	+	Silent	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:76750775G>A	ENST00000533140.1	+	2	318	c.180G>A	c.(178-180)ccG>ccA	p.P60P	B3GNT6_ENST00000421061.1_Intron|B3GNT6_ENST00000354301.5_Silent_p.P60P			Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	60					O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						CTGACGAGCCGCCCTCGGAGC	0.741000													4	8					0	0	1	0	0
FGFR1	2260	broad.mit.edu	37	8	38285498	38285498	+	Silent	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr8:38285498G>A	ENST00000447712.2	-	5	1503	c.562C>T	c.(562-564)Ctg>Ttg	p.L188L	FGFR1_ENST00000326324.6_Silent_p.L97L|FGFR1_ENST00000532791.1_Silent_p.L188L|FGFR1_ENST00000356207.5_Silent_p.L99L|FGFR1_ENST00000425967.3_Silent_p.L219L|FGFR1_ENST00000397091.5_Silent_p.L186L|FGFR1_ENST00000397103.1_Silent_p.L97L|FGFR1_ENST00000397108.4_Silent_p.L186L|FGFR1_ENST00000397113.2_Silent_p.L186L|FGFR1_ENST00000341462.5_Silent_p.L189L|FGFR1_ENST00000335922.5_Silent_p.L180L	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	188	Ig-like C2-type 2.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	AACCAGCGCAGTGTGGGGTTT	0.483000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						48	62					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51223245	51223245	+	Silent	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr14:51223245C>G	ENST00000245441.5	-	18	4693	c.4503G>C	c.(4501-4503)acG>acC	p.T1501T	NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Silent_p.T1501T|NIN_ENST00000530997.2_Silent_p.T1501T|NIN_ENST00000389868.3_Intron|NIN_ENST00000382041.3_Silent_p.T1501T|NIN_ENST00000324330.9_Silent_p.T1501T	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1501					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCTCACTGCACGTGATCTGCA	0.433000			T	PDGFRB	MPD								9	51					0	0	1	0	0
FOXE1	2304	broad.mit.edu	37	9	100616544	100616544	+	Silent	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr9:100616544C>T	ENST00000375123.3	+	1	1009	c.348C>T	c.(346-348)cgC>cgT	p.R116R		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	116					cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				AGATCCCGCGCGAGGCCGGCC	0.637000													18	68					0	0	1	0	0
TRIM11	81559	broad.mit.edu	37	1	228582508	228582508	+	Silent	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:228582508C>A	ENST00000493030.2	-	5	4639	c.930G>T	c.(928-930)tcG>tcT	p.S310S	RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000284551.6_Silent_p.S435S|TRIM11_ENST00000460651.1_5'UTR			Q96F44	TRI11_HUMAN	tripartite motif containing 11	435	B30.2/SPRY.				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GCAGCGTCCCCGAGAAGGGGA	0.627000													5	25					0.0215528	0.0219359	1	1	0
GPX5	2880	broad.mit.edu	37	6	28500102	28500102	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:28500102G>T	ENST00000412168.2	+	4	453	c.364G>T	c.(364-366)Gtc>Ttc	p.V122F	GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_Missense_Mutation_p.M82I	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	122					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TTGCAGGTATGTCCGTCCAGG	0.428000													20	122					6.21321e-17	8.4692e-17	1	1	0
KEAP1	9817	broad.mit.edu	37	19	10602329	10602329	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:10602329C>A	ENST00000171111.5	-	3	1796	c.1249G>T	c.(1249-1251)Ggg>Tgg	p.G417W	KEAP1_ENST00000393623.2_Missense_Mutation_p.G417W	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.G417R(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			ACCCCCACCCCGATGCGGTTA	0.667000													20	8					8.34094e-07	9.36311e-07	1	1	0
WDR7	23335	broad.mit.edu	37	18	54483283	54483283	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr18:54483283C>A	ENST00000254442.3	+	20	3423	c.3212C>A	c.(3211-3213)gCg>gAg	p.A1071E	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.A1038E	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1071										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TCAGAAGCCGCGCAGACTATC	0.433000													7	27					0.0293803	0.0298584	1	1	0
MCTP1	79772	broad.mit.edu	37	5	94207047	94207047	+	Silent	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr5:94207047C>A	ENST00000515393.1	-	14	2111	c.2112G>T	c.(2110-2112)ctG>ctT	p.L704L	MCTP1_ENST00000312216.8_Silent_p.L483L|MCTP1_ENST00000505208.1_Silent_p.L483L|MCTP1_ENST00000429576.2_Silent_p.L437L|MCTP1_ENST00000505078.1_Silent_p.L220L	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	704	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CAACTTTGCCCAGAAAGTCAG	0.348000													31	29					6.00712e-18	8.33716e-18	1	1	0
TTC9B	148014	broad.mit.edu	37	19	40724124	40724124	+	Silent	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:40724124G>T	ENST00000311308.6	-	1	182	c.165C>A	c.(163-165)ggC>ggA	p.G55G		NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	55							binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						CGAGCGCCGCGCCCAGGCTCC	0.731000													6	10					1.06961e-07	1.23293e-07	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139614393	139614393	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr8:139614393C>T	ENST00000303045.6	-	60	4596	c.4150G>A	c.(4150-4152)Ggg>Agg	p.G1384R	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1364R|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1384	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCAGGCTTCCCAGGGACCCCC	0.577000										HNSCC(7;0.00092)			9	83					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802049	185802049	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:185802049G>C	ENST00000302277.6	+	4	2520	c.1926G>C	c.(1924-1926)caG>caC	p.Q642H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	642						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						CAGAAAAGCAGTATTTAGCTG	0.348000													45	163					0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48511156	48511156	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:48511156T>A	ENST00000446524.1	+	1	888	c.812T>A	c.(811-813)gTg>gAg	p.V271E		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TCAGTGAGTGTGTTTTATACA	0.423000													144	146					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540381	133540381	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:133540381G>T	ENST00000409261.1	-	14	4376	c.4003C>A	c.(4003-4005)Ctc>Atc	p.L1335I	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.L1335I	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1335							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ACACTGGGGAGACTCTCCAAC	0.602000													35	24					1.22384e-17	1.68492e-17	1	1	0
NPAP1	23742	broad.mit.edu	37	15	24922103	24922103	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr15:24922103G>T	ENST00000329468.2	+	1	1563	c.1089G>T	c.(1087-1089)gaG>gaT	p.E363D		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TGTCTGTTGAGGGAGACCTAC	0.537000													5	35					0.014758	0.0150426	1	1	0
CYSLTR2	57105	broad.mit.edu	37	13	49280982	49280982	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr13:49280982C>A	ENST00000282018.3	+	1	32	c.29C>A	c.(28-30)cCa>cAa	p.P10Q		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	10					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TCCTTGCAACCATCCATCTCC	0.368000													80	41					1.76421e-39	2.87207e-39	1	1	0
TCF7L2	6934	broad.mit.edu	37	10	114905797	114905797	+	Silent	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr10:114905797G>T	ENST00000545257.1	+	8	1323	c.816G>T	c.(814-816)acG>acT	p.T272T	TCF7L2_ENST00000534894.1_Silent_p.T272T|TCF7L2_ENST00000369395.1_Silent_p.T297T|TCF7L2_ENST00000543371.1_Silent_p.T272T|TCF7L2_ENST00000355717.4_Silent_p.T296T|TCF7L2_ENST00000369389.1_5'UTR|TCF7L2_ENST00000355995.4_Silent_p.T272T|TCF7L2_ENST00000369397.4_Silent_p.T249T|TCF7L2_ENST00000536810.1_Silent_p.T272T|TCF7L2_ENST00000352065.5_Silent_p.T249T|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000349937.2_Silent_p.T268T|TCF7L2_ENST00000538897.1_Silent_p.T272T			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	272	Mediates interaction with MAD2L2.|Pro-rich.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		ACCCAATCACGACAGGAGGAT	0.517000			T	VTI1A	colorectal								96	73					1.2711e-46	2.09412e-46	1	1	0
CACNA2D2	9254	broad.mit.edu	37	3	50431585	50431585	+	Silent	SNP	A	A	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:50431585A>C	ENST00000435965.1	-	4	593	c.420T>G	c.(418-420)gcT>gcG	p.A140A	CACNA2D2_ENST00000479441.1_Silent_p.A140A|CACNA2D2_ENST00000360963.3_Silent_p.A71A|CACNA2D2_ENST00000423994.2_Silent_p.A140A|CACNA2D2_ENST00000424201.2_Silent_p.A140A|CACNA2D2_ENST00000266039.3_Silent_p.A140A|CACNA2D2_ENST00000395083.1_Silent_p.A140A|CACNA2D2_ENST00000429770.1_Silent_p.A140A			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	140					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)	AGTTCTCTGCAGCATCAGCCA	0.602000													5	43					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144998189	144998189	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr8:144998189C>G	ENST00000322810.4	-	31	6488	c.6319G>C	c.(6319-6321)Gcg>Ccg	p.A2107P	PLEC_ENST00000398774.2_Missense_Mutation_p.A1938P|PLEC_ENST00000354589.3_Missense_Mutation_p.A1970P|PLEC_ENST00000354958.2_Missense_Mutation_p.A1948P|PLEC_ENST00000436759.2_Missense_Mutation_p.A1997P|PLEC_ENST00000356346.3_Missense_Mutation_p.A1956P|PLEC_ENST00000357649.2_Missense_Mutation_p.A1974P|PLEC_ENST00000527096.1_Missense_Mutation_p.A1993P|PLEC_ENST00000345136.3_Missense_Mutation_p.A1970P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2107	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTGCCTCGCAGCCTCCAGC	0.746000													5	9					0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124763836	124763836	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:124763836C>G	ENST00000306534.3	-	9	1909	c.1424G>C	c.(1423-1425)gGt>gCt	p.G475A	ROBO4_ENST00000533054.1_Missense_Mutation_p.G330A	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	475					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GAGTGCAACACCGCAGGTGGC	0.662000													9	14					0	0	1	0	0
OSBPL11	114885	broad.mit.edu	37	3	125271280	125271280	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:125271280C>T	ENST00000296220.5	-	9	1688	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	467					lipid transport		lipid binding	p.E467K(1)		NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						GATGCTACCTCGCTTTTTGGC	0.453000													41	70					0	0	1	0	0
OGG1	4968	broad.mit.edu	37	3	9792036	9792036	+	Silent	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:9792036G>A	ENST00000302036.7	+	1	409	c.66G>A	c.(64-66)ctG>ctA	p.L22L	OGG1_ENST00000302008.8_Silent_p.L22L|OGG1_ENST00000339511.5_Silent_p.L22L|OGG1_ENST00000449570.2_Silent_p.L22L|OGG1_ENST00000436092.1_3'UTR|OGG1_ENST00000383826.5_Silent_p.L22L|OGG1_ENST00000302003.7_Silent_p.L22L|OGG1_ENST00000349503.5_Silent_p.L22L|OGG1_ENST00000344629.7_Silent_p.L22L	NM_016821.2	NP_058214.1	O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	22					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					CTCCTGCCCTGTGGGCCTCCA	0.657000								Base excision repair (BER), DNA glycosylases					18	15					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50280729	50280729	+	Splice_Site	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:50280729C>A	ENST00000404971.1	-	22	5268		c.e22-1		NRXN1_ENST00000402717.3_Splice_Site|NRXN1_ENST00000401669.2_Splice_Site|NRXN1_ENST00000406859.3_Splice_Site|NRXN1_ENST00000406316.2_Splice_Site|NRXN1_ENST00000405472.3_Splice_Site|NRXN1_ENST00000342183.5_Splice_Site|NRXN1_ENST00000401710.1_Splice_Site	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 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)			AGCTGACGCCCTGTAAAAATA	0.413000													18	41					5.01169e-05	5.37135e-05	1	1	0
PTPRK	5796	broad.mit.edu	37	6	128316654	128316654	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:128316654C>A	ENST00000368227.3	-	19	3199	c.2833G>T	c.(2833-2835)Gta>Tta	p.V945L	PTPRK_ENST00000368207.3_Missense_Mutation_p.V959L|PTPRK_ENST00000368226.4_Missense_Mutation_p.V933L|PTPRK_ENST00000368213.5_Missense_Mutation_p.V933L|PTPRK_ENST00000368210.3_Missense_Mutation_p.V945L|PTPRK_ENST00000368215.3_Missense_Mutation_p.V932L|PTPRK_ENST00000532331.1_Missense_Mutation_p.V949L			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	932	Tyrosine-protein phosphatase 1.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TCATCCTCTACGGGTTGCAAA	0.303000													9	52					0.000274275	0.000289442	1	1	0
RECQL4	9401	broad.mit.edu	37	8	145741463	145741463	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr8:145741463C>T	ENST00000428558.2	-	5	1081	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	347					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCTGTCATGGCGGGCCAGCCG	0.632000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				5	49					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72991663	72991663	+	Silent	SNP	C	C	T	rs143678779		TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr16:72991663C>T	ENST00000268489.5	-	2	3054	c.2382G>A	c.(2380-2382)tcG>tcA	p.S794S	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	794					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTTTGGTCGGCGAGGGGGCCC	0.662000													58	44					0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	129245680	129245680	+	Silent	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr10:129245680G>A	ENST00000280333.6	+	51	5482	c.5373G>A	c.(5371-5373)acG>acA	p.T1791T		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1791					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ACGGCATGACGGGGGCGGACG	0.587000													7	9					0	0	1	0	0
SLC7A3	84889	broad.mit.edu	37	X	70146820	70146820	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chrX:70146820G>A	ENST00000374299.3	-	9	1502	c.1358C>T	c.(1357-1359)tCa>tTa	p.S453L	SLC7A3_ENST00000298085.4_Missense_Mutation_p.S453L			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	453					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CAACTTCTCTGATTCAGTAGT	0.458000													28	33					0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136599098	136599098	+	Silent	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr9:136599098C>T	ENST00000371872.4	-	2	455	c.198G>A	c.(196-198)acG>acA	p.T66T	SARDH_ENST00000298628.5_Silent_p.T66T|SARDH_ENST00000371867.1_5'UTR|SARDH_ENST00000439388.1_Silent_p.T66T|SARDH_ENST00000422262.2_Intron	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	66					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCACGTTGGCCGTGCTGGGCA	0.682000													18	42					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43822234	43822234	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr12:43822234G>T	ENST00000389420.3	-	26	3754	c.3755C>A	c.(3754-3756)cCt>cAt	p.P1252H	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P370H|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1252H	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1252	TSP type-1 8.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCCATCAAAGGGCGAACTTC	0.473000													17	41					2.23348e-06	2.47484e-06	1	1	0
ITGBL1	9358	broad.mit.edu	37	13	102227855	102227855	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr13:102227855G>T	ENST00000376180.3	+	4	763	c.544G>T	c.(544-546)Gat>Tat	p.D182Y	ITGBL1_ENST00000376162.3_Missense_Mutation_p.D89Y|ITGBL1_ENST00000545560.2_Missense_Mutation_p.D41Y	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	182	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGAGTGTGACGATAGAGAATG	0.348000													211	115					3.49336e-83	5.95518e-83	1	1	0
CPNE6	9362	broad.mit.edu	37	14	24546521	24546521	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr14:24546521C>G	ENST00000397016.2	+	16	1769	c.1458C>G	c.(1456-1458)gaC>gaG	p.D486E	CPNE6_ENST00000216775.2_Missense_Mutation_p.D486E|CPNE6_ENST00000537691.1_Missense_Mutation_p.D541E			O95741	CPNE6_HUMAN	copine VI (neuronal)	486	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		ATGGCGACGACGGCCCCTTGC	0.647000													16	54					0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113467	94113467	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:94113467G>A	ENST00000243673.2	-	4	1291	c.1120C>T	c.(1120-1122)Cca>Tca	p.P374S	GPR83_ENST00000539203.2_Missense_Mutation_p.P332S	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	374			P -> Q (in dbSNP:rs3740868).			integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGGGAGGGTGGCCTGTCCTCC	0.547000													8	95					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150881802	150881802	+	Silent	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:150881802G>T	ENST00000474524.1	+	8	1268	c.1230G>T	c.(1228-1230)ccG>ccT	p.P410P	MED12L_ENST00000309237.4_Silent_p.P410P|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Silent_p.P410P	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	410					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCCCCATGCCGGGTGGGAACA	0.522000													17	72					0.00074312	0.000773521	1	1	0
IL17RD	54756	broad.mit.edu	37	3	57132511	57132511	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:57132511C>T	ENST00000296318.7	-	12	1308	c.1220G>A	c.(1219-1221)tGg>tAg	p.W407*	IL17RD_ENST00000463523.1_Nonsense_Mutation_p.W263*|IL17RD_ENST00000427856.2_Nonsense_Mutation_p.W383*|IL17RD_ENST00000320057.5_Nonsense_Mutation_p.W263*	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	407	SEFIR.					Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		CTGGATGACCCATTCTCTCTG	0.488000													39	155					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12853416	12853416	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:12853416G>T	ENST00000332296.7	+	2	143	c.40G>T	c.(40-42)Ggg>Tgg	p.G14W		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	14										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|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)		GGAGCTGGCAGGGCAGAGCCT	0.552000													58	186					3.40343e-31	5.32609e-31	1	1	0
MCM3	4172	broad.mit.edu	37	6	52138553	52138553	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:52138553C>A	ENST00000596288.1	-	10	1698	c.1671G>T	c.(1669-1671)gaG>gaT	p.E557D	MCM3_ENST00000229854.7_Missense_Mutation_p.E512D|MCM3_ENST00000419835.2_Missense_Mutation_p.E466D	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	512					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CGCCATCCTGCTCCCCAGGTG	0.512000													17	95					4.35082e-09	5.11817e-09	1	1	0
NLRP4	147945	broad.mit.edu	37	19	56369489	56369489	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:56369489G>T	ENST00000301295.6	+	3	1152	c.730G>T	c.(730-732)Gat>Tat	p.D244Y	NLRP4_ENST00000346986.5_Missense_Mutation_p.D244Y|NLRP4_ENST00000587891.1_Missense_Mutation_p.D169Y	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	244	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAACGAACCCGATTCGGATCT	0.562000													63	88					5.10652e-33	8.12079e-33	1	1	0
TMEM200A	114801	broad.mit.edu	37	6	130762993	130762993	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:130762993G>A	ENST00000392429.1	+	2	3804	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K	TMEM200A_ENST00000296978.3_Missense_Mutation_p.E476K|TMEM200A_ENST00000545622.1_Missense_Mutation_p.E476K	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	476						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TGAACATGATGAGTTTTTGAG	0.313000													42	32					0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143790831	143790831	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:143790831G>T	ENST00000264170.4	+	12	1240	c.982G>T	c.(982-984)Gga>Tga	p.G328*	KYNU_ENST00000409512.1_Nonsense_Mutation_p.G328*	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	328					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	TGGGGTCTGTGGATTCCGAAT	0.383000													184	275					1.23031e-53	2.07671e-53	1	1	0
CACNA1A	773	broad.mit.edu	37	19	13410157	13410157	+	Nonsense_Mutation	SNP	G	G	A	rs79321699		TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:13410157G>A	ENST00000360228.5	-	19	2289	c.2290C>T	c.(2290-2292)Cag>Tag	p.Q764*	CACNA1A_ENST00000573710.2_Nonsense_Mutation_p.Q765*	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	765					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGATTCTTCTGTTGCTCTTTC	0.547000													164	77					0	0	1	0	0
DDX39B	7919	broad.mit.edu	37	6	31504459	31504459	+	Splice_Site	SNP	A	A	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:31504459A>C	ENST00000417556.2	-	6	1109	c.477_splice	c.e6-1	p.V160_splice	DDX39B_ENST00000458640.1_Splice_Site_p.V145_splice|DDX39B_ENST00000376177.2_Splice_Site_p.V145_splice|DDX39B_ENST00000415382.2_Splice_Site_p.V67_splice|DDX39B_ENST00000453105.2_Splice_Site_p.V98_splice|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000449074.2_3'UTR|DDX39B_ENST00000396172.1_Splice_Site_p.V145_splice			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	145	Helicase ATP-binding.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						AAAAACAGCAACCTGCCGAGC	0.498000													14	50					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	142238090	142238090	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:142238090A>G	ENST00000389484.3	-	3	1189	c.218T>C	c.(217-219)gTa>gCa	p.V73A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	73					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)		CTTGATTTCTACCTCCTCGGG	0.398000										TSP Lung(27;0.18)			42	71					0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17877620	17877620	+	Splice_Site	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:17877620G>T	ENST00000594202.1	+	7	615		c.e7+1		FCHO1_ENST00000389133.4_Splice_Site|FCHO1_ENST00000539407.1_Splice_Site|FCHO1_ENST00000596951.1_Splice_Site|FCHO1_ENST00000596536.1_Splice_Site|FCHO1_ENST00000252771.7_Splice_Site|FCHO1_ENST00000600676.1_Splice_Site|FCHO1_ENST00000597512.1_Splice_Site|FCHO1_ENST00000595033.1_Splice_Site	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1											NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CCACAAGAAGGTGTGTGTCGT	0.607000													32	21					2.85442e-18	3.99386e-18	1	1	0
PLA2G4E	123745	broad.mit.edu	37	15	42276027	42276027	+	Silent	SNP	A	A	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr15:42276027A>G	ENST00000399518.3	-	20	3018	c.2532T>C	c.(2530-2532)aaT>aaC	p.N844N	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Silent_p.N815N	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	832	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GAGTGTCCTTATTATTCAGGA	0.542000													6	8					0	0	1	0	0
KLHL26	55295	broad.mit.edu	37	19	18779362	18779362	+	Silent	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:18779362C>T	ENST00000300976.4	+	3	1245	c.1155C>T	c.(1153-1155)cgC>cgT	p.R385R	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	385										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CCTGCTACCGCTACGACCCCC	0.667000													4	37					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936990	15936990	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr5:15936990G>A	ENST00000504595.1	+	4	1652	c.1171G>A	c.(1171-1173)Gac>Aac	p.D391N	FBXL7_ENST00000510662.1_Missense_Mutation_p.D344N|FBXL7_ENST00000329673.7_Missense_Mutation_p.D379N	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	391					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						GGGCATCACGGACCACGGTGT	0.632000													20	27					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175293901	175293901	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:175293901G>C	ENST00000454872.1	+	10	1854	c.1726G>C	c.(1726-1728)Gat>Cat	p.D576H	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	576					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GATACAAGGTGATGCTGATTA	0.353000													44	122					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40626124	40626124	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr12:40626124A>G	ENST00000298910.7	+	3	344	c.286A>G	c.(286-288)Atg>Gtg	p.M96V	LRRK2_ENST00000343742.2_Missense_Mutation_p.M96V	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	96					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TCCAGGTACAATGCAAAGCTT	0.378000													18	101					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18688284	18688284	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr7:18688284A>T	ENST00000406451.3	+	11	1586	c.1436A>T	c.(1435-1437)cAg>cTg	p.Q479L	HDAC9_ENST00000401921.1_Missense_Mutation_p.Q438L|HDAC9_ENST00000432645.2_Missense_Mutation_p.Q479L|HDAC9_ENST00000524023.1_Missense_Mutation_p.Q402L|HDAC9_ENST00000406072.1_Missense_Mutation_p.Q466L|HDAC9_ENST00000417496.2_Missense_Mutation_p.Q477L|HDAC9_ENST00000441542.2_Missense_Mutation_p.Q482L|HDAC9_ENST00000456174.2_Missense_Mutation_p.Q451L|HDAC9_ENST00000405010.3_Missense_Mutation_p.Q479L|HDAC9_ENST00000428307.2_Missense_Mutation_p.Q435L	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	479					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AAGCAATACCAGCAGCAGATC	0.478000													18	14					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104987671	104987671	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr8:104987671C>A	ENST00000507740.1	+	13	2476	c.2240C>A	c.(2239-2241)cCt>cAt	p.P747H	RIMS2_ENST00000406091.3_Missense_Mutation_p.P955H|RIMS2_ENST00000436393.2_Missense_Mutation_p.P733H|RIMS2_ENST00000262231.10_Missense_Mutation_p.P794H	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1017	PDZ.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.P747H(2)|p.P955H(1)|p.P733H(1)|p.P1022H(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCAGGGTCTCCTCATCGAGTA	0.428000										HNSCC(12;0.0054)			25	61					2.44723e-14	3.20238e-14	1	1	0
SIGLEC16	400709	broad.mit.edu	37	19	50474938	50474938	+	RNA	SNP	C	C	G	rs138936320	by1000genomes	TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:50474938C>G	ENST00000602139.1	+	0	1013									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						TCCAGAGAACCTGAGAGTGAT	0.592000													8	54					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23509633	23509633	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr5:23509633G>T	ENST00000296682.3	+	3	306	c.124G>T	c.(124-126)Gag>Tag	p.E42*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	42	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAATGGGCAGAGATGGGAGA	0.423000										HNSCC(3;0.000094)			92	123					5.78178e-49	9.61764e-49	1	1	0
OTOF	9381	broad.mit.edu	37	2	26683809	26683809	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:26683809C>A	ENST00000272371.2	-	44	5749	c.5623G>T	c.(5623-5625)Gtg>Ttg	p.V1875L	OTOF_ENST00000403946.3_Missense_Mutation_p.V1875L|OTOF_ENST00000339598.3_Missense_Mutation_p.V1108L|OTOF_ENST00000338581.6_Missense_Mutation_p.V1108L|OTOF_ENST00000402415.3_Missense_Mutation_p.V1185L	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1875					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)					ACGAGGGGCACGTCCACCTCC	0.642000													15	35					2.62699e-14	3.41161e-14	1	1	0
RYR1	6261	broad.mit.edu	37	19	38969090	38969090	+	Silent	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:38969090C>T	ENST00000355481.4	+	31	4601	c.4470C>T	c.(4468-4470)aaC>aaT	p.N1490N	RYR1_ENST00000360985.3_Silent_p.N1490N|RYR1_ENST00000359596.3_Silent_p.N1490N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1490	6 X approximate repeats.|B30.2/SPRY 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGTGTAGCAACTGCTACATGG	0.607000													33	29					0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118159308	118159308	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr8:118159308G>A	ENST00000427715.2	+	5	474	c.40G>A	c.(40-42)Ggg>Agg	p.G14R	SLC30A8_ENST00000519688.1_Missense_Mutation_p.G14R|SLC30A8_ENST00000521243.1_Missense_Mutation_p.G14R|SLC30A8_ENST00000456015.2_Missense_Mutation_p.G63R	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	63					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CACAGAAAAGGGGGCGAATGA	0.512000													68	142					0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15890522	15890522	+	RNA	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:15890522C>T	ENST00000587443.2	-	0	275					NR_033864.1																						GCCACACTCACGAGGTCCTGG	0.552000													8	43					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19498303	19498303	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr16:19498303C>G	ENST00000396229.2	+	16	3149	c.2400C>G	c.(2398-2400)atC>atG	p.I800M	TMC5_ENST00000219821.5_Missense_Mutation_p.I554M|TMC5_ENST00000541464.1_Missense_Mutation_p.I748M|TMC5_ENST00000564959.1_Missense_Mutation_p.I483M|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000561503.1_Missense_Mutation_p.I441M|TMC5_ENST00000542583.2_Missense_Mutation_p.I800M|TMC5_ENST00000381414.4_Missense_Mutation_p.I800M	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	800						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						TGCCCTTTATCCAAATGATTA	0.512000													39	49					0	0	1	0	0
TCL1B	9623	broad.mit.edu	37	14	96152897	96152897	+	Silent	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr14:96152897C>G	ENST00000340722.7	+	1	144	c.93C>G	c.(91-93)acC>acG	p.T31T	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	31										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		AGGGGAGAACCTGGGTGACTG	0.647000													15	29					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13192130	13192130	+	Splice_Site	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr9:13192130C>A	ENST00000319217.7	-	15	2215	c.1968_splice	c.e15+1	p.K656_splice	MPDZ_ENST00000381022.2_Splice_Site_p.K656_splice|MPDZ_ENST00000447879.1_Splice_Site_p.K656_splice|MPDZ_ENST00000546205.1_Splice_Site_p.K656_splice|MPDZ_ENST00000536827.1_Splice_Site_p.K656_splice|MPDZ_ENST00000381015.4_Splice_Site_p.K656_splice|MPDZ_ENST00000541718.1_Splice_Site_p.K656_splice	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	656					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		AATCTGATACCTTTTCTGTTA	0.368000													5	12					0.000602214	0.000630673	1	1	0
JRK	8629	broad.mit.edu	37	8	143747159	143747159	+	RNA	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr8:143747159C>A	ENST00000507178.2	-	0	651									jerky homolog (mouse)													all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				gggcctgacacggggacgccc	0.652000													6	17					0.00307968	0.00317679	1	1	0
ZNF532	55205	broad.mit.edu	37	18	56586017	56586017	+	Silent	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr18:56586017G>T	ENST00000336078.4	+	4	1274	c.498G>T	c.(496-498)ggG>ggT	p.G166G	ZNF532_ENST00000591808.1_Silent_p.G166G|ZNF532_ENST00000589288.1_Silent_p.G166G|ZNF532_ENST00000591230.1_Silent_p.G166G|ZNF532_ENST00000591083.1_Silent_p.G166G	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TGTTGACGGGGTCGGCTCCCC	0.527000													57	156					8.28887e-21	1.19131e-20	1	1	0
CDKN2B	1030	broad.mit.edu	37	9	22008863	22008863	+	Silent	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr9:22008863C>T	ENST00000276925.6	-	1	499	c.90G>A	c.(88-90)gtG>gtA	p.V30V	CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B_ENST00000380142.4_Silent_p.V30V|CDKN2B-AS1_ENST00000577551.1_RNA|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B_ENST00000539462.1_Silent_p.V30V|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA	NM_004936.3|NM_078487.2	NP_004927.2|NP_511042.1	P42772	CDN2B_HUMAN	cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	30					cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		GGAGCTGTCGCACCTTCTCCA	0.721000											OREG0019127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	15					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70859924	70859924	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:70859924C>A	ENST00000322773.4	+	30	2126	c.2024C>A	c.(2023-2025)cCc>cAc	p.P675H	COL19A1_ENST00000393344.1_Missense_Mutation_p.P297H	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	675	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CTGCCAGGCCCCCCAGGTGAC	0.488000													36	163					2.66277e-13	3.38763e-13	1	1	0
CSNK1D	1453	broad.mit.edu	37	17	80210951	80210951	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:80210951T>C	ENST00000314028.6	-	4	855	c.506A>G	c.(505-507)gAg>gGg	p.E169G	CSNK1D_ENST00000578904.1_5'UTR|CSNK1D_ENST00000398519.5_Missense_Mutation_p.E169G|CSNK1D_ENST00000392334.2_Missense_Mutation_p.E169G	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	169	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			GTTCTTGTTCTCACGATAGGG	0.607000													22	97					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248028147	248028147	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:248028147G>T	ENST00000366481.3	+	3	705	c.657G>T	c.(655-657)aaG>aaT	p.K219N		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	219						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGGAGAGCAAGAGCCGGCTGG	0.682000													3	11					6.4e-05	6.82883e-05	1	1	0
REG1P	5969	broad.mit.edu	37	2	79364024	79364024	+	RNA	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:79364024G>T	ENST00000444841.1	-	0	314																											CAGACACCAGGTTACCTGAAT	0.517000													25	68					1.77063e-15	2.36199e-15	1	1	0
ZNF808	388558	broad.mit.edu	37	19	53057783	53057783	+	Silent	SNP	T	T	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:53057783T>C	ENST00000359798.4	+	5	1794	c.1614T>C	c.(1612-1614)tcT>tcC	p.S538S		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TAGAGAAATCTTACAAATGTA	0.398000													163	196					0	0	1	0	0
PNMAL2	57469	broad.mit.edu	37	19	46997611	46997611	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:46997611G>T	ENST00000599531.1	-	1	2144	c.1112C>A	c.(1111-1113)cCc>cAc	p.P371H	PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Intron	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	371										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CTGTCGGAGGGGGTCTCGCTT	0.627000													25	62					1.10923e-09	1.31613e-09	1	1	0
TMPRSS15	5651	broad.mit.edu	37	21	19770592	19770592	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr21:19770592C>A	ENST00000284885.3	-	2	233	c.200G>T	c.(199-201)gGa>gTa	p.G67V		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	67	SEA.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATATGTAACTCCGGATGTTAT	0.373000													23	36					1.85244e-09	2.19418e-09	1	1	0
SPEG	10290	broad.mit.edu	37	2	220309428	220309428	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:220309428G>T	ENST00000312358.7	+	2	574	c.442G>T	c.(442-444)Gag>Tag	p.E148*	SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Nonsense_Mutation_p.E44*	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	148					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCAGCGCCTGGAGCTTCGGGA	0.627000													11	71					1.58986e-06	1.77311e-06	1	1	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658179	72658179	+	RNA	SNP	T	T	C	rs147293416	by1000genomes	TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr7:72658179T>C	ENST00000425256.1	-	0	1732					NR_002164.1																						cagagtgatttcggatgaatt	0.507000													10	30					0	0	1	0	0
YY1AP1	55249	broad.mit.edu	37	1	155629946	155629946	+	Silent	SNP	G	G	A	rs145401844	byFrequency	TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:155629946G>A	ENST00000368340.5	-	10	2217	c.2109C>T	c.(2107-2109)ccC>ccT	p.P703P	YY1AP1_ENST00000355499.4_Silent_p.P585P|YY1AP1_ENST00000295566.4_Silent_p.P631P|YY1AP1_ENST00000368339.5_Silent_p.P723P|YY1AP1_ENST00000347088.5_Silent_p.P585P|YY1AP1_ENST00000368330.2_Silent_p.P585P|YY1AP1_ENST00000361831.5_Silent_p.P574P|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000535662.1_Silent_p.P431P|YY1AP1_ENST00000311573.5_Silent_p.P554P|YY1AP1_ENST00000359205.5_Silent_p.P574P|YY1AP1_ENST00000407221.1_Silent_p.P554P|YY1AP1_ENST00000404643.1_Silent_p.P565P|MSTO1_ENST00000452804.2_Intron	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GAATAGTCTGGGGACTCTGGG	0.532000													36	71					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7789871	7789871	+	Silent	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr5:7789871G>A	ENST00000338316.4	+	20	2675	c.2586G>A	c.(2584-2586)gcG>gcA	p.A862A	ADCY2_ENST00000537121.1_Silent_p.A682A	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	862					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TGCTTCCCGCGCACGTGGCTG	0.582000													27	65					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25972747	25972747	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:25972747C>G	ENST00000435504.4	-	12	1971	c.1678G>C	c.(1678-1680)Gat>Cat	p.D560H	ASXL2_ENST00000336112.4_Missense_Mutation_p.D532H|ASXL2_ENST00000272341.4_Missense_Mutation_p.D300H|ASXL2_ENST00000404843.1_Missense_Mutation_p.D300H			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCTCTGATCAACAAGAGTT	0.527000													30	88					0	0	1	0	0
GPHB5	122876	broad.mit.edu	37	14	63779818	63779818	+	RNA	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr14:63779818C>A	ENST00000539258.1	-	0	272							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5							extracellular region	hormone activity			breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		TAGGGGGGTTCCAGAATGGGT	0.428000													4	11					1.23904e-05	1.35329e-05	1	1	0
CST11	140880	broad.mit.edu	37	20	23433343	23433343	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr20:23433343C>T	ENST00000377009.3	-	1	139	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	CST11_ENST00000377007.3_Missense_Mutation_p.E36K	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	36					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GCCATCACTTCATGGACGCTT	0.507000													104	45					0	0	1	0	0
PPM1K	152926	broad.mit.edu	37	4	89199348	89199348	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr4:89199348C>A	ENST00000295908.6	-	2	777	c.388G>T	c.(388-390)Ggt>Tgt	p.G130C	PPM1K_ENST00000315194.4_Missense_Mutation_p.G130C|PPM1K_ENST00000513546.2_5'UTR|PPM1K_ENST00000506423.1_Missense_Mutation_p.G130C	NM_152542.3	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	130	PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		GCAGGTCCACCGTGTCCATCA	0.458000													26	17					8.24728e-16	1.10662e-15	1	1	0
RCOR3	55758	broad.mit.edu	37	1	211449606	211449606	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:211449606G>A	ENST00000367005.4	+	4	329	c.188G>A	c.(187-189)gGc>gAc	p.G63D	RCOR3_ENST00000367006.4_Missense_Mutation_p.G121D|RCOR3_ENST00000419091.2_Missense_Mutation_p.G121D|RCOR3_ENST00000452621.2_Missense_Mutation_p.G121D	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	63	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		AAGGCACTTGGCATGTTGTTC	0.378000													39	207					0	0	1	0	0
LINGO1	84894	broad.mit.edu	37	15	77907171	77907171	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr15:77907171T>A	ENST00000355300.6	-	2	1252	c.1078A>T	c.(1078-1080)Aac>Tac	p.N360Y	LINGO1_ENST00000561030.1_Missense_Mutation_p.N354Y	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	360					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GTCTCCAGGTTGCCCACCGAG	0.632000													6	12					0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9745934	9745934	+	Splice_Site	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:9745934G>T	ENST00000262441.5	+	4	1017		c.e4+1		GLP2R_ENST00000574745.1_Splice_Site	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor						G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	CAAGCAAAACGTGAGTTTGCT	0.577000													26	16					2.65835e-16	3.58798e-16	1	1	0
PAIP2B	400961	broad.mit.edu	37	2	71429701	71429701	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:71429701C>A	ENST00000244221.8	-	2	185	c.19G>T	c.(19-21)Gca>Tca	p.A7S		NM_020459.1	NP_065192.1	Q9ULR5	PAI2B_HUMAN	poly(A) binding protein interacting protein 2B	7					negative regulation of translational initiation		protein binding|translation repressor activity, nucleic acid binding			large_intestine(1)|lung(1)	2						GATGTATTTGCCATATTGGAT	0.378000													31	59					1.55811e-20	2.2347e-20	1	1	0
MST1R	4486	broad.mit.edu	37	3	49936631	49936631	+	Silent	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:49936631G>A	ENST00000296474.3	-	2	1323	c.1296C>T	c.(1294-1296)agC>agT	p.S432S	MST1R_ENST00000344206.4_Silent_p.S432S	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	432	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CACGTGAGAAGCTGCTACTGA	0.577000													40	116					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30702133	30702133	+	Silent	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr8:30702133C>A	ENST00000256246.2	-	1	4475	c.4401G>T	c.(4399-4401)gcG>gcT	p.A1467A		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1467										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTGCTTTTTCCGCTTGTTTAA	0.343000													33	64					2.61193e-14	3.40493e-14	1	1	0
LRRC7	57554	broad.mit.edu	37	1	70504935	70504935	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:70504935G>T	ENST00000310961.5	+	22	3747	c.3329G>T	c.(3328-3330)aGc>aTc	p.S1110I	LRRC7_ENST00000415775.2_Missense_Mutation_p.S389I|LRRC7_ENST00000035383.5_Missense_Mutation_p.S1105I			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1105						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CAGTTCGCAAGCCAAGGGGCC	0.547000													42	104					2.26627e-22	3.29858e-22	1	1	0
ASPN	54829	broad.mit.edu	37	9	95219656	95219656	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr9:95219656G>T	ENST00000375544.3	-	8	1300	c.1057C>A	c.(1057-1059)Ccg>Acg	p.P353T	ASPN_ENST00000375543.1_3'UTR|CENPP_ENST00000375587.3_Intron	NM_017680.4	NP_060150.4	Q9BXN1	ASPN_HUMAN	asporin	353					bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						TATTTCACCGGGTTGTTGAAT	0.373000													22	88					1.96895e-08	2.28106e-08	1	1	0
CRB1	23418	broad.mit.edu	37	1	197398713	197398713	+	Silent	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:197398713C>A	ENST00000367397.1	+	4	1812	c.954C>A	c.(952-954)gcC>gcA	p.A318A	CRB1_ENST00000544212.1_Silent_p.A418A|CRB1_ENST00000367400.3_Silent_p.A937A|CRB1_ENST00000367399.2_Silent_p.A825A|CRB1_ENST00000535699.1_Silent_p.A913A|CRB1_ENST00000538660.1_Intron			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	937	EGF-like 8.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTCACGGAGCCCAGTGCCAGC	0.527000													15	41					1.52009e-12	1.91264e-12	1	1	0
SLC7A6OS	84138	broad.mit.edu	37	16	68337950	68337950	+	Silent	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr16:68337950G>A	ENST00000263997.6	-	3	675	c.657C>T	c.(655-657)ccC>ccT	p.P219P		NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand	219					protein transport	cytoplasm|nucleus				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		CTTGGCTGTAGGGCTGCACGG	0.522000													41	26					0	0	1	0	0
REN	5972	broad.mit.edu	37	1	204124977	204124977	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:204124977T>C	ENST00000367195.2	-	8	1064	c.1021A>G	c.(1021-1023)Acg>Gcg	p.T341A	REN_ENST00000272190.8_Missense_Mutation_p.T344A			P00797	RENI_HUMAN	renin	344					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	CTGGTGAGCGTGTATTCTTTG	0.562000													3	23					0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20466255	20466255	+	Splice_Site	SNP	A	A	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr10:20466255A>T	ENST00000377252.3	+	9	1820		c.e9-1		PLXDC2_ENST00000377242.3_Splice_Site|PLXDC2_ENST00000377238.2_Splice_Site	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CCTCTTCCCTAGCATGCCTCC	0.418000													73	96					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41243908	41243908	+	Nonsense_Mutation	SNP	C	C	A	rs80356923		TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:41243908C>A	ENST00000309486.4	-	9	3779	c.2752G>T	c.(2752-2754)Gag>Tag	p.E918*	BRCA1_ENST00000346315.3_Nonsense_Mutation_p.E1214*|BRCA1_ENST00000471181.2_Nonsense_Mutation_p.E1214*|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000493795.1_Nonsense_Mutation_p.E1167*|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000357654.3_Nonsense_Mutation_p.E1214*|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000354071.3_Nonsense_Mutation_p.E1214*|BRCA1_ENST00000586385.1_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1214					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GATAAGTTCTCTTCTGAGGAC	0.458000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			55	46					3.4597e-24	5.12245e-24	1	1	0
FLT1	2321	broad.mit.edu	37	13	29041701	29041701	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr13:29041701G>T	ENST00000282397.4	-	2	369	c.118C>A	c.(118-120)Cag>Aag	p.Q40K	FLT1_ENST00000541932.1_Missense_Mutation_p.Q40K|FLT1_ENST00000539099.1_Missense_Mutation_p.Q40K	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	40	Ig-like C2-type 1.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ATGATGTGCTGGGTGCCTTTT	0.373000													10	7					6.40141e-05	6.82883e-05	1	1	0
LTBP2	4053	broad.mit.edu	37	14	75018955	75018955	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr14:75018955G>A	ENST00000261978.4	-	6	1720	c.1334C>T	c.(1333-1335)cCc>cTc	p.P445L	CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.P445L	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	445					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CAAGGCCCTGGGGCGGGACCC	0.692000													14	21					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52548454	52548454	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr13:52548454T>C	ENST00000242839.4	-	2	1058	c.902A>G	c.(901-903)tAt>tGt	p.Y301C	ATP7B_ENST00000542656.1_Missense_Mutation_p.Y269C|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Missense_Mutation_p.Y301C|ATP7B_ENST00000400370.3_Missense_Mutation_p.Y301C|ATP7B_ENST00000400366.3_Intron|ATP7B_ENST00000344297.5_Missense_Mutation_p.Y301C|ATP7B_ENST00000418097.2_Missense_Mutation_p.Y301C	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	301	HMA 3.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		AGAAGGGTCATACTTTACTTG	0.463000									Wilson disease				36	47					0	0	1	0	0
PBX3	5090	broad.mit.edu	37	9	128722999	128722999	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr9:128722999A>T	ENST00000373487.4	+	7	1023	c.943A>T	c.(943-945)Aag>Tag	p.K315*	PBX3_ENST00000342287.5_Nonsense_Mutation_p.K294*|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000373489.5_Nonsense_Mutation_p.K294*|PBX3_ENST00000373483.2_Nonsense_Mutation_p.K113*|PBX3_ENST00000447726.2_Nonsense_Mutation_p.K219*			P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	294					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						AATCAGGTACAAGAAGAACAT	0.463000													32	42					0	0	1	0	0
PVRL3	25945	broad.mit.edu	37	3	110852781	110852781	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:110852781G>T	ENST00000485303.1	+	6	1644	c.1369G>T	c.(1369-1371)Gtt>Ttt	p.V457F	PVRL3_ENST00000319792.3_3'UTR|PVRL3_ENST00000493615.1_Intron	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	457					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						ACAAATAGATGTTCTTCAACA	0.363000													17	59					1.99824e-07	2.28417e-07	1	1	0
ZNF471	57573	broad.mit.edu	37	19	57037102	57037102	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:57037102T>G	ENST00000308031.5	+	5	1799	c.1666T>G	c.(1666-1668)Tcc>Gcc	p.S556A	ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	556			S -> C (in dbSNP:rs16987303).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		CAGCCAAACTTCCAATCTTAC	0.408000													26	124					0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61460278	61460278	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr20:61460278G>T	ENST00000343916.3	+	19	961	c.958G>T	c.(958-960)Gag>Tag	p.E320*		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	320	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CTCACAGGGAGAGGCTGGTCG	0.721000													12	22					0.000151284	0.000160637	1	1	0
BAHCC1	57597	broad.mit.edu	37	17	79419767	79419767	+	Silent	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:79419767G>T	ENST00000307745.7	+	18	4335	c.4335G>T	c.(4333-4335)cgG>cgT	p.R1445R																								AGAGTTCACGGAGCCCTGCAC	0.697000													11	9					0.000978159	0.0010151	1	1	0
CCR1	1230	broad.mit.edu	37	3	46245637	46245637	+	Silent	SNP	G	G	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:46245637G>C	ENST00000296140.3	-	2	293	c.168C>G	c.(166-168)gtC>gtG	p.V56V	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	56					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CAAGGACCAGGACCACCAGGA	0.532000													9	43					0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155749970	155749970	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:155749970C>A	ENST00000159060.2	-	9	1205	c.1103G>T	c.(1102-1104)gGg>gTg	p.G368V		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	368	FAD-binding FR-type.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TCCCTCTGCCCCAAAGGCCTC	0.552000													25	87					3.28513e-13	4.17169e-13	1	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274545	39274545	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:39274545G>T	ENST00000391413.2	-	1	61	c.23C>A	c.(22-24)tCc>tAc	p.S8Y		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	8	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					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)			AGAGCACACGGAGCCACAACA	0.577000													26	20					1.64293e-13	2.10577e-13	1	1	0
FAM83C	128876	broad.mit.edu	37	20	33879676	33879676	+	Silent	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr20:33879676G>T	ENST00000374408.3	-	1	528	c.432C>A	c.(430-432)acC>acA	p.T144T		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	144										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCACAGCCTGGGTGGGGCTGA	0.622000													76	175					9.25274e-37	1.49921e-36	1	1	0
POTEG	404785	broad.mit.edu	37	14	19558993	19558993	+	Silent	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr14:19558993C>A	ENST00000409832.3	+	3	691	c.639C>A	c.(637-639)gcC>gcA	p.A213A		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	213										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						ACTGACAGGCCGTACAATGCC	0.383000													31	231					6.00712e-18	8.33716e-18	1	1	0
PLA2G4A	5321	broad.mit.edu	37	1	186915792	186915792	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:186915792G>T	ENST00000367466.3	+	11	1209	c.1057G>T	c.(1057-1059)Gaa>Taa	p.E353*	PLA2G4A_ENST00000442353.2_Nonsense_Mutation_p.E293*	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	353	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TAGTCCATACGAAATTGGCAT	0.348000													8	53					5.18039e-06	5.71257e-06	1	1	0
DIS3	22894	broad.mit.edu	37	13	73346415	73346415	+	Splice_Site	SNP	T	T	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr13:73346415T>C	ENST00000377767.4	-	10	1487		c.e10-2		DIS3_ENST00000545453.1_Splice_Site|DIS3_ENST00000377780.4_Splice_Site	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)						CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TTTCATGTCCTAGAAGACATG	0.343000										Multiple Myeloma(4;0.011)			246	25					0	0	1	0	0
MCPH1	79648	broad.mit.edu	37	8	6296558	6296558	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr8:6296558G>C	ENST00000344683.5	+	6	597	c.521G>C	c.(520-522)aGc>aCc	p.S174T	MCPH1_ENST00000519480.1_Missense_Mutation_p.S174T|MCPH1_ENST00000522905.1_Intron	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	174						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AGGCACCACAGCGCAATGGAG	0.323000													31	35					0	0	1	0	0
GGCX	2677	broad.mit.edu	37	2	85785696	85785696	+	Missense_Mutation	SNP	G	G	A	rs142918177		TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:85785696G>A	ENST00000233838.3	-	4	486	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	GGCX_ENST00000430215.3_Missense_Mutation_p.R79W	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	136					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	CAGCTTATCCGGTAGCACAGG	0.517000													25	79					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73240166	73240166	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr9:73240166A>T	ENST00000377110.2	-	13	1957	c.1714T>A	c.(1714-1716)Tgc>Agc	p.C572S	TRPM3_ENST00000377106.1_Missense_Mutation_p.C444S|TRPM3_ENST00000396280.5_Missense_Mutation_p.C431S|TRPM3_ENST00000377105.1_Missense_Mutation_p.C431S|TRPM3_ENST00000357533.2_Missense_Mutation_p.C586S|TRPM3_ENST00000360823.2_Missense_Mutation_p.C444S|TRPM3_ENST00000358082.3_Missense_Mutation_p.C444S|TRPM3_ENST00000423814.3_Missense_Mutation_p.C599S|TRPM3_ENST00000396292.4_Missense_Mutation_p.C444S|TRPM3_ENST00000396285.1_Missense_Mutation_p.C419S|TRPM3_ENST00000408909.2_Missense_Mutation_p.C431S|TRPM3_ENST00000377111.2_Missense_Mutation_p.C572S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	597						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTGTAGTTGCAGCGATAAGCC	0.587000													15	28					0	0	1	0	0
IGKV6D-41	28869	broad.mit.edu	37	2	90108550	90108550	+	RNA	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:90108550C>T	ENST00000390271.2	+	0	47																											CGTTGCAATTCCTGCGGCTTC	0.418000													19	62					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71197238	71197238	+	Silent	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr14:71197238C>T	ENST00000554752.2	-	12	3173	c.3174G>A	c.(3172-3174)ggG>ggA	p.G1058G	MAP3K9_ENST00000554146.1_Silent_p.G786G|MAP3K9_ENST00000555993.2_Silent_p.G1072G|MAP3K9_ENST00000553414.1_Silent_p.G791G|MAP3K9_ENST00000381250.4_Silent_p.G1035G			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	1058					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GGGGCAGCGGCCCTGCCTGGA	0.647000													18	41					0	0	1	0	0
RNF217-AS1	7955	broad.mit.edu	37	6	125232287	125232287	+	RNA	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:125232287C>T	ENST00000439075.1	-	0	2458					NR_026876.1																						AACCTTTGCTCCTGCCCAACA	0.348000													3	17					0	0	1	0	0
RBL2	5934	broad.mit.edu	37	16	53485693	53485693	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr16:53485693A>C	ENST00000262133.6	+	5	853	c.716A>C	c.(715-717)aAt>aCt	p.N239T	RBL2_ENST00000544545.1_Missense_Mutation_p.N23T|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	239					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTTTATGGAAATGCACTTCAG	0.368000													50	98					0	0	1	0	0
SH2D4B	387694	broad.mit.edu	37	10	82348476	82348476	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr10:82348476C>A	ENST00000339284.2	+	4	1016	c.586C>A	c.(586-588)Cag>Aag	p.Q196K	SH2D4B_ENST00000313455.4_Missense_Mutation_p.Q147K|SH2D4B_ENST00000470604.2_Missense_Mutation_p.Q195K	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	195	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			GACCCTGAAGCAGGCTCAGCT	0.562000													36	26					5.43694e-19	7.65405e-19	1	1	0
PRRC2B	84726	broad.mit.edu	37	9	134351245	134351245	+	Silent	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr9:134351245C>T	ENST00000357304.4	+	15	3784	c.3729C>T	c.(3727-3729)gaC>gaT	p.D1243D	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1243							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GCCCTTCCGACACATGCGGAT	0.587000											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	24					0	0	1	0	0
SLC8B1	80024	broad.mit.edu	37	12	113759116	113759116	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr12:113759116C>T	ENST00000552014.1	-	4	709	c.194G>A	c.(193-195)tGt>tAt	p.C65Y	SLC24A6_ENST00000202831.3_Missense_Mutation_p.C65Y|SLC24A6_ENST00000553238.1_5'UTR|SLC24A6_ENST00000546737.1_Missense_Mutation_p.C65Y			Q6J4K2	NCKX6_HUMAN		65					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						GATGAAGTCACAGCGGTCAGA	0.602000													60	140					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175092718	175092718	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:175092718C>A	ENST00000239462.4	+	12	2946	c.2833C>A	c.(2833-2835)Cca>Aca	p.P945T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	945	Fibronectin type-III 8.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGGCCTGAGACCAGGCATGGA	0.617000													12	93					1.87028e-06	2.08247e-06	1	1	0
SEC24A	10802	broad.mit.edu	37	5	134007564	134007564	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr5:134007564G>T	ENST00000398844.2	+	4	1093	c.805G>T	c.(805-807)Ggt>Tgt	p.G269C	SEC24A_ENST00000322887.4_Missense_Mutation_p.G269C	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	269					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GATTGAAGGAGGTGGCTTATT	0.313000													15	43					7.93312e-07	8.93451e-07	1	1	0
CACNA2D3	55799	broad.mit.edu	37	3	54604086	54604086	+	Silent	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:54604086C>G	ENST00000474759.1	+	8	891	c.843C>G	c.(841-843)tcC>tcG	p.S281S	CACNA2D3_ENST00000288197.5_Silent_p.S281S|CACNA2D3_ENST00000490478.1_Silent_p.S187S|CACNA2D3_ENST00000415676.2_Silent_p.S281S	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	281	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CAGTCTCATCCATTTTGGATA	0.453000													45	94					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30959800	30959800	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr21:30959800G>T	ENST00000399914.1	-	11	2155	c.1634C>A	c.(1633-1635)cCc>cAc	p.P545H	GRIK1_ENST00000327783.4_Missense_Mutation_p.P560H|GRIK1_ENST00000399913.1_Missense_Mutation_p.P560H|GRIK1_ENST00000389124.2_Missense_Mutation_p.P560H|GRIK1_ENST00000399909.1_Missense_Mutation_p.P545H|GRIK1_ENST00000309434.7_Missense_Mutation_p.P562H|GRIK1_ENST00000535441.1_Missense_Mutation_p.P562H|GRIK1_ENST00000389125.3_Missense_Mutation_p.P545H|GRIK1_ENST00000399907.1_Missense_Mutation_p.P560H			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	560					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GGTACCATTGGGCTTCCGGTA	0.517000													21	42					2.27731e-05	2.47158e-05	1	1	0
NLRP1	22861	broad.mit.edu	37	17	5437274	5437274	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:5437274C>A	ENST00000345221.3	-	9	3549	c.2995G>T	c.(2995-2997)Gat>Tat	p.D999Y	NLRP1_ENST00000269280.4_Missense_Mutation_p.D999Y|NLRP1_ENST00000262467.5_Missense_Mutation_p.D999Y|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Missense_Mutation_p.D969Y|NLRP1_ENST00000572272.1_Missense_Mutation_p.D999Y|NLRP1_ENST00000577119.1_Missense_Mutation_p.D969Y	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	999					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TCTCCCGTATCCAGGCCCTCA	0.522000													135	127					2.46087e-49	4.11342e-49	1	1	0
MUC6	4588	broad.mit.edu	37	11	1020165	1020165	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:1020165T>G	ENST00000421673.2	-	29	3783	c.3733A>C	c.(3733-3735)Acc>Ccc	p.T1245P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1245	Pro-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGGCAGGGGTGTGATTAGAG	0.657000													6	39					0	0	1	0	0
BRS3	680	broad.mit.edu	37	X	135574444	135574444	+	Silent	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chrX:135574444G>T	ENST00000370648.3	+	3	1338	c.1110G>T	c.(1108-1110)acG>acT	p.T370T		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	370					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TGATGGGAACGGTCCCGGGCA	0.527000													65	23					4.09171e-25	6.13756e-25	1	1	0
ADCY5	111	broad.mit.edu	37	3	123008597	123008597	+	Splice_Site	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:123008597C>A	ENST00000462833.1	-	19	4744	c.3532_splice	c.e19+1	p.G1178_splice	ADCY5_ENST00000491190.1_Splice_Site_p.G836_splice|ADCY5_ENST00000309879.5_Splice_Site_p.G828_splice	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1178	Guanylate cyclase 2.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CCCCACTCACCGATCTTCATC	0.587000													49	67					7.90463e-13	9.9825e-13	1	1	0
DDX11	1663	broad.mit.edu	37	12	31240902	31240902	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr12:31240902A>C	ENST00000251758.5	+	7	1108	c.857A>C	c.(856-858)aAg>aCg	p.K286T	DDX11_ENST00000407793.2_Missense_Mutation_p.E223D|DDX11_ENST00000545668.1_Missense_Mutation_p.E223D|DDX11_ENST00000228264.6_Missense_Mutation_p.E197D|DDX11_ENST00000542838.1_Missense_Mutation_p.E223D|DDX11_ENST00000350437.4_Missense_Mutation_p.E223D			Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	0	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					ACCTGGAGGAAGAACACATAA	0.537000										Multiple Myeloma(12;0.14)			12	29					0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147131162	147131162	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:147131162G>A	ENST00000282928.4	+	3	1897	c.1168G>A	c.(1168-1170)Ggc>Agc	p.G390S		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	390	Ser-rich.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CTCCTCGCAGGGCTCGCAGCC	0.617000													47	60					0	0	1	0	0
SSSCA1	10534	broad.mit.edu	37	11	65339032	65339032	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:65339032G>C	ENST00000531405.1	+	3	552	c.316G>C	c.(316-318)Gtg>Ctg	p.V106L	SSSCA1_ENST00000309328.3_Missense_Mutation_p.V143L|SSSCA1_ENST00000527920.1_Intron|SSSCA1_ENST00000526877.1_3'UTR			O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	143					cell division|mitosis		protein binding			kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						TGCTCCTGCTGTGCCTCCAAA	0.642000													24	88					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1992063	1992063	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr12:1992063G>C	ENST00000382722.5	-	13	1817	c.1455C>G	c.(1453-1455)atC>atG	p.I485M	CACNA2D4_ENST00000585708.1_Missense_Mutation_p.I421M|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.I485M|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.I370M|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.I485M|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.I421M	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	485						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CTGTCCAGATGATGTCGTGGT	0.582000													6	16					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356616	42356616	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr14:42356616G>T	ENST00000554171.1	+	5	3220	c.788G>T	c.(787-789)tGt>tTt	p.C263F	LRFN5_ENST00000554120.1_Missense_Mutation_p.C263F|LRFN5_ENST00000298119.4_Missense_Mutation_p.C263F			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	263	LRRCT.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTAGAGACCTGTGCTTCTCCT	0.438000										HNSCC(30;0.082)			79	131					1.15098e-32	1.82194e-32	1	1	0
LRP4	4038	broad.mit.edu	37	11	46898819	46898819	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:46898819C>T	ENST00000378623.1	-	23	3450	c.3208G>A	c.(3208-3210)Gct>Act	p.A1070T		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1070					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ACCACATCAGCAAAATAAGGG	0.522000													50	110					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82789453	82789453	+	Silent	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr5:82789453C>A	ENST00000265077.3	+	4	1099	c.534C>A	c.(532-534)gtC>gtA	p.V178V	VCAN_ENST00000513984.1_Silent_p.V178V|VCAN_ENST00000342785.4_Silent_p.V178V|VCAN_ENST00000512590.2_Silent_p.V130V|VCAN_ENST00000502527.2_Silent_p.V178V|VCAN_ENST00000343200.5_Silent_p.V178V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	178	Link 1.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTGGGGCAGTCATAGCAACTC	0.522000													40	45					8.16277e-20	1.15864e-19	1	1	0
OR5M8	219484	broad.mit.edu	37	11	56257952	56257952	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:56257952C>G	ENST00000327216.2	-	1	919	c.895G>C	c.(895-897)Gca>Cca	p.A299P		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TTGATTAATGCTTCTTTTACA	0.303000													19	30					0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35422925	35422925	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr20:35422925C>A	ENST00000237536.4	-	14	3901	c.3560G>T	c.(3559-3561)cGg>cTg	p.R1187L	SOGA1_ENST00000357779.3_Missense_Mutation_p.R949L|SOGA1_ENST00000456801.2_Missense_Mutation_p.R790L|SOGA1_ENST00000279034.5_Missense_Mutation_p.R949L	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	949								p.R949Q(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CTTCTTGCCCCGGGCATCTCC	0.547000													56	135					7.10663e-31	1.10709e-30	1	1	0
MOS	4342	broad.mit.edu	37	8	57026325	57026325	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr8:57026325A>T	ENST00000311923.1	-	1	216	c.217T>A	c.(217-219)Tcg>Acg	p.S73T		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	73	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			TTGTACACCGAGCCAAACCCT	0.622000													55	70					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14537833	14537833	+	Silent	SNP	G	G	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr18:14537833G>C	ENST00000358970.5	-	3	776	c.777C>G	c.(775-777)ctC>ctG	p.L259L	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	259										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CACCATATAAGAGCAGTGCTT	0.353000													12	70					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101817563	101817563	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr9:101817563G>A	ENST00000375001.3	+	34	3524	c.3101G>A	c.(3100-3102)gGg>gAg	p.G1034E		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1034	Triple-helical region 7 (COL7).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGAGACAAGGGGTTCAAAGGT	0.483000													40	117					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29108490	29108490	+	RNA	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr16:29108490C>G	ENST00000564580.1	+	0	974																											GGTTAACTGGCTGCACATATA	0.373000													29	105					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176984011	176984011	+	Splice_Site	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:176984011C>A	ENST00000367654.2	-	8	1476	c.1462_splice	c.e8-1	p.G488_splice	ASTN1_ENST00000367657.3_Splice_Site_p.G480_splice|ASTN1_ENST00000361833.2_Splice_Site_p.G480_splice|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Splice_Site_p.G480_splice			O14525	ASTN1_HUMAN	astrotactin 1	488	EGF-like 1.				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						GAGGCATTCCCCTTAGAAGCA	0.423000													48	225					3.4345e-17	4.7002e-17	1	1	0
PTPN13	5783	broad.mit.edu	37	4	87655902	87655902	+	Silent	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr4:87655902G>A	ENST00000436978.1	+	14	2505	c.2025G>A	c.(2023-2025)acG>acA	p.T675T	PTPN13_ENST00000427191.2_Silent_p.T675T|PTPN13_ENST00000511467.1_Silent_p.T675T|PTPN13_ENST00000316707.6_Silent_p.T675T|PTPN13_ENST00000411767.2_Silent_p.T675T	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	675	FERM.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ATACTCTGACGTGTCATCAGT	0.403000													11	68					0	0	1	0	0
ALKBH7	84266	broad.mit.edu	37	19	6374527	6374527	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:6374527C>T	ENST00000245812.3	+	3	818	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	ALKBH7_ENST00000599849.1_Missense_Mutation_p.R83W|ALKBH7_ENST00000596657.1_Missense_Mutation_p.R2W	NM_032306.3	NP_115682.1	Q9BT30	ALKB7_HUMAN	alkB, alkylation repair homolog 7 (E. coli)	144						extracellular region|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CAGCGTTATGCGGCTGGTGCA	0.647000													5	62					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325486	57325486	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:57325486C>A	ENST00000326441.9	-	10	4687	c.4324G>T	c.(4324-4326)Gag>Tag	p.E1442*	ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Nonsense_Mutation_p.E1316*|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Nonsense_Mutation_p.E1442*|PEG3_ENST00000598410.1_Nonsense_Mutation_p.E1318*|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1442	4 X 5 AA repeat of P-X-G-E-A.|Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGCTCGGCCTCTCCATTTGGC	0.572000													18	95					4.63292e-17	6.32767e-17	1	1	0
SPESP1	246777	broad.mit.edu	37	15	69238562	69238562	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr15:69238562T>A	ENST00000310673.3	+	2	843	c.689T>A	c.(688-690)aTt>aAt	p.I230N	NOX5_ENST00000260364.5_Intron|NOX5_ENST00000448182.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	230					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						TTGAAAAAAATTTTAGATATT	0.388000													16	80					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197398714	197398714	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:197398714C>A	ENST00000367397.1	+	4	1813	c.955C>A	c.(955-957)Cag>Aag	p.Q319K	CRB1_ENST00000544212.1_Missense_Mutation_p.Q419K|CRB1_ENST00000367400.3_Missense_Mutation_p.Q938K|CRB1_ENST00000367399.2_Missense_Mutation_p.Q826K|CRB1_ENST00000535699.1_Missense_Mutation_p.Q914K|CRB1_ENST00000538660.1_Intron			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	938	EGF-like 8.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TCACGGAGCCCAGTGCCAGCC	0.527000													15	39					1.52009e-12	1.91264e-12	1	1	0
SSUH2	51066	broad.mit.edu	37	3	8661662	8661662	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:8661662G>C	ENST00000317371.4	-	19	2179	c.954C>G	c.(952-954)caC>caG	p.H318Q	SSUH2_ENST00000341795.3_Missense_Mutation_p.H318Q|SSUH2_ENST00000415132.1_3'UTR|SSUH2_ENST00000544814.1_Missense_Mutation_p.H340Q					ssu-2 homolog (C. elegans)																		GGTACCAATAGTGAACTTCTG	0.488000													17	53					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67148051	67148051	+	Splice_Site	SNP	T	T	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:67148051T>C	ENST00000371037.4	+	15	1391	c.1315_splice	c.e15+1	p.S438_splice	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000237247.6_Splice_Site_p.S442_splice|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371036.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	438	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GGACCACCAGTGGTATGTCTT	0.617000													101	190					0	0	1	0	0
DNA2	1763	broad.mit.edu	37	10	70196857	70196857	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr10:70196857A>C	ENST00000399180.2	-	10	1814	c.1815T>G	c.(1813-1815)atT>atG	p.I605M	DNA2_ENST00000399179.2_Missense_Mutation_p.I519M|DNA2_ENST00000358410.3_Missense_Mutation_p.I519M			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	519					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						CTCCACTTACAATAACTCTGT	0.353000													20	167					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136562580	136562580	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:136562580G>T	ENST00000264162.2	-	10	4231	c.4221C>A	c.(4219-4221)gaC>gaA	p.D1407E		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1407	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAGAAAACGTGTCCCAAATGC	0.488000													30	76					5.77227e-19	8.10951e-19	1	1	0
CD164	8763	broad.mit.edu	37	6	109691614	109691614	+	Splice_Site	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:109691614C>G	ENST00000310786.4	-	5	492	c.427_splice	c.e5+1	p.G143_splice	CD164_ENST00000512821.1_Splice_Site_p.E143_splice|CD164_ENST00000324953.5_Intron|CD164_ENST00000504373.1_Splice_Site_p.G109_splice|CD164_ENST00000368961.5_Intron|CD164_ENST00000413644.2_Splice_Site_p.G143_splice|CD164_ENST00000506649.1_5'UTR|CD164_ENST00000275080.7_Splice_Site_p.G130_splice	NM_001142404.1|NM_006016.4	NP_001135876.1|NP_006007.2	Q04900	MUC24_HUMAN	CD164 molecule, sialomucin	143	Thr-rich.				hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding			breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		CCTCAATTACCTGATGTAGTA	0.378000													12	49					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25438424	25438424	+	RNA	SNP	G	G	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr15:25438424G>C	ENST00000424208.1	+	0	1283				SNHG14_ENST00000414175.1_RNA	NR_003305.1																						GAGCACATCCGGGTCCTGCTG	0.552000													77	136					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61622137	61622137	+	Splice_Site	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:61622137C>G	ENST00000398571.2	-	5	680	c.603_splice	c.e5-1	p.D202_splice		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	202					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACTTCTACATCCTGGGAAAAT	0.323000													8	26					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102483431	102483431	+	Silent	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:102483431C>A	ENST00000369138.1	+	14	2791	c.2301C>A	c.(2299-2301)ggC>ggA	p.G767G	GRIK2_ENST00000413795.1_Silent_p.G767G|GRIK2_ENST00000369134.4_Silent_p.G718G|GRIK2_ENST00000318991.6_Silent_p.G767G|GRIK2_ENST00000369137.3_Silent_p.G691G|GRIK2_ENST00000421544.1_Silent_p.G767G	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	767					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	ATGGCGTTGGCACTCCCATGG	0.443000													50	161					8.04919e-23	1.17655e-22	1	1	0
ZNF107	51427	broad.mit.edu	37	7	64168707	64168707	+	Silent	SNP	A	A	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr7:64168707A>T	ENST00000395391.1	+	4	3400	c.2025A>T	c.(2023-2025)ctA>ctT	p.L675L	ZNF107_ENST00000423627.1_Silent_p.L675L|ZNF107_ENST00000344930.3_Silent_p.L675L			Q9UII5	ZN107_HUMAN	zinc finger protein 107	675					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CTTTTAACCTATCCTCAACCC	0.363000													41	21					0	0	1	0	0
KDM2A	22992	broad.mit.edu	37	11	67018061	67018061	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:67018061G>T	ENST00000529006.2	+	17	3006	c.2560G>T	c.(2560-2562)Ggg>Tgg	p.G854W	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000308783.5_Missense_Mutation_p.G312W|KDM2A_ENST00000530342.1_Missense_Mutation_p.G415W	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	854					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						ggaggggctggggggagagga	0.672000													8	20					7.48243e-07	8.45465e-07	1	1	0
GMPPA	29926	broad.mit.edu	37	2	220370418	220370418	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:220370418G>T	ENST00000373917.3	+	9	1065	c.994G>T	c.(994-996)Gcc>Tcc	p.A332S	GMPPA_ENST00000373908.1_Intron|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000358215.3_Intron|GMPPA_ENST00000341142.3_Intron|GMPPA_ENST00000313597.5_Intron			Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	285					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TGCCCCCAGGGCCTCTCTTCT	0.587000													11	36					1.08611e-07	1.24984e-07	1	1	0
MCM10	55388	broad.mit.edu	37	10	13228163	13228163	+	Splice_Site	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr10:13228163G>T	ENST00000378694.1	+	8	1173		c.e8-1		MCM10_ENST00000378714.3_Splice_Site|MCM10_ENST00000484800.2_Splice_Site			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10						cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TTTTCTTACAGGTGTGTTTAT	0.418000													128	131					1.84813e-57	3.13498e-57	1	1	0
KRT33A	3883	broad.mit.edu	37	17	39502726	39502726	+	Silent	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:39502726C>T	ENST00000007735.3	-	6	1115	c.1071G>A	c.(1069-1071)cgG>cgA	p.R357R		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	357	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				CCAGCAGGCTCCGGTACGTGT	0.572000													62	78					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62758769	62758769	+	RNA	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr7:62758769C>G	ENST00000331425.6	-	0	108					NR_003952.1																						TGTCAACAGTCCCTGGAAAAC	0.398000													18	106					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47042584	47042584	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:47042584C>T	ENST00000450053.3	+	28	4578	c.4399C>T	c.(4399-4401)Cgg>Tgg	p.R1467W	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.R1283W	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1467							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GGCTGCCTGGCGGGAGCGTGG	0.617000													4	22					0	0	1	0	0
OSBP	5007	broad.mit.edu	37	11	59369235	59369235	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:59369235T>A	ENST00000263847.1	-	4	1378	c.899A>T	c.(898-900)cAg>cTg	p.Q300L		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	300					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TCGGATACGCTGGTCTCTTTC	0.522000													74	96					0	0	1	0	0
PIF1	80119	broad.mit.edu	37	15	65112092	65112092	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr15:65112092C>A	ENST00000268043.4	-	8	1381	c.1287G>T	c.(1285-1287)caG>caT	p.Q429H	PIF1_ENST00000559239.1_Missense_Mutation_p.Q429H|PIF1_ENST00000333425.6_Missense_Mutation_p.Q429H			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	429	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						CCACATCATCCTGGTGGGTGC	0.617000													24	49					7.87624e-14	1.0114e-13	1	1	0
GPR158	57512	broad.mit.edu	37	10	25887177	25887177	+	Silent	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr10:25887177G>T	ENST00000376351.3	+	11	2981	c.2622G>T	c.(2620-2622)ccG>ccT	p.P874P	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	874						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGTCGGTGCCGTTGGTGTGCA	0.483000													95	115					2.18907e-53	3.68601e-53	1	1	0
NLRP12	91662	broad.mit.edu	37	19	54304528	54304528	+	Silent	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:54304528C>A	ENST00000324134.6	-	7	2877	c.2709G>T	c.(2707-2709)ctG>ctT	p.L903L	NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000535162.1_Silent_p.L903L|NLRP12_ENST00000391773.1_Silent_p.L904L|NLRP12_ENST00000391775.3_Silent_p.L903L|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000345770.5_Silent_p.L904L|NLRP12_ENST00000391772.1_Intron	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	903					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)		CCTCACACAGCAGCAGCACCC	0.622000													21	63					7.45023e-12	9.27229e-12	1	1	0
GRID2	2895	broad.mit.edu	37	4	94436510	94436510	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr4:94436510G>T	ENST00000282020.4	+	13	2399	c.2141G>T	c.(2140-2142)cGa>cTa	p.R714L	GRID2_ENST00000510992.1_Missense_Mutation_p.R619L	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	714					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATGATCAACCGAAGCAATGGA	0.468000													58	32					1.72039e-30	2.66195e-30	1	1	0
RHCG	51458	broad.mit.edu	37	15	90020807	90020807	+	Silent	SNP	G	G	T	rs149378939		TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr15:90020807G>T	ENST00000268122.4	-	7	1121	c.1053C>A	c.(1051-1053)ggC>ggA	p.G351G	RHCG_ENST00000544600.1_Silent_p.G351G	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	351					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					CCACGATGCCGCCTATGATGC	0.582000													12	36					1.61879e-10	1.96139e-10	1	1	0
TNFRSF12A	51330	broad.mit.edu	37	16	3071842	3071842	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr16:3071842C>T	ENST00000575124.1	+	3	591	c.568C>T	c.(568-570)Cca>Tca	p.P190S	TNFRSF12A_ENST00000573001.1_3'UTR|TNFRSF12A_ENST00000341627.5_3'UTR|TNFRSF12A_ENST00000326577.4_3'UTR			Q9NP84	TNR12_HUMAN	tumor necrosis factor receptor superfamily, member 12A	0					angiogenesis|apoptosis	integral to membrane	receptor activity			lung(1)|skin(1)	2						GTGCCCCCTGCCAGCCGGGGC	0.637000													12	42					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769261	31769261	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:31769261C>A	ENST00000240587.4	-	2	1765	c.1438G>T	c.(1438-1440)Gtc>Ttc	p.V480F		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	480					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCGTCAGTGACCGCTTTCTCC	0.488000													177	210					1.30536e-88	2.23636e-88	1	1	0
LRRTM1	347730	broad.mit.edu	37	2	80529422	80529422	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:80529422C>A	ENST00000295057.3	-	2	2179	c.1523G>T	c.(1522-1524)gGc>gTc	p.G508V	CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.G508V|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	508						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GGTACACGAGCCATACTCGTT	0.567000										HNSCC(69;0.2)			13	19					7.93312e-07	8.93451e-07	1	1	0
NPBWR2	2832	broad.mit.edu	37	20	62737572	62737572	+	Missense_Mutation	SNP	C	C	G	rs141331386		TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr20:62737572C>G	ENST00000369768.1	-	1	952	c.613G>C	c.(613-615)Gag>Cag	p.E205Q		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	205						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CAGACCTGCTCGGGCCACGGG	0.627000													21	38					0	0	1	0	0
UMOD	7369	broad.mit.edu	37	16	20344651	20344651	+	Silent	SNP	G	G	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr16:20344651G>C	ENST00000396134.2	-	12	2130	c.2007C>G	c.(2005-2007)acC>acG	p.T669T	UMOD_ENST00000570689.1_Silent_p.T636T|UMOD_ENST00000302509.4_Silent_p.T636T|UMOD_ENST00000424589.1_Silent_p.T669T|UMOD_ENST00000396138.4_Silent_p.T685T|UMOD_ENST00000396142.2_Silent_p.T636T	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	636					cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GAAAAGTCAGGGTCAAGGTGG	0.567000													4	38					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238050819	238050819	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:238050819A>T	ENST00000366570.4	-	5	754	c.596T>A	c.(595-597)gTg>gAg	p.V199E	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	199	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GTTCCGAGACACAGCAATAGA	0.532000													19	28					0	0	1	0	0
PLAGL1	5325	broad.mit.edu	37	6	144263090	144263090	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:144263090G>A	ENST00000360537.2	-	5	2776	c.863C>T	c.(862-864)tCg>tTg	p.S288L	PLAGL1_ENST00000354765.2_Missense_Mutation_p.S288L|PLAGL1_ENST00000367571.1_Missense_Mutation_p.S288L|PLAGL1_ENST00000416623.1_Missense_Mutation_p.S288L|PLAGL1_ENST00000392307.1_Missense_Mutation_p.S236L|PLAGL1_ENST00000429150.1_Missense_Mutation_p.S288L|PLAGL1_ENST00000367572.1_Missense_Mutation_p.S236L|PLAGL1_ENST00000444202.1_Missense_Mutation_p.S288L|PLAGL1_ENST00000392309.1_Missense_Mutation_p.S288L|PLAGL1_ENST00000437412.1_Missense_Mutation_p.S236L			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	288					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		AGGGGATACCGAGGGGTGGAG	0.612000											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	113					0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79169707	79169707	+	Silent	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:79169707C>G	ENST00000269392.4	-	16	2200	c.1953G>C	c.(1951-1953)gtG>gtC	p.V651V	AZI1_ENST00000575907.1_Silent_p.V651V|AZI1_ENST00000374782.3_Silent_p.V648V|AZI1_ENST00000450824.2_Silent_p.V648V	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	651					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCTCGGCCACCACAGCCTCGC	0.637000													12	46					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55144739	55144739	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:55144739C>G	ENST00000396331.1	+	8	1588	c.1231C>G	c.(1231-1233)Ccc>Gcc	p.P411A	LILRB1_ENST00000396317.1_Missense_Mutation_p.P411A|LILRB1_ENST00000462628.1_Intron|LILRB1_ENST00000448689.1_Missense_Mutation_p.P411A|LILRB1_ENST00000396321.2_Missense_Mutation_p.P411A|LILRB1_ENST00000434867.2_Missense_Mutation_p.P411A|LILRB1_ENST00000427581.2_Missense_Mutation_p.P447A|LILRB1_ENST00000396332.4_Missense_Mutation_p.P411A|LILRB1_ENST00000396327.3_Missense_Mutation_p.P411A|LILRB1_ENST00000324602.7_Missense_Mutation_p.P411A|LILRB1_ENST00000418536.2_Missense_Mutation_p.P411A|LILRB1_ENST00000396315.1_Missense_Mutation_p.P411A	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	411					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GCTGACTCACCCCAGTGACCC	0.617000										HNSCC(37;0.09)			39	150					0	0	1	0	0
TRAF7	84231	broad.mit.edu	37	16	2225359	2225359	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr16:2225359G>C	ENST00000326181.6	+	16	1576	c.1444G>C	c.(1444-1446)Gtg>Ctg	p.V482L		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	482					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						TGACAACCCGGTGTGCACGCT	0.622000													12	80					0	0	1	0	0
CRY2	1408	broad.mit.edu	37	11	45891247	45891247	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:45891247G>T	ENST00000443527.2	+	7	1158	c.1136G>T	c.(1135-1137)tGg>tTg	p.W379L	CRY2_ENST00000417225.2_Missense_Mutation_p.W297L	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	358	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						GGCTTCCCTTGGATTGATGCC	0.642000													85	124					4.05997e-52	6.81956e-52	1	1	0
CYB5R4	51167	broad.mit.edu	37	6	84645953	84645953	+	Silent	SNP	A	A	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:84645953A>T	ENST00000369681.4	+	12	1106	c.966A>T	c.(964-966)atA>atT	p.I322I	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	322	FAD-binding FR-type.				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		GTACAGAAATAGTAAAGCCAT	0.294000													13	16					0	0	1	0	0
NTNG1	22854	broad.mit.edu	37	1	107866928	107866928	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:107866928G>C	ENST00000370067.1	+	3	898	c.271G>C	c.(271-273)Gag>Cag	p.E91Q	NTNG1_ENST00000370068.1_Missense_Mutation_p.E91Q|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370070.2_Missense_Mutation_p.E91Q|NTNG1_ENST00000370071.2_Missense_Mutation_p.E91Q|NTNG1_ENST00000370073.2_Missense_Mutation_p.E91Q|NTNG1_ENST00000370074.4_Missense_Mutation_p.E91Q|NTNG1_ENST00000542803.1_Missense_Mutation_p.E91Q|NTNG1_ENST00000370072.3_Missense_Mutation_p.E91Q|NTNG1_ENST00000370065.1_Missense_Mutation_p.E91Q|NTNG1_ENST00000370066.1_Missense_Mutation_p.E91Q|NTNG1_ENST00000370061.3_Missense_Mutation_p.E91Q			Q9Y2I2	NTNG1_HUMAN	netrin G1	91	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GTGCAATAATGAGTGTGATGC	0.478000													98	251					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119739053	119739053	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr9:119739053A>T	ENST00000313400.4	-	8	1703	c.1603T>A	c.(1603-1605)Tgt>Agt	p.C535S	ASTN2_ENST00000373996.3_Missense_Mutation_p.C535S|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.C484S			O75129	ASTN2_HUMAN	astrotactin 2	535	EGF-like 1.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCTTCATGACAGCTGCACTCT	0.473000													43	53					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9046073	9046073	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:9046073T>A	ENST00000397910.4	-	5	35761	c.35558A>T	c.(35557-35559)cAt>cTt	p.H11853L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11855	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						TGTCCCTGGATGGGTGGAAAG	0.488000													72	38					0	0	1	0	0
NTN4	59277	broad.mit.edu	37	12	96104257	96104257	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr12:96104257T>A	ENST00000343702.4	-	5	1590	c.1142A>T	c.(1141-1143)gAc>gTc	p.D381V	NTN4_ENST00000344911.4_Missense_Mutation_p.D344V|NTN4_ENST00000538383.1_Missense_Mutation_p.D344V|NTN4_ENST00000553059.1_Missense_Mutation_p.D381V	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	381	Laminin EGF-like 2.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TCTCCGCAGGTCACGATAGAA	0.488000													14	52					0	0	1	0	0
CASP6	839	broad.mit.edu	37	4	110624529	110624529	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr4:110624529C>G	ENST00000265164.2	-	1	100	c.23G>C	c.(22-24)cGc>cCc	p.R8P	CASP6_ENST00000505486.1_Missense_Mutation_p.R8P|CASP6_ENST00000352981.3_Missense_Mutation_p.R8P	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	8					cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis	cytosol|nucleoplasm	cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		GTGCCCCCTGCGGAGCCCCGA	0.716000													6	11					0	0	1	0	0
KIF5C	3800	broad.mit.edu	37	2	149851028	149851028	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:149851028G>T	ENST00000435030.1	+	17	2367	c.1999G>T	c.(1999-2001)Gag>Tag	p.E667*	KIF5C_ENST00000414838.2_Nonsense_Mutation_p.E572*|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Nonsense_Mutation_p.E435*			O60282	KIF5C_HUMAN	kinesin family member 5C	667					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GCTCAGCGAAGAGCTGGCAAA	0.507000													3	2					0.004672	0.0047977	1	1	0
FGD5	152273	broad.mit.edu	37	3	14861903	14861903	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:14861903C>A	ENST00000285046.5	+	1	1435	c.1325C>A	c.(1324-1326)cCt>cAt	p.P442H	FGD5_ENST00000543601.1_Missense_Mutation_p.P201H	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	442					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CAGGCGGCCCCTGGAGAAGGA	0.642000													7	19					0.0381472	0.0387107	1	1	0
PLD5	200150	broad.mit.edu	37	1	242428691	242428691	+	Silent	SNP	T	T	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:242428691T>A	ENST00000442594.2	-	5	788	c.279A>T	c.(277-279)ctA>ctT	p.L93L	PLD5_ENST00000536534.1_Silent_p.L185L|PLD5_ENST00000427495.1_Silent_p.L123L|PLD5_ENST00000474177.1_5'UTR	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	185						integral to membrane	catalytic activity			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)			CATCACTCACTAGCTTGATTT	0.378000													15	31					0	0	1	0	0
AP3M1	26985	broad.mit.edu	37	10	75886060	75886060	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr10:75886060C>G	ENST00000355264.4	-	7	1168	c.857G>C	c.(856-858)aGt>aCt	p.S286T	AP3M1_ENST00000372745.1_Missense_Mutation_p.S286T	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	286	MHD.				protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					GCCGCAAGAACTGTTCTCCTT	0.363000													24	59					0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247835438	247835438	+	Silent	SNP	A	A	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:247835438A>G	ENST00000359688.2	-	1	927	c.906T>C	c.(904-906)ttT>ttC	p.F302F	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCAGAAATGCAAACACCTTCC	0.423000													40	68					0	0	1	0	0
KRTAP6-2	337967	broad.mit.edu	37	21	31971025	31971025	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr21:31971025C>A	ENST00000334897.3	-	1	194	c.169G>T	c.(169-171)Ggc>Tgc	p.G57C		NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	57						intermediate filament		p.G57S(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						TAGCCAGAGCCGCATCCATAG	0.562000													17	36					1.15088e-07	1.31775e-07	1	1	0
TRH	7200	broad.mit.edu	37	3	129695784	129695784	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:129695784C>A	ENST00000302649.3	+	3	981	c.454C>A	c.(454-456)Cag>Aag	p.Q152K	TRH_ENST00000507066.1_Missense_Mutation_p.Q148K	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	152					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CCCGAAGCGGCAGCACCCAGG	0.587000													33	75					2.09667e-21	3.02607e-21	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25453248	25453248	+	RNA	SNP	T	T	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr15:25453248T>A	ENST00000424208.1	+	0	2384				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-21_ENST00000362963.1_RNA	NR_003305.1																						GATGAGAACCTTATATTTTCT	0.532000													72	268					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47530459	47530459	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr14:47530459G>C	ENST00000426342.1	-	7	1370	c.624C>G	c.(622-624)agC>agG	p.S208R	MDGA2_ENST00000439988.2_Missense_Mutation_p.S437R|MDGA2_ENST00000357362.3_Missense_Mutation_p.S208R|MDGA2_ENST00000399232.2_Missense_Mutation_p.S506R	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	437	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TACCTGTGCTGCTGGATATAT	0.318000													45	112					0	0	1	0	0
GRAP2	9402	broad.mit.edu	37	22	40364053	40364053	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr22:40364053G>T	ENST00000344138.4	+	6	730	c.467G>T	c.(466-468)cGg>cTg	p.R156L	GRAP2_ENST00000540310.1_Missense_Mutation_p.R90L|GRAP2_ENST00000407075.3_Missense_Mutation_p.R156L|GRAP2_ENST00000399090.2_Missense_Mutation_p.R43L|GRAP2_ENST00000544756.1_Missense_Mutation_p.R84L|GRAP2_ENST00000543252.1_Missense_Mutation_p.R116L	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	156					cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CAGGGTCACCGGGGCAACAGC	0.612000													10	7					0.000673444	0.000702058	1	1	0
DCAF12L1	139170	broad.mit.edu	37	X	125686488	125686488	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chrX:125686488C>T	ENST00000371126.1	-	1	346	c.104G>A	c.(103-105)gGg>gAg	p.G35E		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	35										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TAGCAGCGGCCCCTCACCGTC	0.701000													27	16					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54403522	54403522	+	Silent	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:54403522G>T	ENST00000263431.3	+	12	1599	c.1317G>T	c.(1315-1317)ggG>ggT	p.G439G	PRKCG_ENST00000542049.1_Silent_p.G326G|PRKCG_ENST00000540413.1_Silent_p.G439G	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	439	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ACGTCACCGGGGGAGACTTGA	0.557000													48	34					8.72198e-27	1.33156e-26	1	1	0
CD177	57126	broad.mit.edu	37	19	43866414	43866414	+	RNA	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:43866414G>A	ENST00000378009.4	+	0	1417				CD177_ENST00000607517.1_RNA|CTC-490G23.4_ENST00000607109.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				CTCACTTGGGGGGTGGGGCTG	0.622000													13	37					0	0	1	0	0
KRTAP27-1	643812	broad.mit.edu	37	21	31709664	31709664	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr21:31709664C>A	ENST00000382835.2	-	1	348	c.323G>T	c.(322-324)gGg>gTg	p.G108V		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	108						intermediate filament				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						ACAAGCCAGCCCTGCTGAAGA	0.517000													65	115					3.61411e-23	5.29402e-23	1	1	0
HECW2	57520	broad.mit.edu	37	2	197183659	197183659	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:197183659T>A	ENST00000260983.2	-	9	2137	c.1955A>T	c.(1954-1956)cAg>cTg	p.Q652L	HECW2_ENST00000409111.1_Missense_Mutation_p.Q296L	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	652					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGAGGACAGCTGCGTGGTCAC	0.592000													15	50					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141598619	141598619	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:141598619C>T	ENST00000389484.3	-	30	5953	c.4982G>A	c.(4981-4983)cGt>cAt	p.R1661H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1661					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)		GTATAAATTACGTGACACCCA	0.373000										TSP Lung(27;0.18)			49	66					0	0	1	0	0
RNASE9	390443	broad.mit.edu	37	14	21024740	21024740	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr14:21024740G>C	ENST00000557068.1	-	4	2214	c.489C>G	c.(487-489)taC>taG	p.Y163*	RNASE9_ENST00000404716.3_Nonsense_Mutation_p.Y168*|RNASE9_ENST00000338904.3_Nonsense_Mutation_p.Y163*|RNASE9_ENST00000553706.1_Nonsense_Mutation_p.Y168*|RNASE9_ENST00000557209.1_Nonsense_Mutation_p.Y168*|RNASE9_ENST00000553541.1_Nonsense_Mutation_p.Y163*|RNASE9_ENST00000429244.2_Nonsense_Mutation_p.Y163*|RNASE9_ENST00000556208.1_Nonsense_Mutation_p.Y168*|RNASE9_ENST00000555230.1_Nonsense_Mutation_p.Y163*|RNASE9_ENST00000554964.1_Nonsense_Mutation_p.Y163*			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	163						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		TGATAAGGACGTAGCCCTTCC	0.388000													8	41					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25486738	25486738	+	RNA	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr15:25486738C>A	ENST00000453082.2	+	0	2057					NR_003343.1																						TCCATTGGGCCCACTTTTCCT	0.607000													9	18					1.12685e-05	1.23468e-05	1	1	0
ENTHD2	146705	broad.mit.edu	37	17	79202797	79202797	+	Silent	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:79202797C>T	ENST00000374769.2	-	13	1734	c.1257G>A	c.(1255-1257)tcG>tcA	p.S419S	ENTHD2_ENST00000300714.3_Silent_p.S503S|AC027601.1_ENST00000575922.1_RNA					ENTH domain containing 2																		TCCTCTGGGACGATGTTTGGG	0.657000													21	34					0	0	1	0	0
CECR1	51816	broad.mit.edu	37	22	17670858	17670858	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr22:17670858G>A	ENST00000399839.1	-	6	1216	c.946C>T	c.(946-948)Ccc>Tcc	p.P316S	CECR1_ENST00000449907.2_Missense_Mutation_p.P274S|CECR1_ENST00000330232.4_Missense_Mutation_p.P75S|CECR1_ENST00000480276.1_5'UTR|CECR1_ENST00000262607.3_Missense_Mutation_p.P316S|CECR1_ENST00000399837.2_Missense_Mutation_p.P316S			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	316					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				ACCACCGTGGGGAACTTGATT	0.577000													45	16					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34818137	34818137	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr7:34818137C>A	ENST00000360581.1	+	3	472	c.344C>A	c.(343-345)aCg>aAg	p.T115K	NPSR1_ENST00000359791.1_Missense_Mutation_p.T115K|NPSR1_ENST00000381539.3_Missense_Mutation_p.T115K|NPSR1_ENST00000531252.1_Missense_Mutation_p.T104K|NPSR1_ENST00000381553.3_Missense_Mutation_p.T115K|NPSR1_ENST00000381542.1_Intron	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	115						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GGAGACTTCACGGCACCTGAC	0.423000													34	39					1.99505e-19	2.82017e-19	1	1	0
GARNL3	84253	broad.mit.edu	37	9	130119537	130119537	+	Missense_Mutation	SNP	G	G	A	rs149591872		TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr9:130119537G>A	ENST00000373387.4	+	21	2327	c.1975G>A	c.(1975-1977)Gtg>Atg	p.V659M	GARNL3_ENST00000435213.2_Missense_Mutation_p.V637M|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000314904.5_Missense_Mutation_p.V659M	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	659	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GATGACCTTAGTGGATGGGCC	0.517000													61	48					0	0	1	0	0
DAO	1610	broad.mit.edu	37	12	109294179	109294179	+	Splice_Site	SNP	G	G	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr12:109294179G>C	ENST00000228476.3	+	11	1116		c.e11-1		DAO_ENST00000551281.1_Splice_Site	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase						glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						GCCTCTCCTAGGTCATCCACA	0.557000													40	82					0	0	1	0	0
SRSF4	6429	broad.mit.edu	37	1	29486922	29486922	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:29486922C>A	ENST00000373795.4	-	2	449	c.215G>T	c.(214-216)gGc>gTc	p.G72V	SRSF4_ENST00000546138.1_Missense_Mutation_p.G72V|SRSF4_ENST00000466448.1_5'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	72	Gly-rich (hinge region).|RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						TCGCCGTGGGCCGCGGGCATG	0.443000													45	115					1.6237e-14	2.13285e-14	1	1	0
REG1P	5969	broad.mit.edu	37	2	79365216	79365216	+	RNA	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:79365216C>A	ENST00000444841.1	-	0	56																											TAGGAAAACACAGGGAAGAGG	0.463000													6	4					3.59834e-05	3.86863e-05	1	1	0
C22orf42	150297	broad.mit.edu	37	22	32547534	32547534	+	Silent	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr22:32547534G>T	ENST00000382097.3	-	5	477	c.405C>A	c.(403-405)ccC>ccA	p.P135P		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	135										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						CATCTTCAGTGGGACCTAGGA	0.512000													59	37					4.09171e-25	6.13756e-25	1	1	0
PELP1	27043	broad.mit.edu	37	17	4575038	4575038	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:4575038G>A	ENST00000301396.4	-	16	3905	c.3680C>T	c.(3679-3681)cCt>cTt	p.P1227L	PELP1_ENST00000572293.1_Missense_Mutation_p.P1133L|PELP1_ENST00000269230.7_Missense_Mutation_p.P993L|PELP1_ENST00000574876.1_Missense_Mutation_p.P1083L|PELP1_ENST00000436683.2_Missense_Mutation_p.P859L			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	1083					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						TTCTTCTGCAGGTGTCTCTGG	0.597000													16	14					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44877865	44877865	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr15:44877865T>C	ENST00000261866.7	-	29	5106	c.5090A>G	c.(5089-5091)gAg>gGg	p.E1697G	SPG11_ENST00000558253.1_5'UTR|SPG11_ENST00000558319.1_Missense_Mutation_p.E1697G|SPG11_ENST00000427534.2_Missense_Mutation_p.E1697G|SPG11_ENST00000535302.2_Missense_Mutation_p.E1697G	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1697					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CACAGGTAACTCAGCTAATTC	0.408000													37	137					0	0	1	0	0
LMX1B	4010	broad.mit.edu	37	9	129453232	129453232	+	Silent	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr9:129453232G>T	ENST00000355497.5	+	3	451	c.444G>T	c.(442-444)cgG>cgT	p.R148R	LMX1B_ENST00000373474.4_Silent_p.R148R|LMX1B_ENST00000526117.1_Silent_p.R148R|LMX1B_ENST00000561065.1_Silent_p.R125R|LMX1B_ENST00000425646.2_Silent_p.R125R	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	125					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						TGTGTGAACGGCAGCTACGCA	0.637000									Nail-Patella Syndrome				20	21					1.96292e-10	2.37e-10	1	1	0
FAT3	120114	broad.mit.edu	37	11	92599943	92599943	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:92599943G>T	ENST00000298047.6	+	21	11712	c.11695G>T	c.(11695-11697)Ggc>Tgc	p.G3899C	FAT3_ENST00000409404.2_Missense_Mutation_p.G3899C|FAT3_ENST00000533797.1_Missense_Mutation_p.G234C|FAT3_ENST00000525166.1_Missense_Mutation_p.G3749C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3899	Laminin G-like.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTGGACTGCGGCAGCGGCCC	0.582000										TCGA Ovarian(4;0.039)			10	10					3.86212e-05	4.14574e-05	1	1	0
CREBBP	1387	broad.mit.edu	37	16	3843416	3843416	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr16:3843416G>C	ENST00000262367.5	-	4	1996	c.1187C>G	c.(1186-1188)aCg>aGg	p.T396R	CREBBP_ENST00000382070.3_Missense_Mutation_p.T396R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	396	Interaction with SRCAP.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTGACAATGCGTCATGTGATT	0.488000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						75	176					0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125288942	125288942	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr9:125288942A>G	ENST00000304880.2	-	1	630	c.631T>C	c.(631-633)Tgc>Cgc	p.C211R		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GTGACAATGCATAAAAAGGGG	0.532000													7	58					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70156355	70156355	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr4:70156355G>T	ENST00000335568.5	+	5	1138	c.1136G>T	c.(1135-1137)gGc>gTc	p.G379V	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	379					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.G379D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GGAGCCAATGGCATCTATGAG	0.413000													145	98					1.72791e-69	2.9383e-69	1	1	0
MIR516B1	574490	broad.mit.edu	37	19	54240122	54240122	+	RNA	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:54240122G>A	ENST00000385211.1	+	0	24					NR_030212.1																						CCATCTGGAGGTAAGAAGCAC	0.398000													35	161					0	0	1	0	0
ADGRG1	9289	broad.mit.edu	37	16	57684226	57684226	+	Silent	SNP	G	G	C	rs142223451		TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr16:57684226G>C	ENST00000562631.1	+	2	559	c.27G>C	c.(25-27)acG>acC	p.T9T	GPR56_ENST00000564912.1_3'UTR|GPR56_ENST00000456916.1_Silent_p.T9T|GPR56_ENST00000538815.1_Silent_p.T9T|GPR56_ENST00000388813.5_Silent_p.T9T|GPR56_ENST00000540164.2_Silent_p.T9T|GPR56_ENST00000562558.1_Silent_p.T9T|GPR56_ENST00000379694.4_Silent_p.T9T|GPR56_ENST00000379696.3_Silent_p.T9T|GPR56_ENST00000567835.1_Silent_p.T9T|GPR56_ENST00000568908.1_Silent_p.T9T|GPR56_ENST00000568909.1_Silent_p.T9T|GPR56_ENST00000388812.4_Silent_p.T9T|GPR56_ENST00000544297.1_5'UTR			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	9					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						TGCTGCAGACGACACTGTTCC	0.572000													37	27					0	0	1	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43661798	43661798	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr15:43661798G>C	ENST00000396976.2	-	1	448	c.314C>G	c.(313-315)tCt>tGt	p.S105C	ZSCAN29_ENST00000396972.1_Missense_Mutation_p.S105C|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.S104C|TUBGCP4_ENST00000570081.1_Splice_Site|ZSCAN29_ENST00000568898.1_Missense_Mutation_p.S104C	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	105					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-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;8.97e-07)		TCTCACCGAAGATCTAGGTCT	0.468000													35	72					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999650	72999650	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr18:72999650C>T	ENST00000322038.5	+	2	2737	c.2153C>T	c.(2152-2154)cCc>cTc	p.P718L	TSHZ1_ENST00000580243.1_Missense_Mutation_p.P763L	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	763						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GTGTCCAAGCCCGTGAGTCCC	0.607000													7	42					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85518017	85518017	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr12:85518017A>C	ENST00000393217.2	+	17	3788	c.3727A>C	c.(3727-3729)Act>Cct	p.T1243P		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1243										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CAGTGACAGCACTCTGCAAAA	0.478000													33	71					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137727644	137727644	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr5:137727644G>A	ENST00000314358.5	+	8	2523	c.2323G>A	c.(2323-2325)Ggc>Agc	p.G775S	KDM3B_ENST00000394866.1_Missense_Mutation_p.G431S|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	775					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GCACTCAGGCGGCTTTCTGTC	0.537000													91	318					0	0	1	0	0
OR2AE1	81392	broad.mit.edu	37	7	99473753	99473753	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr7:99473753T>C	ENST00000316368.2	-	1	927	c.904A>G	c.(904-906)Aga>Gga	p.R302G		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CTCAGCACTCTTCTCAGAGCC	0.428000													159	73					0	0	1	0	0
IRX3	79191	broad.mit.edu	37	16	54319068	54319068	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr16:54319068C>T	ENST00000329734.3	-	2	1437	c.725G>A	c.(724-726)gGc>gAc	p.G242D		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	242	Asp/Glu-rich (acidic).				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						caggccctcgccccccgtgtc	0.687000													4	7					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215866443	215866443	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:215866443A>G	ENST00000272895.7	-	21	2921	c.2702T>C	c.(2701-2703)tTa>tCa	p.L901S	ABCA12_ENST00000389661.4_Missense_Mutation_p.L583S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	901					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTTGTTCTCTAATTTCAGTCT	0.328000													24	58					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21238243	21238243	+	Splice_Site	SNP	A	A	G	rs141763789		TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:21238243A>G	ENST00000233242.1	-	22	3634	c.3508_splice	c.e22+1	p.Y1169_splice		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1169					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GACACATACCATAATGCCATG	0.493000													31	59					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38875884	38875884	+	Silent	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:38875884C>G	ENST00000359357.3	+	62	9104	c.8850C>G	c.(8848-8850)ctC>ctG	p.L2950L	DNAH8_ENST00000449981.2_Silent_p.L3167L|DNAH8_ENST00000441566.1_Silent_p.L2914L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATGTTGTTCTCTGCTTTTCTC	0.338000													24	30					0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30032585	30032585	+	Silent	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:30032585C>A	ENST00000328224.6	-	2	2874	c.1641G>T	c.(1639-1641)gcG>gcT	p.A547A		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	547						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TTAAGACACCCGCAATGGCAC	0.498000													23	69					0.00332997	0.00342982	1	1	0
PLXND1	23129	broad.mit.edu	37	3	129286351	129286351	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:129286351C>A	ENST00000393239.1	-	22	4248	c.4070G>T	c.(4069-4071)cGc>cTc	p.R1357L	PLXND1_ENST00000324093.4_Missense_Mutation_p.R1357L			Q9Y4D7	PLXD1_HUMAN	plexin D1	1357					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GAAGAAGGTGCGGGTCACGAA	0.607000													4	7					0.150653	0.151314	1	1	0
CTNNA2	1496	broad.mit.edu	37	2	80808891	80808891	+	Silent	SNP	A	A	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:80808891A>C	ENST00000466387.1	+	18	2678	c.1954A>C	c.(1954-1956)Agg>Cgg	p.R652R	AC008067.2_ENST00000596887.1_RNA|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000496558.1_Silent_p.R652R|CTNNA2_ENST00000343114.3_Silent_p.R331R|CTNNA2_ENST00000361291.4_Silent_p.R686R|CTNNA2_ENST00000540488.1_Silent_p.R652R|CTNNA2_ENST00000541047.1_Silent_p.R652R|CTNNA2_ENST00000402739.4_Silent_p.R652R			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	652				SR -> RG (in Ref. 1; AAA58407).	axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGTGCGTAGCAGGACAAGTGT	0.463000													15	48					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67124866	67124866	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:67124866A>T	ENST00000284425.2	-	8	1187	c.1013T>A	c.(1012-1014)tTt>tAt	p.F338Y		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	338					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ACATCCCCAAAAGAGGGTAAG	0.413000													39	128					0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49190530	49190530	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:49190530A>T	ENST00000406846.2	-	10	1549	c.1430T>A	c.(1429-1431)cTg>cAg	p.L477Q	FSHR_ENST00000346173.3_Missense_Mutation_p.L415Q|FSHR_ENST00000304421.4_Missense_Mutation_p.L451Q|FSHR_ENST00000541117.1_Missense_Mutation_p.L213Q	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	477					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CTTGCAGTCCAGCTGCATGGC	0.532000									Gonadal Dysgenesis, 46 XX				12	34					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38431616	38431616	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr7:38431616C>A	ENST00000356264.2	-	19	1826	c.1611G>T	c.(1609-1611)gaG>gaT	p.E537D	AMPH_ENST00000428293.2_Missense_Mutation_p.E495D|AMPH_ENST00000325590.5_Missense_Mutation_p.E495D|AMPH_ENST00000471913.1_5'UTR	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	537					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GAATGACCTTCTCCTGGGGGA	0.567000													41	37					1.6237e-14	2.13285e-14	1	1	0
PHOX2B	8929	broad.mit.edu	37	4	41749523	41749523	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr4:41749523C>T	ENST00000226382.2	-	2	631	c.272G>A	c.(271-273)gGc>gAc	p.G91D		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	91					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CTCGTTGAGGCCGCCGTGGTC	0.582000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				37	41					0	0	1	0	0
SCGB1A1	7356	broad.mit.edu	37	11	62189740	62189740	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:62189740C>A	ENST00000278282.2	+	2	164	c.103C>A	c.(103-105)Ctc>Atc	p.L35I	CTD-2531D15.4_ENST00000528983.1_RNA|SCGB1A1_ENST00000534397.1_5'UTR	NM_003357.4	NP_003348.1	P11684	UTER_HUMAN	secretoglobin, family 1A, member 1 (uteroglobin)	35					embryo implantation|signal transduction	extracellular region	binding|phospholipase A2 inhibitor activity			lung(1)	1						CGAAACCCTCCTCATGGACAC	0.562000													31	155					7.68411e-24	1.13527e-23	1	1	0
SMG6	23293	broad.mit.edu	37	17	2200541	2200541	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:2200541T>G	ENST00000544865.1	-	4	2564	c.2054A>C	c.(2053-2055)aAg>aCg	p.K685T	SMG6_ENST00000263073.5_Missense_Mutation_p.K716T			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	716					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCTTACTGTCTTGCGTAATGG	0.403000													63	58					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124386013	124386013	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:124386013A>T	ENST00000360013.3	+	47	6810	c.6683A>T	c.(6682-6684)cAg>cTg	p.Q2228L	KALRN_ENST00000428018.2_Missense_Mutation_p.Q499L|KALRN_ENST00000459915.1_Missense_Mutation_p.Q320L|KALRN_ENST00000393496.1_Missense_Mutation_p.Q569L|KALRN_ENST00000291478.4_Missense_Mutation_p.Q531L	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2227					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTAGAAACACAGCGAGACTTT	0.537000													31	34					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	23					0	0	1	0	0
STX17	55014	broad.mit.edu	37	9	102691066	102691066	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr9:102691066A>T	ENST00000259400.6	+	3	266	c.130A>T	c.(130-132)Agg>Tgg	p.R44W	RP11-60I3.4_ENST00000524512.1_RNA|STX17_ENST00000525640.1_Missense_Mutation_p.R44W|STX17_ENST00000534052.1_Missense_Mutation_p.R44W	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	44					intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ATAGTATCAAAGGTGCAGAAT	0.358000													35	39					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25928562	25928562	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr15:25928562C>A	ENST00000356865.6	-	17	3474	c.3363G>T	c.(3361-3363)tgG>tgT	p.W1121C		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1121					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AGATTAGATACCACTGGTCAA	0.502000													11	27					1.58986e-06	1.77311e-06	1	1	0
TMTC1	83857	broad.mit.edu	37	12	29671461	29671461	+	Silent	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr12:29671461C>T	ENST00000256062.5	-	13	2117	c.1644G>A	c.(1642-1644)ttG>ttA	p.L548L	TMTC1_ENST00000551659.1_Silent_p.L718L|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000539277.1_Silent_p.L656L|TMTC1_ENST00000552618.1_Silent_p.L680L	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	656						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AGAGTCTTCCCAAGTTCACCA	0.498000													66	218					0	0	1	0	0
DNM1	1759	broad.mit.edu	37	9	131004517	131004517	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr9:131004517C>G	ENST00000341179.7	+	15	1656	c.1564C>G	c.(1564-1566)Cgc>Ggc	p.R522G	DNM1_ENST00000393594.3_Missense_Mutation_p.R522G|DNM1_ENST00000372923.3_Missense_Mutation_p.R522G|DNM1_ENST00000486160.1_Missense_Mutation_p.R522G|DNM1_ENST00000475805.1_Missense_Mutation_p.R522G|DNM1_ENST00000493925.1_3'UTR	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	522	PH.				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CCAGGTCATCCGCAAGGGCTG	0.567000													10	31					0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107002582	107002582	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr12:107002582G>T	ENST00000392842.1	+	2	465	c.51G>T	c.(49-51)tgG>tgT	p.W17C	RFX4_ENST00000357881.4_Missense_Mutation_p.W26C|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	17					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						tAGAGAGCTGGATTGAAAGAT	0.338000													17	21					1.15088e-07	1.31775e-07	1	1	0
PPARG	5468	broad.mit.edu	37	3	12434233	12434233	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:12434233G>C	ENST00000397026.2	+	6	918	c.535G>C	c.(535-537)Gtg>Ctg	p.V179L	PPARG_ENST00000397000.1_Missense_Mutation_p.V173L|PPARG_ENST00000397010.2_Missense_Mutation_p.V173L|PPARG_ENST00000397012.2_Missense_Mutation_p.V173L|PPARG_ENST00000309576.6_Missense_Mutation_p.V173L|PPARG_ENST00000287820.6_Missense_Mutation_p.V201L|PPARG_ENST00000539812.1_Missense_Mutation_p.V171L|PPARG_ENST00000397015.2_Missense_Mutation_p.V173L			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	201					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	ATGCCTTGCAGTGGGGATGTC	0.378000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						16	63					0	0	1	0	0
RSPO2	340419	broad.mit.edu	37	8	108913337	108913337	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr8:108913337C>A	ENST00000276659.5	-	6	1318	c.698G>T	c.(697-699)aGc>aTc	p.S233I	RSPO2_ENST00000517939.1_Missense_Mutation_p.S166I|RSPO2_ENST00000517781.1_Missense_Mutation_p.S169I|RSPO2_ENST00000378439.2_Missense_Mutation_p.S169I	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	233					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TAGGAAGACGCTGTGTTGCTC	0.433000													52	100					1.80625e-27	2.76369e-27	1	1	0
DEPDC1	55635	broad.mit.edu	37	1	68948023	68948023	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:68948023T>C	ENST00000456315.2	-	8	1582	c.1468A>G	c.(1468-1470)Act>Gct	p.T490A	DEPDC1_ENST00000370966.5_Intron|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	490					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TCTTGAACAGTCAAAGTAGAG	0.378000													27	37					0	0	1	0	0
AQR	9716	broad.mit.edu	37	15	35162952	35162952	+	Splice_Site	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr15:35162952C>A	ENST00000156471.5	-	31	3994		c.e31+1			NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor							catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TATAAAAGTACCTTGTTTGGT	0.318000													15	29					0.000422831	0.000444847	1	1	0
MAP3K3	4215	broad.mit.edu	37	17	61766975	61766975	+	Silent	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:61766975C>T	ENST00000361357.3	+	12	1354	c.1036C>T	c.(1036-1038)Ctg>Ttg	p.L346L	MAP3K3_ENST00000577784.1_3'UTR|MAP3K3_ENST00000579585.1_Silent_p.L346L|MAP3K3_ENST00000584573.1_Silent_p.L342L|MAP3K3_ENST00000361733.3_Silent_p.L315L|MAP3K3_ENST00000577395.1_Silent_p.L311L	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	315					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CAGCCGCTCCCTGAGCACAAA	0.607000													9	13					0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36595046	36595046	+	Silent	SNP	A	A	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:36595046A>T	ENST00000299440.5	+	2	304	c.192A>T	c.(190-192)gcA>gcT	p.A64A		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	64	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AATCTCCAGCAGTCCTGGACA	0.468000									Familial Hemophagocytic Lymphohistiocytosis				50	128					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70852685	70852685	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:70852685G>T	ENST00000322773.4	+	23	1701	c.1599G>T	c.(1597-1599)atG>atT	p.M533I	COL19A1_ENST00000393344.1_Missense_Mutation_p.M155I	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	533	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CAGGCTCCATGGGACCCAGAG	0.358000													40	74					1.38658e-30	2.15029e-30	1	1	0
SORCS3	22986	broad.mit.edu	37	10	106924078	106924078	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr10:106924078C>A	ENST00000369701.3	+	12	1977	c.1750C>A	c.(1750-1752)Ctc>Atc	p.L584I		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	584						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)		TGGCCCGGAGCTCTCATATAC	0.478000													40	20					2.77807e-22	4.03495e-22	1	1	0
PTENP1	11191	broad.mit.edu	37	9	33675702	33675702	+	RNA	SNP	T	T	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr9:33675702T>A	ENST00000532280.1	-	0	1795					NR_023917.1																						AAGTAAGTACTAGATACTCCT	0.338000													51	119					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063686	9063686	+	Silent	SNP	A	A	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:9063686A>G	ENST00000397910.4	-	3	23963	c.23760T>C	c.(23758-23760)agT>agC	p.S7920S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7922	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						TGTCCAAAGTACTGGTGCCTT	0.468000													107	57					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204978689	204978689	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:204978689C>A	ENST00000367172.4	+	30	3943	c.3615C>A	c.(3613-3615)taC>taA	p.Y1205*	NFASC_ENST00000338515.6_Nonsense_Mutation_p.Y1115*|NFASC_ENST00000367171.4_Nonsense_Mutation_p.Y1190*|NFASC_ENST00000513543.1_Nonsense_Mutation_p.Y1027*|NFASC_ENST00000338586.6_Nonsense_Mutation_p.Y1082*|NFASC_ENST00000367169.4_Nonsense_Mutation_p.Y929*|NFASC_ENST00000404907.1_Nonsense_Mutation_p.Y1032*|NFASC_ENST00000339876.6_Nonsense_Mutation_p.Y1098*|NFASC_ENST00000401399.1_Nonsense_Mutation_p.Y1098*|NFASC_ENST00000404076.1_Nonsense_Mutation_p.Y1015*|NFASC_ENST00000360049.4_Nonsense_Mutation_p.Y1027*|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367170.4_Nonsense_Mutation_p.Y1126*|NFASC_ENST00000539706.1_Nonsense_Mutation_p.Y1032*			O94856	NFASC_HUMAN	neurofascin	1205					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CGCCAGCTTACACCAACAACC	0.562000													17	67					4.35082e-09	5.11817e-09	1	1	0
NPAP1	23742	broad.mit.edu	37	15	24923094	24923094	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr15:24923094C>A	ENST00000329468.2	+	1	2554	c.2080C>A	c.(2080-2082)Ccc>Acc	p.P694T		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		ATCCAAACCTCCCATTGAAAC	0.507000													52	136					1.11015e-26	1.69107e-26	1	1	0
CCDC129	223075	broad.mit.edu	37	7	31617511	31617511	+	Silent	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr7:31617511G>T	ENST00000319386.3	+	8	1626	c.633G>T	c.(631-633)gtG>gtT	p.V211V	CCDC129_ENST00000407970.3_Silent_p.V211V|CCDC129_ENST00000451887.2_Silent_p.V237V|CCDC129_ENST00000409210.1_Silent_p.V119V			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	211										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TGGACCATGTGACCAATGCCT	0.468000													4	46					0.014758	0.0150426	1	1	0
MEIS1	4211	broad.mit.edu	37	2	66794614	66794614	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:66794614A>T	ENST00000488550.1	+	10	1294	c.995A>T	c.(994-996)cAg>cTg	p.Q332L	MEIS1_ENST00000560281.2_Missense_Mutation_p.Q332L|MEIS1_ENST00000409517.1_3'UTR|MEIS1_ENST00000495021.2_Missense_Mutation_p.Q267L|MEIS1_ENST00000444274.2_3'UTR|MEIS1_ENST00000398506.2_Missense_Mutation_p.Q330L|MEIS1_ENST00000272369.9_Missense_Mutation_p.Q332L|MEIS1_ENST00000407092.2_Missense_Mutation_p.Q332L			O00470	MEIS1_HUMAN	Meis homeobox 1	332							sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						AGAATAGTGCAGCCCATGATA	0.458000													9	14					0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33470045	33470045	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr9:33470045C>T	ENST00000379471.2	-	4	610	c.523G>A	c.(523-525)Gac>Aac	p.D175N	NOL6_ENST00000455041.2_Intron|NOL6_ENST00000464829.1_5'UTR			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	175					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ACATTGATGTCTGGTCGGATG	0.582000													30	32					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497732	1497732	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr8:1497732G>T	ENST00000421627.2	+	2	1007	c.873G>T	c.(871-873)tgG>tgT	p.W291C		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	370					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCAGCTCCTGGTCTACGCTGA	0.647000													18	20					8.34094e-07	9.36311e-07	1	1	0
CUX2	23316	broad.mit.edu	37	12	111748207	111748207	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr12:111748207G>T	ENST00000261726.6	+	15	1775	c.1621G>T	c.(1621-1623)Ggc>Tgc	p.G541C		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	541						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGGTGGTGGGGGCGGAGCGGC	0.721000													10	15					4.7546e-09	5.56459e-09	1	1	0
PTGS2	5743	broad.mit.edu	37	1	186645312	186645312	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:186645312C>G	ENST00000367468.5	-	8	1111	c.975G>C	c.(973-975)gaG>gaC	p.E325D	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	325					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	TCTTAATAGTCTCTCCTATTT	0.313000													7	50					0	0	1	0	0
SPACA1	81833	broad.mit.edu	37	6	88773815	88773815	+	Splice_Site	SNP	A	A	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:88773815A>G	ENST00000237201.1	+	6	727		c.e6-1		SPACA1_ENST00000462690.1_Intron	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1							integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TGTTTTCTCTAGAATTGCAGA	0.323000													53	77					0	0	1	0	0
NMBR	4829	broad.mit.edu	37	6	142396983	142396983	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:142396983G>T	ENST00000258042.1	-	3	1115	c.975C>A	c.(973-975)taC>taA	p.Y325*	NMBR_ENST00000480652.1_5'UTR	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	325					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CACTGAGTAGGTAAAGAGCAA	0.463000													33	103					3.11337e-16	4.1939e-16	1	1	0
SYT4	6860	broad.mit.edu	37	18	40850323	40850323	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr18:40850323C>T	ENST00000255224.3	-	4	1629	c.1261G>A	c.(1261-1263)Gtg>Atg	p.V421M	SYT4_ENST00000590752.1_Missense_Mutation_p.V403M|SYT4_ENST00000586678.1_5'UTR	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	421						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TCACAGAGCACGTGCCACTTG	0.463000													121	175					0	0	1	0	0
PIWIL4	143689	broad.mit.edu	37	11	94310554	94310554	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:94310554A>G	ENST00000299001.6	+	4	620	c.409A>G	c.(409-411)Aga>Gga	p.R137G	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	137					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTTAGCATCTAGAAGGCTGAG	0.383000													23	52					0	0	1	0	0
ZNF880	400713	broad.mit.edu	37	19	52887983	52887983	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:52887983G>T	ENST00000422689.2	+	4	1165	c.1150G>T	c.(1150-1152)Gaa>Taa	p.E384*		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	384					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TGAATGTAAAGAATGTGGCAA	0.383000													15	51					1.5739e-10	1.91375e-10	1	1	0
COQ10B	80219	broad.mit.edu	37	2	198327293	198327293	+	Silent	SNP	A	A	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:198327293A>G	ENST00000263960.2	+	3	423	c.285A>G	c.(283-285)gtA>gtG	p.V95V	COQ10B_ENST00000409398.1_Silent_p.V45V|COQ10B_ENST00000409010.1_Silent_p.V67V|COQ10B_ENST00000545340.1_Silent_p.V52V	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B (S. cerevisiae)	95						mitochondrial inner membrane				endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATGATGTAGTATCGGGAGTGG	0.284000													20	66					0	0	1	0	0
C20orf194	25943	broad.mit.edu	37	20	3236720	3236720	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr20:3236720G>T	ENST00000252032.9	-	34	3260	c.3193C>A	c.(3193-3195)Ctt>Att	p.L1065I	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	1065										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						ATGAACACAAGGTAGCACTCC	0.562000													51	22					7.34454e-26	1.10895e-25	1	1	0
CYP2R1	120227	broad.mit.edu	37	11	14901683	14901683	+	Splice_Site	SNP	T	T	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:14901683T>A	ENST00000532378.1	-	4	1154	c.301_splice	c.e4+1	p.Q100_splice	CYP2R1_ENST00000334636.5_Splice_Site_p.Q333_splice|CYP2R1_ENST00000526489.1_5'UTR			Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	333					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	AATCCTCACCTTGAATATTAG	0.403000													32	42					0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109495743	109495743	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr12:109495743G>T	ENST00000257548.5	+	3	299	c.206G>T	c.(205-207)gGc>gTc	p.G69V	USP30_ENST00000392784.2_Missense_Mutation_p.G38V	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	69					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CTTGTGCCTGGCCTTGTTAAT	0.498000													88	168					1.01459e-35	1.63621e-35	1	1	0
LILRB2	10288	broad.mit.edu	37	19	54780755	54780755	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:54780755G>C	ENST00000391748.1	-	10	1513	c.1386C>G	c.(1384-1386)atC>atG	p.I462M	LILRB2_ENST00000314446.5_Missense_Mutation_p.I462M|LILRB2_ENST00000391749.4_Missense_Mutation_p.I463M|LILRB2_ENST00000391746.1_Missense_Mutation_p.I463M|LILRB2_ENST00000434421.1_Missense_Mutation_p.I347M	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	463					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCAAGATGCCGATCACAACCC	0.572000													61	53					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32136519	32136519	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr12:32136519A>T	ENST00000312561.4	+	4	3044	c.2630A>T	c.(2629-2631)cAg>cTg	p.Q877L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		CAAATCTCACAGGAGTCAAGG	0.368000													31	56					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60702146	60702146	+	Silent	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:60702146G>A	ENST00000005286.4	+	9	1902	c.1749G>A	c.(1747-1749)gcG>gcA	p.A583A	TMEM132A_ENST00000453848.2_Silent_p.A582A	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	582						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						ACCTCGTGGCGCCACACGCCC	0.716000													3	17					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87966692	87966692	+	Silent	SNP	T	T	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:87966692T>C	ENST00000369577.3	+	8	3388	c.3345T>C	c.(3343-3345)atT>atC	p.I1115I	ZNF292_ENST00000339907.4_Silent_p.I1110I	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CACAGAGTATTGGGAAACACA	0.413000													12	53					0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59211254	59211254	+	Missense_Mutation	SNP	G	G	T	rs140236654		TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:59211254G>T	ENST00000302030.2	+	1	638	c.613G>T	c.(613-615)Gtg>Ttg	p.V205L		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GAATTTCCTCGTGGTGGTCAC	0.532000													118	165					1.19107e-50	1.99577e-50	1	1	0
BSN	8927	broad.mit.edu	37	3	49690204	49690204	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:49690204G>T	ENST00000296452.4	+	5	3329	c.3215G>T	c.(3214-3216)cGc>cTc	p.R1072L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1072					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCACGGCCCGCAAGACCCGG	0.652000													14	32					3.27435e-08	3.787e-08	1	1	0
TNFRSF4	7293	broad.mit.edu	37	1	1147362	1147362	+	Silent	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:1147362G>A	ENST00000379236.3	-	5	598	c.594C>T	c.(592-594)acC>acT	p.T198T		NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	198					immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GTCCCTGTGAGGTTCTGGGCC	0.731000													4	2					0	0	1	0	0
GGA3	23163	broad.mit.edu	37	17	73240738	73240738	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:73240738G>A	ENST00000245541.6	-	4	478	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	GGA3_ENST00000578348.1_Intron|GGA3_ENST00000579743.1_5'UTR|GGA3_ENST00000582486.1_Missense_Mutation_p.R16C|GGA3_ENST00000538886.1_Intron|GGA3_ENST00000351904.7_Intron|GGA3_ENST00000537686.1_Missense_Mutation_p.R88C|GGA3_ENST00000582717.1_Missense_Mutation_p.R16C	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	88	Binds to ARF1 (in long isoform).|VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			TTCAAAAAGCGGAACTTCCCC	0.507000													13	308					0	0	1	0	0
CELF4	56853	broad.mit.edu	37	18	34853036	34853036	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr18:34853036G>A	ENST00000420428.2	-	7	1287	c.892C>T	c.(892-894)Cag>Tag	p.Q298*	CELF4_ENST00000603232.1_Nonsense_Mutation_p.Q297*|CELF4_ENST00000361795.5_Nonsense_Mutation_p.Q296*|CELF4_ENST00000334919.5_Nonsense_Mutation_p.Q288*|CELF4_ENST00000591287.1_Nonsense_Mutation_p.Q297*|CELF4_ENST00000601019.1_Nonsense_Mutation_p.Q296*|CELF4_ENST00000588597.1_Nonsense_Mutation_p.Q287*|CELF4_ENST00000412753.1_Nonsense_Mutation_p.Q297*|CELF4_ENST00000591282.1_Nonsense_Mutation_p.Q298*	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	298	Ala-rich.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GCCGCCATCTGCTGCATCTGG	0.667000													11	50					0	0	1	0	0
RAVER2	55225	broad.mit.edu	37	1	65243329	65243329	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:65243329G>A	ENST00000294428.3	+	3	418	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	RAVER2_ENST00000371072.4_Missense_Mutation_p.E114K			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	114	RRM 1.					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						ATTGAATGGGGAACAAGCCCA	0.333000													36	75					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287565	16287565	+	Silent	SNP	G	G	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr22:16287565G>C	ENST00000343518.6	-	1	372	c.321C>G	c.(319-321)ccC>ccG	p.P107P		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	107										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CCCTGCAGCAGGGGAAGCAGT	0.592000													138	839					0	0	1	0	0
GLUD2	2747	broad.mit.edu	37	X	120181615	120181615	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chrX:120181615C>A	ENST00000328078.1	+	1	154	c.77C>A	c.(76-78)tCg>tAg	p.S26*		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	26					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	GCCAACCACTCGGCCGCGTTG	0.781000													13	3					0.00010058	0.000107129	1	1	0
CBL	867	broad.mit.edu	37	11	119169209	119169209	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:119169209C>A	ENST00000264033.4	+	15	2769	c.2393C>A	c.(2392-2394)tCc>tAc	p.S798Y		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	798	Asp/Glu-rich (acidic).|Interaction with CD2AP.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		AATGCCAGCTCCTCCTTTGGC	0.512000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				34	57					4.14481e-20	5.90764e-20	1	1	0
TSIX	9383	broad.mit.edu	37	X	73045871	73045871	+	RNA	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chrX:73045871G>A	ENST00000604411.1	+	0	33832				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						CTGTCCCCTTGGGACCTCGCT	0.498000													98	38					0	0	1	0	0
SSUH2	51066	broad.mit.edu	37	3	8661639	8661639	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:8661639T>C	ENST00000317371.4	-	19	2202	c.977A>G	c.(976-978)tAt>tGt	p.Y326C	SSUH2_ENST00000341795.3_Missense_Mutation_p.Y326C|SSUH2_ENST00000415132.1_3'UTR|SSUH2_ENST00000544814.1_Missense_Mutation_p.Y348C					ssu-2 homolog (C. elegans)																		GTAGTAGACATAAGTCTTTCC	0.488000													14	61					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104987670	104987670	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr8:104987670C>A	ENST00000507740.1	+	13	2475	c.2239C>A	c.(2239-2241)Cct>Act	p.P747T	RIMS2_ENST00000406091.3_Missense_Mutation_p.P955T|RIMS2_ENST00000436393.2_Missense_Mutation_p.P733T|RIMS2_ENST00000262231.10_Missense_Mutation_p.P794T	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1017	PDZ.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATCAGGGTCTCCTCATCGAGT	0.423000										HNSCC(12;0.0054)			25	62					2.44723e-14	3.20238e-14	1	1	0
PIF1	80119	broad.mit.edu	37	15	65112091	65112091	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr15:65112091C>A	ENST00000268043.4	-	8	1382	c.1288G>T	c.(1288-1290)Gat>Tat	p.D430Y	PIF1_ENST00000559239.1_Missense_Mutation_p.D430Y|PIF1_ENST00000333425.6_Missense_Mutation_p.D430Y			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	430	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						GCCACATCATCCTGGTGGGTG	0.617000													23	49					3.5997e-14	4.66603e-14	1	1	0
CSNK1G3	1456	broad.mit.edu	37	5	122909156	122909156	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr5:122909156G>T	ENST00000395412.1	+	5	1078	c.359G>T	c.(358-360)gGa>gTa	p.G120V	CSNK1G3_ENST00000395411.1_Missense_Mutation_p.G120V|CSNK1G3_ENST00000361991.2_Missense_Mutation_p.G120V|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.G120V|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.G120V|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.G120V|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.G45V|CSNK1G3_ENST00000511130.2_Missense_Mutation_p.G7V|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.G120V	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	120	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		GAACTGCTGGGACCTAGTTTG	0.363000													74	56					4.98926e-31	7.79005e-31	1	1	0
RNF216	54476	broad.mit.edu	37	7	5792597	5792597	+	Silent	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr7:5792597G>A	ENST00000425013.2	-	3	305	c.81C>T	c.(79-81)ctC>ctT	p.L27L	RNF216_ENST00000389902.3_Silent_p.L27L	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	27					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GCCCATCTCGGAGATTGATCC	0.498000													14	61					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322816	55322816	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:55322816A>T	ENST00000314644.2	+	1	1034	c.1034A>T	c.(1033-1035)aAg>aTg	p.K345M		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTCAGGAATAAGGAAGTAAAA	0.348000										HNSCC(20;0.049)			56	56					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25464717	25464717	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr10:25464717A>T	ENST00000376351.3	+	1	727	c.368A>T	c.(367-369)cAc>cTc	p.H123L	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	123						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CCCTCCTTGCACCGGGCGCTG	0.652000													22	107					0	0	1	0	0
LPPR3	79948	broad.mit.edu	37	19	814917	814917	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:814917C>T	ENST00000359894.2	-	5	631	c.568G>A	c.(568-570)Ggc>Agc	p.G190S	LPPR3_ENST00000520876.3_Missense_Mutation_p.G190S	NM_024888.2	NP_079164.1	Q6T4P5	LPPR3_HUMAN		190						integral to membrane	phosphatidate phosphatase activity										ATGTCGTGGCCGGAGCAGATG	0.617000													10	48					0	0	1	0	0
RPF2	84154	broad.mit.edu	37	6	111346773	111346773	+	Silent	SNP	T	T	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:111346773T>A	ENST00000441448.2	+	10	1001	c.909T>A	c.(907-909)atT>atA	p.I303I		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	303						nucleolus	protein binding	p.I303I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						CAAAAAGAATTAAAAAAAATT	0.368000													7	36					0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30640597	30640597	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:30640597C>A	ENST00000376442.3	-	1	217	c.22G>T	c.(22-24)Gag>Tag	p.E8*		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	8					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						ACCCAGCGCTCCAGACCCGCC	0.706000													11	30					1.61879e-10	1.96139e-10	1	1	0
OR2G2	81470	broad.mit.edu	37	1	247752191	247752191	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:247752191T>A	ENST00000320065.1	+	1	530	c.530T>A	c.(529-531)gTg>gAg	p.V177E	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CATCGCCAAGTGGATCATTTC	0.547000													61	84					0	0	1	0	0
XCL1	6375	broad.mit.edu	37	1	168550304	168550304	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:168550304G>A	ENST00000367818.3	+	3	356	c.191G>A	c.(190-192)cGt>cAt	p.R64H		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	64					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					ATTACCAAACGTGGCCTAAAA	0.473000													25	33					0	0	1	0	0
GUCA1A	2978	broad.mit.edu	37	6	42141446	42141446	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:42141446G>A	ENST00000394237.1	+	3	1071	c.95G>A	c.(94-96)gGc>gAc	p.G32D	GUCA1A_ENST00000372958.1_Missense_Mutation_p.G32D|GUCA1A_ENST00000541991.1_Missense_Mutation_p.G32D|GUCA1A_ENST00000053469.4_Missense_Mutation_p.G32D			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	32	EF-hand 1.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			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)			TGCCCCTCTGGCCAACTCACC	0.552000													51	132					0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56128130	56128130	+	Silent	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:56128130G>T	ENST00000303039.3	+	1	440	c.408G>T	c.(406-408)gtG>gtT	p.V136V		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TGGTGGTGGTGTCTCGGCGGC	0.468000													33	117					6.29468e-14	8.11341e-14	1	1	0
DND1	373863	broad.mit.edu	37	5	140051034	140051034	+	Silent	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr5:140051034G>A	ENST00000542735.1	-	4	949	c.906C>T	c.(904-906)agC>agT	p.S302S	WDR55_ENST00000520764.1_3'UTR|WDR55_ENST00000358337.5_3'UTR	NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	302					multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding			central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATGAGGCCGCTGAAGGGCA	0.612000													4	14					0	0	1	0	0
C2orf44	80304	broad.mit.edu	37	2	24261487	24261487	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:24261487T>C	ENST00000295148.4	-	2	935	c.878A>G	c.(877-879)cAt>cGt	p.H293R	C2orf44_ENST00000406895.3_Missense_Mutation_p.H293R	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	293							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCAGACTTATGTTGATTGAA	0.358000			T	ALK	NSCLC								36	58					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103148966	103148966	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:103148966G>T	ENST00000295269.4	+	12	2673	c.2216G>T	c.(2215-2217)gGa>gTa	p.G739V		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	739					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TACTTGGGTGGAGTAAGGAGG	0.493000													22	42					8.04996e-18	1.11498e-17	1	1	0
IL17RB	55540	broad.mit.edu	37	3	53880624	53880624	+	Silent	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:53880624C>T	ENST00000288167.3	+	1	18	c.9C>T	c.(7-9)ctC>ctT	p.L3L		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	3					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		CGATGTCGCTCGTGCTGCTAA	0.731000													6	5					0	0	1	0	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020656	33020656	+	RNA	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr16:33020656C>A	ENST00000565407.2	+	0	64				RP11-19N8.2_ENST00000567619.1_RNA																							GTGTGAGGTGCAGCTGGTGGA	0.542000													58	153					4.00405e-42	6.54948e-42	1	1	0
HUWE1	10075	broad.mit.edu	37	X	53571684	53571684	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chrX:53571684C>G	ENST00000342160.3	-	71	11545	c.11088G>C	c.(11086-11088)caG>caC	p.Q3696H	HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Missense_Mutation_p.Q3696H			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3696					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AAGGTCGCTTCTGAGATGCCA	0.478000													72	38					0	0	1	0	0
TAAR6	319100	broad.mit.edu	37	6	132891469	132891469	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:132891469C>A	ENST00000275198.1	+	1	9	c.9C>A	c.(7-9)agC>agA	p.S3R		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	3						plasma membrane	G-protein coupled receptor activity	p.S3R(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TTATGAGCAGCAATTCATCCC	0.468000													18	60					1.78486e-19	2.52825e-19	1	1	0
LPPR4	9890	broad.mit.edu	37	1	99771612	99771612	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:99771612G>T	ENST00000370185.3	+	7	1835	c.1338G>T	c.(1336-1338)caG>caT	p.Q446H	LPPR4_ENST00000457765.1_Missense_Mutation_p.Q388H|LPPR4_ENST00000370184.1_Missense_Mutation_p.Q288H	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		446							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GATCAAAGCAGCTCCTCACCC	0.488000													34	84					2.47316e-13	3.15224e-13	1	1	0
KYNU	8942	broad.mit.edu	37	2	143790832	143790832	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:143790832G>A	ENST00000264170.4	+	12	1241	c.983G>A	c.(982-984)gGa>gAa	p.G328E	KYNU_ENST00000409512.1_Missense_Mutation_p.G328E	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	328					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	GGGGTCTGTGGATTCCGAATT	0.383000													188	274					0	0	1	0	0
MIR520H	574493	broad.mit.edu	37	19	54245850	54245850	+	RNA	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:54245850G>T	ENST00000385126.1	+	0	85					NR_030215.1																						GTTACTGTTTGGGAAAAGCAG	0.403000													21	92					3.51602e-12	4.39982e-12	1	1	0
SDHA	6389	broad.mit.edu	37	5	226088	226088	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr5:226088G>A	ENST00000264932.6	+	5	662	c.547G>A	c.(547-549)Ggc>Agc	p.G183S	SDHA_ENST00000504309.1_Missense_Mutation_p.G183S|SDHA_ENST00000510361.1_Missense_Mutation_p.G135S	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	183					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GTTTGGAAAGGGCGGGCAGGC	0.532000									Familial Paragangliomas				51	186					0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65274863	65274863	+	Silent	SNP	T	T	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr4:65274863T>G	ENST00000381210.3	-	1	317	c.207A>C	c.(205-207)acA>acC	p.T69T	TECRL_ENST00000507440.1_Silent_p.T69T	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	69					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TCTGTTTCCTTGTTTGAGCAT	0.343000													5	28					0	0	1	0	0
NEXN	91624	broad.mit.edu	37	1	78392497	78392497	+	Silent	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:78392497C>A	ENST00000330010.8	+	7	889	c.592C>A	c.(592-594)Cga>Aga	p.R198R	NEXN_ENST00000457030.1_Silent_p.R248R|NEXN_ENST00000334785.7_Silent_p.R262R	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	262	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		ACAAGAAAACCGAAAGAAGCA	0.368000													26	76					4.26978e-12	5.33334e-12	1	1	0
COL9A2	1298	broad.mit.edu	37	1	40775791	40775791	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:40775791C>A	ENST00000372748.3	-	15	880	c.784G>T	c.(784-786)Ggg>Tgg	p.G262W		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	262	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			ACCGGTGGCCCAGTGGCACCG	0.617000													29	100					2.81731e-10	3.37783e-10	1	1	0
DGKG	1608	broad.mit.edu	37	3	186015219	186015219	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:186015219G>T	ENST00000265022.3	-	5	903	c.364C>A	c.(364-366)Cct>Act	p.P122T	DGKG_ENST00000544847.1_Missense_Mutation_p.P122T|DGKG_ENST00000344484.4_Missense_Mutation_p.P122T|DGKG_ENST00000382164.4_Missense_Mutation_p.P122T	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	122					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CCAGTATCAGGGGCACAGGCC	0.443000													53	79					1.78197e-24	2.64981e-24	1	1	0
ATP2B3	492	broad.mit.edu	37	X	152818635	152818635	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chrX:152818635G>T	ENST00000370186.1	+	11	2250	c.1924G>T	c.(1924-1926)Ggc>Tgc	p.G642C	ATP2B3_ENST00000393842.1_Missense_Mutation_p.G642C|ATP2B3_ENST00000370181.2_Missense_Mutation_p.G642C|ATP2B3_ENST00000359149.3_Missense_Mutation_p.G656C|ATP2B3_ENST00000349466.2_Missense_Mutation_p.G656C|ATP2B3_ENST00000263519.4_Missense_Mutation_p.G656C			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	656					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTCTCTGCAGGCCAGGAGCC	0.637000													32	9					9.17885e-22	1.32755e-21	1	1	0
TMEM165	55858	broad.mit.edu	37	4	56262446	56262446	+	Silent	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr4:56262446G>T	ENST00000381334.5	+	1	323	c.90G>T	c.(88-90)gcG>gcT	p.A30A	TMEM165_ENST00000506198.1_Silent_p.A30A|TMEM165_ENST00000542052.1_5'UTR	NM_018475.3	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	30						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			CCCCGGCTGCGGTCCGGGCCG	0.741000													3	5					1.23904e-05	1.35329e-05	1	1	0
VANGL2	57216	broad.mit.edu	37	1	160389322	160389322	+	Silent	SNP	G	G	A	rs148388993		TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:160389322G>A	ENST00000368061.2	+	4	1197	c.723G>A	c.(721-723)caG>caA	p.Q241Q	VANGL2_ENST00000483408.1_3'UTR	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	241					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCTGCGCCAGCTCCAGCCTC	0.652000													14	46					0	0	1	0	0
TREX2	11219	broad.mit.edu	37	X	152710396	152710396	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chrX:152710396G>A	ENST00000330912.2	-	13	2043	c.493C>T	c.(493-495)Cgg>Tgg	p.R165W	TREX2_ENST00000370231.2_Missense_Mutation_p.R165W|TREX2_ENST00000402951.1_Missense_Mutation_p.R208W|TREX2_ENST00000414588.1_Missense_Mutation_p.R207W|TREX2_ENST00000393862.2_Missense_Mutation_p.R165W|TREX2_ENST00000338525.2_Missense_Mutation_p.R165W|TREX2_ENST00000334497.2_Missense_Mutation_p.R208W|TREX2_ENST00000370232.1_Missense_Mutation_p.R208W			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	208					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCGGCCCCGGGCCCGGGTG	0.756000								Editing and processing nucleases					7	2					0	0	1	0	0
TLK1	9874	broad.mit.edu	37	2	172016855	172016855	+	Silent	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:172016855C>T	ENST00000360843.3	-	1	488	c.84G>A	c.(82-84)gcG>gcA	p.A28A	TLK1_ENST00000521943.1_Intron|TLK1_ENST00000442919.2_5'UTR|TLK1_ENST00000431350.2_Silent_p.A28A			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	28					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TGGCCGCCGCCGCCGAGCCCG	0.682000													16	46					0	0	1	0	0
KLHL42	57542	broad.mit.edu	37	12	27933832	27933832	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr12:27933832T>A	ENST00000381271.2	+	1	880	c.569T>A	c.(568-570)aTg>aAg	p.M190K	RP11-860B13.1_ENST00000545904.1_RNA	NM_020782.1	NP_065833.1			kelch-like family member 42																		GAGGCCCGGATGACTGGGACT	0.677000													19	21					0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50327264	50327264	+	Splice_Site	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr16:50327264G>T	ENST00000394697.2	+	6	1027		c.e6-1		ADCY7_ENST00000538642.1_Splice_Site|ADCY7_ENST00000564044.1_Splice_Site|ADCY7_ENST00000566433.2_Splice_Site|ADCY7_ENST00000254235.3_Splice_Site|ADCY7_ENST00000537579.1_Splice_Site			P51828	ADCY7_HUMAN	adenylate cyclase 7						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CCCACACCCAGGAGAACCTGC	0.647000													34	29					4.3181e-19	6.09145e-19	1	1	0
CPS1	1373	broad.mit.edu	37	2	211469872	211469872	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:211469872G>T	ENST00000233072.5	+	17	2079	c.1883G>T	c.(1882-1884)gGt>gTt	p.G628V	CPS1_ENST00000430249.2_Missense_Mutation_p.G634V|CPS1_ENST00000451903.2_Missense_Mutation_p.G177V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	628	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TCAGTGACAGGTTGGAAAGAA	0.408000													52	74					2.81731e-22	4.08331e-22	1	1	0
ZNF536	9745	broad.mit.edu	37	19	31039378	31039378	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:31039378G>T	ENST00000355537.3	+	4	2999	c.2852G>T	c.(2851-2853)gGa>gTa	p.G951V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	951					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AAAGTCCACGGAGTGGATGGT	0.532000													144	176					4.10442e-84	7.01427e-84	1	1	0
NAV3	89795	broad.mit.edu	37	12	78513164	78513164	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr12:78513164G>A	ENST00000397909.2	+	15	3361	c.3188G>A	c.(3187-3189)aGc>aAc	p.S1063N	NAV3_ENST00000536525.2_Missense_Mutation_p.S1063N|NAV3_ENST00000266692.7_Missense_Mutation_p.S1063N|NAV3_ENST00000228327.6_Missense_Mutation_p.S1063N			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1063	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCCACCAGCTCCTTTGGC	0.478000										HNSCC(70;0.22)			35	83					0	0	1	0	0
RBM10	8241	broad.mit.edu	37	X	47044595	47044595	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chrX:47044595G>T	ENST00000377604.3	+	18	2834	c.2092G>T	c.(2092-2094)Gag>Tag	p.E698*	RBM10_ENST00000329236.7_Nonsense_Mutation_p.E620*|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Nonsense_Mutation_p.E621*	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	698					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TGCCATCCTCGAGAAGAAGGT	0.552000													26	16					3.73808e-20	5.33901e-20	1	1	0
MYO9B	4650	broad.mit.edu	37	19	17306114	17306114	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:17306114G>A	ENST00000595618.1	+	22	4030	c.3878G>A	c.(3877-3879)gGc>gAc	p.G1293D	MYO9B_ENST00000397274.2_Missense_Mutation_p.G1293D|MYO9B_ENST00000594824.1_Missense_Mutation_p.G1293D	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1293	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGCCCCGGAGGCTCCACGCAG	0.706000													16	87					0	0	1	0	0
IL9R	3581	broad.mit.edu	37	X	155235122	155235122	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chrX:155235122C>G	ENST00000424344.3	+	7	1063	c.696C>G	c.(694-696)tgC>tgG	p.C232W	IL9R_ENST00000540897.1_Missense_Mutation_p.C278W|IL9R_ENST00000369423.2_Missense_Mutation_p.C288W|IL9R_ENST00000244174.5_Missense_Mutation_p.C253W			Q01113	IL9R_HUMAN	interleukin 9 receptor	253	Fibronectin type-III.				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGCCTGTGTGCTTCCAGGCTC	0.617000													21	14					0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409327	56409327	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:56409327C>T	ENST00000544374.1	-	1	620	c.592G>A	c.(592-594)Gat>Aat	p.D198N	OR5AP2_ENST00000302981.1_Missense_Mutation_p.D197N			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						AAGTGGGTATCAGAGCAAGAG	0.418000													124	153					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151970865	151970865	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr7:151970865C>T	ENST00000355193.2	-	7	1155	c.937G>A	c.(937-939)Gga>Aga	p.G313R	KMT2C_ENST00000262189.6_Missense_Mutation_p.G313R					lysine (K)-specific methyltransferase 2C																		GTGCCGGCTCCTGCAGCACAA	0.438000													20	350					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475149	140475149	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr5:140475149G>T	ENST00000194155.4	+	1	923	c.775G>T	c.(775-777)Gtt>Ttt	p.V259F		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		259	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.V259I(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACAGCCCCGTTGGATCCCA	0.502000													44	28					5.20837e-25	7.77859e-25	1	1	0
MUC17	140453	broad.mit.edu	37	7	100676143	100676143	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr7:100676143G>T	ENST00000306151.4	+	3	1510	c.1446G>T	c.(1444-1446)caG>caT	p.Q482H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	482	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAAAACTCAGGTGACCACTT	0.473000													574	235					1.0156e-250	1.75306e-250	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141625345	141625345	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:141625345C>T	ENST00000389484.3	-	27	5364	c.4393G>A	c.(4393-4395)Ggt>Agt	p.G1465S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1465					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)		TATTCATGACCTCGGATGATT	0.403000										TSP Lung(27;0.18)			36	122					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195516040	195516040	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:195516040G>T	ENST00000463781.3	-	2	2870	c.2411C>A	c.(2410-2412)aCc>aAc	p.T804N	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T804N|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	809	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGAAGGGGTAGCTGTGCC	0.592000													27	126					2.24059e-21	3.22702e-21	1	1	0
PPP2R2C	5522	broad.mit.edu	37	4	6377594	6377594	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr4:6377594C>A	ENST00000335585.5	-	4	422	c.399G>T	c.(397-399)aaG>aaT	p.K133N	PPP2R2C_ENST00000506140.1_Missense_Mutation_p.K126N|PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.K126N|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.K116N|PPP2R2C_ENST00000382599.4_Missense_Mutation_p.K133N	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	133					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CCTCTTCATCCTTCAGGTTGT	0.453000													26	102					4.74835e-14	6.1318e-14	1	1	0
LPA	4018	broad.mit.edu	37	6	161021994	161021994	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:161021994G>T	ENST00000447678.1	-	20	3202	c.3082C>A	c.(3082-3084)Ccg>Acg	p.P1028T	LPA_ENST00000316300.5_Missense_Mutation_p.P1028T	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3536	Kringle 9.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATAACATTCGGAGGGACGAAG	0.498000													21	72					1.40151e-16	1.90661e-16	1	1	0
PRLR	5618	broad.mit.edu	37	5	35065400	35065400	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr5:35065400C>G	ENST00000382002.5	-	10	2086	c.1660G>C	c.(1660-1662)Gat>Cat	p.D554H	PRLR_ENST00000342362.5_Missense_Mutation_p.D453H|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.D453H|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_3'UTR|PRLR_ENST00000231423.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	554					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATGTTGTTATCCATGACCCCG	0.488000													21	81					0	0	1	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118389483	118389483	+	RNA	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr10:118389483G>A	ENST00000537242.1	+	0	633				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GTGCTTCCAGGATGAACCTGA	0.522000													3	12					0	0	1	0	0
METTL21A	151194	broad.mit.edu	37	2	208488974	208488974	+	Silent	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:208488974G>T	ENST00000411432.1	-	2	342	c.126C>A	c.(124-126)gtC>gtA	p.V42V	METTL21A_ENST00000448823.2_Silent_p.V42V|METTL21A_ENST00000448007.2_Silent_p.V42V|METTL21A_ENST00000442521.1_Silent_p.V42V|METTL21A_ENST00000272839.3_Silent_p.V42V|METTL21A_ENST00000425132.1_Silent_p.V42V|METTL21A_ENST00000458426.1_Silent_p.V42V|METTL21A_ENST00000406927.2_Silent_p.V42V|METTL21A_ENST00000426075.1_Silent_p.V42V|METTL21A_ENST00000432416.1_Silent_p.V42V	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	42						integral to membrane	methyltransferase activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						CCACCGCTGCGACTCCCAGGT	0.483000													28	116					1.06801e-11	1.32203e-11	1	1	0
PCDHB8	56128	broad.mit.edu	37	5	140558329	140558329	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr5:140558329T>A	ENST00000239444.2	+	1	959	c.714T>A	c.(712-714)gaT>gaA	p.D238E		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		238	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGTCAATGATAATGCCCCTG	0.498000													109	414					0	0	1	0	0
UTS2R	2837	broad.mit.edu	37	17	80333310	80333310	+	Silent	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:80333310C>A	ENST00000313135.2	+	1	1158	c.1110C>A	c.(1108-1110)ctC>ctA	p.L370L		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	370						integral to membrane|plasma membrane				breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CTGACAGCCTCGTGCTGGCCC	0.786000													3	16					0.00024832	0.00026286	1	1	0
FGD5	152273	broad.mit.edu	37	3	14861521	14861521	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:14861521C>A	ENST00000285046.5	+	1	1053	c.943C>A	c.(943-945)Cat>Aat	p.H315N	FGD5_ENST00000543601.1_Missense_Mutation_p.H74N	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	315	Glu-rich.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCTGGAGGACCATGCACAGGA	0.572000													21	57					1.2644e-06	1.41704e-06	1	1	0
RGS9	8787	broad.mit.edu	37	17	63200348	63200348	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:63200348A>C	ENST00000449996.3	+	15	1195	c.1123A>C	c.(1123-1125)Aag>Cag	p.K375Q	RGS9_ENST00000443584.3_Missense_Mutation_p.K375Q|RGS9_ENST00000262406.9_Missense_Mutation_p.K378Q	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	378	RGS.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CATCACAGTGAAGGGGCTGAA	0.577000													19	93					0	0	1	0	0
DDX18	8886	broad.mit.edu	37	2	118582659	118582659	+	Silent	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:118582659G>A	ENST00000263239.2	+	9	1478	c.1350G>A	c.(1348-1350)ttG>ttA	p.L450L		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	450	Helicase C-terminal.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ACATTGATTTGCCCGTCTTGG	0.378000													48	152					0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17681146	17681146	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:17681146T>A	ENST00000375448.4	+	11	1300	c.1274T>A	c.(1273-1275)cTg>cAg	p.L425Q	PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	425					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GAATACCCGCTGGGCAGGATT	0.592000													18	25					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39119121	39119121	+	Silent	SNP	T	T	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr5:39119121T>C	ENST00000351578.6	-	15	2308	c.2118A>G	c.(2116-2118)agA>agG	p.R706R	FYB_ENST00000515010.1_Silent_p.R706R|FYB_ENST00000512982.1_Silent_p.R752R|FYB_ENST00000540520.1_Silent_p.R762R|FYB_ENST00000505428.1_Silent_p.R752R	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	706					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			AATATAGGACTCTAATTTCAC	0.279000													4	18					0	0	1	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99758302	99758302	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr7:99758302G>T	ENST00000360039.4	-	4	1102	c.710C>A	c.(709-711)cCc>cAc	p.P237H	GAL3ST4_ENST00000411994.1_Missense_Mutation_p.P136T|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.P237H|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.P175H|GAL3ST4_ENST00000423751.1_Missense_Mutation_p.P136T	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	237					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCTGTGGGGGGTTGGGGTC	0.562000													163	69					2.41769e-90	4.15238e-90	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158612639	158612639	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:158612639A>C	ENST00000368148.3	-	32	4750	c.4570T>G	c.(4570-4572)Tgt>Ggt	p.C1524G	SPTA1_ENST00000368147.3_Missense_Mutation_p.C1524G	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1524					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)					GATTCATCACAGGCTGTGGGC	0.448000													56	124					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28263612	28263612	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr15:28263612C>A	ENST00000354638.3	-	7	893	c.738G>T	c.(736-738)agG>agT	p.R246S	OCA2_ENST00000353809.5_Missense_Mutation_p.R246S|OCA2_ENST00000382996.2_Missense_Mutation_p.R246S	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	246					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TGTGCTCTTCCCTCCCAGGAC	0.612000									Oculocutaneous Albinism				16	23					6.94344e-10	8.25285e-10	1	1	0
MYH1	4619	broad.mit.edu	37	17	10402395	10402395	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:10402395G>T	ENST00000226207.5	-	29	3974	c.3880C>A	c.(3880-3882)Cag>Aag	p.Q1294K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1294						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCATCTAGCTGGCGTGAATAT	0.408000													45	56					8.48111e-28	1.30056e-27	1	1	0
SERPINA12	145264	broad.mit.edu	37	14	94964159	94964159	+	Silent	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr14:94964159C>A	ENST00000341228.2	-	3	1371	c.576G>T	c.(574-576)ctG>ctT	p.L192L	SERPINA12_ENST00000556881.1_Silent_p.L192L	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	192					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TATTCTCGATCAGGTTGTTAA	0.408000													29	91					2.65835e-16	3.58798e-16	1	1	0
PSG9	5678	broad.mit.edu	37	19	43772245	43772245	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:43772245G>C	ENST00000244293.7	-	2	187	c.121C>G	c.(121-123)Cag>Gag	p.Q41E	PSG9_ENST00000291752.5_Missense_Mutation_p.Q41E|PSG9_ENST00000593948.1_Missense_Mutation_p.Q41E|PSG9_ENST00000443718.3_Missense_Mutation_p.Q41E|PSG9_ENST00000270077.3_Missense_Mutation_p.Q41E|PSG9_ENST00000596730.1_Missense_Mutation_p.Q41E|PSG9_ENST00000418820.2_Missense_Mutation_p.Q41E			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	41	Ig-like V-type.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TTGGGTGGCTGGGCTTCAATC	0.483000													55	295					0	0	1	0	0
CYP3A4	1576	broad.mit.edu	37	7	99359685	99359685	+	Missense_Mutation	SNP	G	G	A	rs72552797		TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr7:99359685G>A	ENST00000354593.2	-	6	885	c.782C>T	c.(781-783)cCt>cTt	p.P261L	CYP3A4_ENST00000336411.2_Missense_Mutation_p.P411L			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	411					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			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)	GAACTTCTCAGGCTCTGTCCA	0.498000													101	107					0	0	1	0	0
HIST1H3D	8351	broad.mit.edu	37	6	26197386	26197386	+	Silent	SNP	T	T	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:26197386T>A	ENST00000377831.5	-	2	546	c.93A>T	c.(91-93)ccA>ccT	p.P31P	HIST1H3D_ENST00000356476.2_Silent_p.P31P	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	31					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				CGCCGGTGGCTGGAGCGCTCT	0.652000													58	73					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156810290	156810290	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr5:156810290G>T	ENST00000347377.6	+	28	3561	c.3130G>T	c.(3130-3132)Gtc>Ttc	p.V1044F	CYFIP2_ENST00000522463.1_Missense_Mutation_p.V848F|CYFIP2_ENST00000521420.1_Missense_Mutation_p.V1018F|CTB-47B11.3_ENST00000508443.1_RNA|CYFIP2_ENST00000377576.3_Missense_Mutation_p.V1044F|CTB-47B11.3_ENST00000520658.1_RNA|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000318218.6_Missense_Mutation_p.V1069F|CYFIP2_ENST00000541131.1_Missense_Mutation_p.V969F|CYFIP2_ENST00000435847.2_Missense_Mutation_p.V743F	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1069					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCGCCTGGAGGTCCGGATGAA	0.547000													10	20					0.000978159	0.0010151	1	1	0
TG	7038	broad.mit.edu	37	8	133900353	133900353	+	Silent	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr8:133900353G>T	ENST00000220616.4	+	10	2341	c.2301G>T	c.(2299-2301)ggG>ggT	p.G767G	TG_ENST00000377869.1_Silent_p.G767G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	767	Thyroglobulin type-1 7.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCACCGATGGGCAGTGGAGAC	0.582000													20	38					2.39187e-15	3.18453e-15	1	1	0
ORC4	5000	broad.mit.edu	37	2	148693089	148693089	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:148693089C>G	ENST00000535373.1	-	15	1733	c.1301G>C	c.(1300-1302)aGc>aCc	p.S434T	ORC4_ENST00000392857.4_Missense_Mutation_p.S434T|ORC4_ENST00000264169.2_Missense_Mutation_p.S434T|ORC4_ENST00000542387.1_Missense_Mutation_p.S217T|ORC4_ENST00000540442.1_Missense_Mutation_p.S360T|ORC4_ENST00000536575.1_Missense_Mutation_p.S350T|ORC4_ENST00000392858.1_Missense_Mutation_p.S434T	NM_001190879.2	NP_001177808.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	434					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						TCATAACCAGCTTAGTGAGGA	0.373000													22	73					0	0	1	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148712329	148712329	+	Silent	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr5:148712329C>A	ENST00000296721.4	+	17	2145	c.2047C>A	c.(2047-2049)Cgg>Agg	p.R683R	AFAP1L1_ENST00000515000.1_Silent_p.R683R	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	683							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGAGCGCCGGATTGACCT	0.577000													20	13					3.99206e-14	5.16487e-14	1	1	0
QDPR	5860	broad.mit.edu	37	4	17510915	17510915	+	Silent	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr4:17510915C>A	ENST00000281243.5	-	2	356	c.177G>T	c.(175-177)tcG>tcT	p.S59S	QDPR_ENST00000428702.2_Intron|QDPR_ENST00000513615.1_Silent_p.S59S|QDPR_ENST00000508623.1_Silent_p.S59S	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	59					dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	GCTCAGTGAACGAGTCTGTCA	0.502000													32	19					2.81731e-10	3.37783e-10	1	1	0
TSHZ3	57616	broad.mit.edu	37	19	31769262	31769262	+	Silent	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:31769262C>T	ENST00000240587.4	-	2	1764	c.1437G>A	c.(1435-1437)gcG>gcA	p.A479A		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	479					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CGTCAGTGACCGCTTTCTCCT	0.493000													17	368					0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155764528	155764528	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:155764528A>T	ENST00000159060.2	-	5	467	c.365T>A	c.(364-366)tTc>tAc	p.F122Y		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	122	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TTCCAGGTTGAAGAAATGCGC	0.537000													6	42					0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50148298	50148298	+	Silent	SNP	T	T	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:50148298T>C	ENST00000360565.3	+	2	139	c.15T>C	c.(13-15)gaT>gaC	p.D5D		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	5					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		AGGAAGAAGATGAGTCTCGAG	0.582000													12	52					0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681187	55681187	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:55681187C>A	ENST00000344514.1	-	1	871	c.872G>T	c.(871-873)aGc>aTc	p.S291I		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTTCCTCAGGCTATAAATCAG	0.343000													33	32					1.06801e-11	1.32203e-11	1	1	0
IL15	3600	broad.mit.edu	37	4	142641641	142641641	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr4:142641641T>C	ENST00000296545.7	+	4	876	c.32T>C	c.(31-33)aTt>aCt	p.I11T	IL15_ENST00000477265.1_5'UTR|IL15_ENST00000514653.1_5'UTR|IL15_ENST00000320650.4_Missense_Mutation_p.I11T|IL15_ENST00000529613.1_Missense_Mutation_p.I11T			P40933	IL15_HUMAN	interleukin 15	11					cell-cell signaling|immune response|positive regulation of interleukin-17 production	endosome|extracellular space|Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	cytokine activity|cytokine receptor binding|signal transducer activity			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_hematologic(180;0.158)					TTGAGAAGTATTTCCATCCAG	0.284000													45	23					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66204951	66204951	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:66204951G>C	ENST00000503581.1	-	4	890	c.353C>G	c.(352-354)aCc>aGc	p.T118S	EYS_ENST00000342421.5_Missense_Mutation_p.T118S|EYS_ENST00000393380.2_Missense_Mutation_p.T118S|EYS_ENST00000370621.3_Missense_Mutation_p.T118S|EYS_ENST00000370618.3_Missense_Mutation_p.T118S|EYS_ENST00000370616.2_Missense_Mutation_p.T118S	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	118					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTCCGTTGTGGTATTTTGCAC	0.363000													47	56					0	0	1	0	0
GBP7	388646	broad.mit.edu	37	1	89618440	89618440	+	Silent	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:89618440C>T	ENST00000294671.2	-	4	477	c.339G>A	c.(337-339)tcG>tcA	p.S113S		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	113						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CAAAGATCCACGAGTCACTCT	0.448000													18	32					0	0	1	0	0
NFS1	9054	broad.mit.edu	37	20	34260738	34260738	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr20:34260738C>A	ENST00000374092.4	-	12	1319	c.1249G>T	c.(1249-1251)Gag>Tag	p.E417*	NFS1_ENST00000541387.1_Nonsense_Mutation_p.E366*|NFS1_ENST00000540053.1_Nonsense_Mutation_p.E215*|NFS1_ENST00000498084.1_5'UTR|NFS1_ENST00000397425.1_Nonsense_Mutation_p.E357*|NFS1_ENST00000374085.1_Nonsense_Mutation_p.E357*	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	417					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding	p.E417Q(1)		central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TCCACTTCCTCCTCTGTAGTG	0.453000													26	69					3.73988e-18	5.22215e-18	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110457743	110457743	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr8:110457743G>T	ENST00000378402.5	+	38	5749	c.5645G>T	c.(5644-5646)tGc>tTc	p.C1882F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1882	IPT/TIG 11.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.C1884Y(1)		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)			GAAGTCTACTGCCGCACTCCC	0.438000										HNSCC(38;0.096)			15	29					1.5739e-10	1.91375e-10	1	1	0
KRTAP10-3	386682	broad.mit.edu	37	21	45978112	45978112	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr21:45978112G>A	ENST00000391620.1	-	1	531	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	163	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						CACACGGGGCGGCAGAGGAGG	0.697000													53	82					0	0	1	0	0
VCX	26609	broad.mit.edu	37	X	7811659	7811659	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chrX:7811659G>T	ENST00000381059.3	+	3	442	c.223G>T	c.(223-225)Ggc>Tgc	p.G75C	VCX_ENST00000341408.4_Missense_Mutation_p.G75C	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	75					chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				AGCGGCACCCGGCCCCAGCGA	0.701000													11	14					2.31682e-05	2.5105e-05	1	1	0
ZNF324B	388569	broad.mit.edu	37	19	58966874	58966874	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:58966874A>T	ENST00000391696.1	+	3	1465	c.533A>T	c.(532-534)cAg>cTg	p.Q178L	ZNF324B_ENST00000545523.1_Missense_Mutation_p.Q188L|ZNF324B_ENST00000336614.4_Missense_Mutation_p.Q188L			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCTGGGAGGCAGCCCAGGACG	0.667000													24	48					0	0	1	0	0
C20orf195	79025	broad.mit.edu	37	20	62187854	62187854	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr20:62187854A>G	ENST00000370098.3	+	2	930	c.838A>G	c.(838-840)Aag>Gag	p.K280E	C20orf195_ENST00000370097.1_Missense_Mutation_p.K280E	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	280										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CCGATCCTATAAGTTCACCAT	0.667000													112	173					0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102874876	102874876	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr14:102874876G>T	ENST00000359520.7	+	4	626	c.400G>T	c.(400-402)Gct>Tct	p.A134S	TECPR2_ENST00000558678.1_Missense_Mutation_p.A134S|TECPR2_ENST00000561228.1_3'UTR	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	134							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TACAGCTCTGGCTTGGAGCCC	0.348000													43	86					6.57855e-14	8.46341e-14	1	1	0
KCNH6	81033	broad.mit.edu	37	17	61613225	61613225	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:61613225A>T	ENST00000583023.1	+	6	1308	c.1297A>T	c.(1297-1299)Aag>Tag	p.K433*	KCNH6_ENST00000580652.1_Nonsense_Mutation_p.K433*|KCNH6_ENST00000314672.5_Nonsense_Mutation_p.K433*|KCNH6_ENST00000456941.2_Intron|KCNH6_ENST00000581784.1_Intron	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	433					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CCTAGAACACAAGATCGGCTG	0.617000													28	51					0	0	1	0	0
DPP8	54878	broad.mit.edu	37	15	65782610	65782610	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr15:65782610C>A	ENST00000341861.5	-	6	2371	c.791G>T	c.(790-792)aGa>aTa	p.R264I	DPP8_ENST00000321147.6_Missense_Mutation_p.R264I|DPP8_ENST00000321118.7_Missense_Mutation_p.R264I|DPP8_ENST00000300141.6_Missense_Mutation_p.R248I|DPP8_ENST00000339244.5_Missense_Mutation_p.R264I|DPP8_ENST00000358939.4_Missense_Mutation_p.R248I|DPP8_ENST00000559233.1_Missense_Mutation_p.R264I	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	264					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCCAGCTGATCTGGCATCTTC	0.378000													8	59					3.09899e-07	3.52484e-07	1	1	0
KRTAP10-11	386678	broad.mit.edu	37	21	46067215	46067215	+	Silent	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr21:46067215C>A	ENST00000334670.8	+	1	885	c.840C>A	c.(838-840)ccC>ccA	p.P280P	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60411	KR109_HUMAN	keratin associated protein 10-11	274						keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						TCTGCCGCCCCGCAAGCTCCC	0.657000													10	40					9.31168e-06	1.0219e-05	1	1	0
MATN1	4146	broad.mit.edu	37	1	31191784	31191784	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:31191784G>T	ENST00000373765.4	-	3	497	c.462C>A	c.(460-462)gaC>gaA	p.D154E	MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000414763.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	154	VWFA 1.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGCCTCCCGTCTGTCACCA	0.716000													3	3					0.115264	0.115939	1	1	0
UBAC1	10422	broad.mit.edu	37	9	138825299	138825299	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr9:138825299C>A	ENST00000371756.3	-	10	1382	c.1165G>T	c.(1165-1167)Ggg>Tgg	p.G389W		NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	389	STI1.					Golgi apparatus|plasma membrane	protein binding			NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		ATGACAGGCCCCGTTTCTGGA	0.562000													65	85					9.07738e-34	1.45365e-33	1	1	0
HTR3D	200909	broad.mit.edu	37	3	183754233	183754233	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:183754233C>T	ENST00000382489.3	+	4	451	c.451C>T	c.(451-453)Caa>Taa	p.Q151*	HTR3D_ENST00000453435.1_Intron|HTR3D_ENST00000334128.2_Nonsense_Mutation_p.Q16*|HTR3D_ENST00000428798.2_Nonsense_Mutation_p.Q90*	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	151						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CACAATAAGCCAATGTGGGTG	0.507000													32	44					0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34534324	34534324	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr15:34534324T>C	ENST00000354181.3	-	17	2633	c.2141A>G	c.(2140-2142)tAc>tGc	p.Y714C	SLC12A6_ENST00000451844.2_Missense_Mutation_p.Y526C|SLC12A6_ENST00000560164.1_Missense_Mutation_p.Y526C|SLC12A6_ENST00000458406.2_Missense_Mutation_p.Y655C|SLC12A6_ENST00000290209.5_Missense_Mutation_p.Y663C|SLC12A6_ENST00000397702.2_Missense_Mutation_p.Y655C|SLC12A6_ENST00000397707.2_Missense_Mutation_p.Y699C|SLC12A6_ENST00000560611.1_Missense_Mutation_p.Y714C|SLC12A6_ENST00000558589.1_Missense_Mutation_p.Y705C|SLC12A6_ENST00000558667.1_Missense_Mutation_p.Y714C			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	714					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AATGTACTTGTAGATCATACC	0.408000													52	64					0	0	1	0	0
IGHV1-18	28468	broad.mit.edu	37	14	106641854	106641854	+	RNA	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr14:106641854C>A	ENST00000390605.2	-	0	118																											CCAGCTGAACCTGGGAGTGGG	0.572000													49	82					3.19069e-20	4.56667e-20	1	1	0
ZNF600	162966	broad.mit.edu	37	19	53270452	53270452	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:53270452C>T	ENST00000338230.3	-	3	824	c.557G>A	c.(556-558)gGa>gAa	p.G186E		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TTGTTTGTCTCCTAAATGGGG	0.378000													51	251					0	0	1	0	0
PGLYRP1	8993	broad.mit.edu	37	19	46526242	46526242	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:46526242G>T	ENST00000008938.4	-	1	81	c.38C>A	c.(37-39)cCc>cAc	p.P13H		NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	13					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		AAGGAGGCTGGGGAGAGCCCA	0.682000													5	20					0.000602214	0.000630673	1	1	0
NAT10	55226	broad.mit.edu	37	11	34144127	34144127	+	Missense_Mutation	SNP	C	C	T	rs140125667	by1000genomes	TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:34144127C>T	ENST00000257829.3	+	9	1108	c.902C>T	c.(901-903)gCg>gTg	p.A301V	NAT10_ENST00000531159.2_Missense_Mutation_p.A229V|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	301						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				ATTGCTGGGGCGGTGGCATTT	0.572000													30	31					0	0	1	0	0
CIAPIN1	57019	broad.mit.edu	37	16	57464215	57464215	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr16:57464215C>T	ENST00000565961.1	-	6	705	c.586G>A	c.(586-588)Gtc>Atc	p.V196I	CIAPIN1_ENST00000567518.1_Silent_p.K248K|CIAPIN1_ENST00000569979.1_Intron|CIAPIN1_ENST00000569370.1_Missense_Mutation_p.V223I|CIAPIN1_ENST00000568940.1_Missense_Mutation_p.V223I|CIAPIN1_ENST00000394391.4_Silent_p.K261K			Q6FI81	CPIN1_HUMAN	cytokine induced apoptosis inhibitor 1	0					anti-apoptosis|apoptosis	cytoplasm|nucleolus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						GTTCCCTTGACTTCTCTTTTT	0.468000													40	34					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20807630	20807630	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:20807630C>G	ENST00000601440.1	-	4	1199	c.1053G>C	c.(1051-1053)aaG>aaC	p.K351N	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TAGAGGAGTACTTAAAGGCTT	0.393000													105	51					0	0	1	0	0
SS18	6760	broad.mit.edu	37	18	23667528	23667528	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr18:23667528T>C	ENST00000415083.2	-	2	138	c.83A>G	c.(82-84)aAt>aGt	p.N28S	SS18_ENST00000545952.1_5'UTR|SS18_ENST00000542420.2_Missense_Mutation_p.N5S|SS18_ENST00000539849.1_5'UTR|SS18_ENST00000542743.1_5'UTR|SS18_ENST00000585241.1_5'UTR|SS18_ENST00000269137.7_Missense_Mutation_p.N28S	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	28	Transcriptional activation.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					AAGATGGTTATTGTCATCCAA	0.308000			T	"""SSX1,  SSX2"""	synovial sarcoma								13	61					0	0	1	0	0
PTCRA	171558	broad.mit.edu	37	6	42893098	42893098	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:42893098C>A	ENST00000304672.1	+	4	605	c.524C>A	c.(523-525)cCc>cAc	p.P175H	PTCRA_ENST00000441198.1_Missense_Mutation_p.P150H|PTCRA_ENST00000446507.1_Missense_Mutation_p.P68H	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	175						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTGTGCGACCCCGCGGGCCCG	0.721000													4	3					0.00909568	0.00931257	1	1	0
SPHK2	56848	broad.mit.edu	37	19	49129491	49129491	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:49129491G>A	ENST00000443164.1	+	1	1274	c.569G>A	c.(568-570)cGg>cAg	p.R190Q	SPHK2_ENST00000599748.1_Missense_Mutation_p.R92Q|SPHK2_ENST00000599033.1_3'UTR|SPHK2_ENST00000600537.1_Missense_Mutation_p.R69Q|SPHK2_ENST00000598088.1_Missense_Mutation_p.R128Q|SPHK2_ENST00000245222.4_Missense_Mutation_p.R128Q|SPHK2_ENST00000601712.1_Missense_Mutation_p.R92Q|SPHK2_ENST00000340932.3_Missense_Mutation_p.R92Q|SPHK2_ENST00000599029.1_Missense_Mutation_p.R92Q			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	128	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		cgcggggcccggcgcAGAGCC	0.706000													9	31					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140401368	140401368	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:140401368G>A	ENST00000286349.3	+	2	597	c.406G>A	c.(406-408)Gcc>Acc	p.A136T		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	136						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GTCAATACCAGCCAACAGTCA	0.572000													44	82					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64395426	64395426	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:64395426C>G	ENST00000262043.3	+	4	2143	c.1803C>G	c.(1801-1803)caC>caG	p.H601Q	PHF3_ENST00000509330.1_Missense_Mutation_p.H601Q|PHF3_ENST00000393387.1_Missense_Mutation_p.H601Q			Q92576	PHF3_HUMAN	PHD finger protein 3	601					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATAAGTCACACGCTCATCCTG	0.403000													35	56					0	0	1	0	0
DHRS12	79758	broad.mit.edu	37	13	52345612	52345612	+	Silent	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr13:52345612C>T	ENST00000280056.2	-	8	631	c.579G>A	c.(577-579)ctG>ctA	p.L193L	DHRS12_ENST00000444610.2_Intron|DHRS12_ENST00000218981.1_Intron	NM_001031719.2	NP_001026889.1	A0PJE2	DHR12_HUMAN	dehydrogenase/reductase (SDR family) member 12	0							binding|oxidoreductase activity			cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		CTACCTTCCTCAGCTCCTGCT	0.552000													12	25					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390619	48390619	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr10:48390619G>T	ENST00000224600.4	-	1	372	c.259C>A	c.(259-261)Ctg>Atg	p.L87M		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	87	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GAGATGACCAGGCGAGGATCG	0.622000													25	56					1.42536e-11	1.76119e-11	1	1	0
PELP1	27043	broad.mit.edu	37	17	4575046	4575046	+	Silent	SNP	T	T	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:4575046T>G	ENST00000301396.4	-	16	3897	c.3672A>C	c.(3670-3672)ccA>ccC	p.P1224P	PELP1_ENST00000572293.1_Silent_p.P1130P|PELP1_ENST00000269230.7_Silent_p.P990P|PELP1_ENST00000574876.1_Silent_p.P1080P|PELP1_ENST00000436683.2_Silent_p.P856P			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	1080					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CAGGTGTCTCTGGTGGGGGCT	0.597000													16	15					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142272702	142272702	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:142272702C>A	ENST00000350721.4	-	11	2618	c.2497G>T	c.(2497-2499)Gaa>Taa	p.E833*	ATR_ENST00000383101.3_Nonsense_Mutation_p.E769*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	833					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCCAAGGATTCCAATATGTGC	0.313000								Other conserved DNA damage response genes					33	53					1.22384e-17	1.68492e-17	1	1	0
SLMO2	51012	broad.mit.edu	37	20	57612299	57612299	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr20:57612299C>T	ENST00000355937.4	-	3	416	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	SLMO2_ENST00000371033.5_Intron	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	80	PRELI/MSF1.									endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			ACAGAATGTTCTTGCACATAT	0.363000													10	54					0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870219	151870219	+	Silent	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chrX:151870219C>A	ENST00000329342.5	+	3	1134	c.909C>A	c.(907-909)ctC>ctA	p.L303L		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	303	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCTACCCACTCCTGCATGAGT	0.577000													116	53					2.32265e-44	3.81738e-44	1	1	0
RCOR3	55758	broad.mit.edu	37	1	211444606	211444606	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:211444606G>A	ENST00000367005.4	+	2	223	c.82G>A	c.(82-84)Ggg>Agg	p.G28R	RCOR3_ENST00000367006.4_Missense_Mutation_p.G86R|RCOR3_ENST00000419091.2_Missense_Mutation_p.G86R|RCOR3_ENST00000452621.2_Missense_Mutation_p.G86R	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	28	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		AGACAATGGAGGGATGCTTGT	0.348000													8	61					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23509632	23509632	+	Silent	SNP	A	A	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr5:23509632A>T	ENST00000296682.3	+	3	305	c.123A>T	c.(121-123)gcA>gcT	p.A41A		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	41	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAGAATGGGCAGAGATGGGAG	0.423000										HNSCC(3;0.000094)			92	123					0	0	1	0	0
MS4A7	58475	broad.mit.edu	37	11	60150752	60150752	+	Silent	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:60150752C>A	ENST00000358246.1	+	2	331	c.138C>A	c.(136-138)acC>acA	p.T46T	MS4A7_ENST00000534016.1_Silent_p.T46T|MS4A7_ENST00000530234.2_Silent_p.T46T|MS4A7_ENST00000300184.3_Silent_p.T46T|MS4A14_ENST00000531787.1_Intron	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	46						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						CAGAAACCACCGTTCTTGGGG	0.438000													16	57					9.16793e-09	1.06571e-08	1	1	0
NPFFR1	64106	broad.mit.edu	37	10	72015085	72015085	+	Silent	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr10:72015085G>T	ENST00000277942.5	-	4	928	c.921C>A	c.(919-921)acC>acA	p.T307T		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	307						integral to membrane|plasma membrane	neuropeptide receptor activity			endometrium(2)|lung(1)	3						AGGCGTAGACGGTGACCAGGT	0.647000													2	7					0.0784	0.0793237	1	1	0
TF	7018	broad.mit.edu	37	3	133485258	133485258	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:133485258G>C	ENST00000402696.3	+	12	1952	c.1467G>C	c.(1465-1467)aaG>aaC	p.K489N	TF_ENST00000264998.3_Missense_Mutation_p.K362N	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	489	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TCTACAATAAGATCAACCACT	0.547000													55	181					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151105748	151105748	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:151105748T>C	ENST00000474524.1	+	35	5172	c.5134T>C	c.(5134-5136)Tat>Cat	p.Y1712H	MED12L_ENST00000273432.4_Missense_Mutation_p.Y1572H	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1712					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCTCCTGCTGTATCACACACA	0.582000													18	57					0	0	1	0	0
CD86	942	broad.mit.edu	37	3	121774340	121774340	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:121774340G>A	ENST00000330540.2	+	1	120	c.4G>A	c.(4-6)Gat>Aat	p.D2N	CD86_ENST00000469710.1_5'UTR|CD86_ENST00000493101.1_Missense_Mutation_p.D2N|CD86_ENST00000264468.5_Missense_Mutation_p.D2N	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	2					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	AGCCAAAATGGATCCCCAGTG	0.453000													46	67					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130285926	130285926	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:130285926G>T	ENST00000358511.6	+	4	1694	c.1663G>T	c.(1663-1665)Gag>Tag	p.E555*	COL6A6_ENST00000453409.2_Nonsense_Mutation_p.E555*	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	555	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TAGCATCTTGGAGCCTGCAAA	0.473000													52	143					1.10885e-35	1.78402e-35	1	1	0
IGKV1-5	28299	broad.mit.edu	37	2	89247003	89247003	+	RNA	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:89247003G>A	ENST00000496168.1	-	0	347																											CTGATACCAGGCCAACCAGCT	0.527000													53	103					0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90348376	90348376	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr15:90348376G>T	ENST00000300060.6	-	4	1143	c.830C>A	c.(829-831)aCg>aAg	p.T277K		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	277	Interaction with HCoV-229E.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CAGCAAGTACGTGGACATCTT	0.562000													21	137					3.7963e-18	5.29018e-18	1	1	0
QSOX1	5768	broad.mit.edu	37	1	180166085	180166085	+	Silent	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:180166085G>T	ENST00000367602.3	+	12	2231	c.2157G>T	c.(2155-2157)ctG>ctT	p.L719L	QSOX1_ENST00000367600.5_Intron			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	719					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCTATTCCCTGTCCTTCATGG	0.642000													5	33					0.00116845	0.00121074	1	1	0
FSTL5	56884	broad.mit.edu	37	4	162459429	162459429	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr4:162459429T>A	ENST00000306100.5	-	10	1637	c.1201A>T	c.(1201-1203)Agc>Tgc	p.S401C	FSTL5_ENST00000379164.4_Missense_Mutation_p.S400C|FSTL5_ENST00000536695.1_Missense_Mutation_p.S400C|FSTL5_ENST00000427802.2_Missense_Mutation_p.S400C	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	401	Ig-like 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CGCACATTGCTTATGTGAACC	0.398000													35	171					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26776238	26776238	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr22:26776238A>G	ENST00000529632.2	+	16	3215	c.3019A>G	c.(3019-3021)Aga>Gga	p.R1007G	SEZ6L_ENST00000360929.3_Missense_Mutation_p.R943G|SEZ6L_ENST00000404234.3_Missense_Mutation_p.R1017G|SEZ6L_ENST00000403121.1_Missense_Mutation_p.R714G|SEZ6L_ENST00000343706.4_Missense_Mutation_p.R942G|SEZ6L_ENST00000402979.1_Missense_Mutation_p.R790G|SEZ6L_ENST00000248933.6_Missense_Mutation_p.R1018G|SEZ6L_ENST00000411842.2_3'UTR	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	1018						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GCAGGAAACCAGAGAGTATGA	0.463000													109	83					0	0	1	0	0
DDN	23109	broad.mit.edu	37	12	49391600	49391600	+	Silent	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr12:49391600C>A	ENST00000421952.2	-	2	1080	c.1059G>T	c.(1057-1059)gcG>gcT	p.A353A		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	353	Interaction with ACTN1.					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CACAGGGAGCCGCAGTTGCAG	0.612000													32	47					6.38683e-12	7.96325e-12	1	1	0
WFS1	7466	broad.mit.edu	37	4	6303292	6303292	+	Silent	SNP	G	G	A	rs71532858		TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr4:6303292G>A	ENST00000226760.1	+	8	1940	c.1770G>A	c.(1768-1770)acG>acA	p.T590T	WFS1_ENST00000503569.1_Silent_p.T590T	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	590					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GGTGGTTCACGTCTCTGGAGC	0.652000													53	45					0	0	1	0	0
AFG3L2	10939	broad.mit.edu	37	18	12348284	12348284	+	Nonsense_Mutation	SNP	G	G	A	rs149121681		TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr18:12348284G>A	ENST00000269143.3	-	13	1882	c.1651C>T	c.(1651-1653)Cga>Tga	p.R551*		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	551					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CCAATCACTCGTTCAATTGCC	0.418000													11	39					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22737821	22737821	+	RNA	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr4:22737821C>T	ENST00000511446.1	+	0	279				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA	NM_001277225.1	NP_001264154.1	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	p.I92I(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAGGTTTCATCAACCAGAAAG	0.408000													63	59					0	0	1	0	0
SYN2	6854	broad.mit.edu	37	3	12209919	12209919	+	RNA	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:12209919C>A	ENST00000432424.2	+	0	1271							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						GTTTGGCGGCCTGGACATCTG	0.502000													13	26					6.94344e-10	8.25285e-10	1	1	0
EXOC1	55763	broad.mit.edu	37	4	56734528	56734528	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr4:56734528A>G	ENST00000381295.2	+	5	790	c.442A>G	c.(442-444)Agt>Ggt	p.S148G	EXOC1_ENST00000346134.7_Missense_Mutation_p.S148G|EXOC1_ENST00000349598.6_Missense_Mutation_p.S148G	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	148					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AGAAAATCAGAGTGTGACAGG	0.333000													25	21					0	0	1	0	0
LSR	51599	broad.mit.edu	37	19	35749960	35749960	+	Silent	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:35749960C>T	ENST00000602122.1	+	3	1198	c.711C>T	c.(709-711)atC>atT	p.I237I	LSR_ENST00000354900.3_Silent_p.I237I|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000360798.3_Silent_p.I237I|LSR_ENST00000361790.3_Silent_p.I237I|LSR_ENST00000347609.4_Silent_p.I200I|LSR_ENST00000427250.1_Intron			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	237					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CAGAGCTCATCGTCCTTGGTG	0.627000													5	72					0	0	1	0	0
NPFFR1	64106	broad.mit.edu	37	10	72020416	72020416	+	Silent	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr10:72020416C>A	ENST00000277942.5	-	3	409	c.402G>T	c.(400-402)ctG>ctT	p.L134L		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	134						integral to membrane|plasma membrane	neuropeptide receptor activity			endometrium(2)|lung(1)	3						CAATGGCCACCAGTGTGAAAA	0.567000													7	3					0.307466	0.307466	1	1	0
PTGDS	5730	broad.mit.edu	37	9	139873752	139873752	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr9:139873752G>T	ENST00000224167.2	+	3	407	c.332G>T	c.(331-333)cGt>cTt	p.R111L	PTGDS_ENST00000460340.1_3'UTR|PTGDS_ENST00000371625.3_Splice_Site			P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	111					prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGGAGTCCCCGTGAGTGGGGC	0.697000													48	42					2.46787e-29	3.80141e-29	1	1	0
LPHN2	23266	broad.mit.edu	37	1	82456488	82456488	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:82456488G>T	ENST00000370728.1	+	25	4684	c.4039G>T	c.(4039-4041)Gga>Tga	p.G1347*	LPHN2_ENST00000359929.3_Nonsense_Mutation_p.G1291*|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.G1362*|LPHN2_ENST00000370721.1_Nonsense_Mutation_p.G1272*|LPHN2_ENST00000319517.6_Nonsense_Mutation_p.G1291*|LPHN2_ENST00000394879.1_Nonsense_Mutation_p.G1349*|LPHN2_ENST00000335786.5_Nonsense_Mutation_p.G1304*|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000370717.2_Nonsense_Mutation_p.G1362*|LPHN2_ENST00000370723.1_Nonsense_Mutation_p.G1349*|LPHN2_ENST00000271029.4_Nonsense_Mutation_p.G1319*|LPHN2_ENST00000370727.1_Nonsense_Mutation_p.G1319*|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370730.1_Nonsense_Mutation_p.G1304*			O95490	LPHN2_HUMAN	latrophilin 2	1347					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)		GAAGTCCGAGGGAACTGACAG	0.517000													37	88					5.8336e-16	7.84283e-16	1	1	0
EEFSEC	60678	broad.mit.edu	37	3	128060617	128060617	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:128060617G>T	ENST00000254730.6	+	5	1382	c.1328G>T	c.(1327-1329)cGg>cTg	p.R443L	EEFSEC_ENST00000483569.1_3'UTR|EEFSEC_ENST00000483457.1_Missense_Mutation_p.R388L	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	443						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	p.R443>?(1)|p.R443P(1)		NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						AACACGTGCCGGCTAGCCTTC	0.602000													6	85					3.59834e-05	3.86863e-05	1	1	0
ZNF804A	91752	broad.mit.edu	37	2	185802928	185802928	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:185802928A>T	ENST00000302277.6	+	4	3399	c.2805A>T	c.(2803-2805)gaA>gaT	p.E935D		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	935						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						CCCTGCTTGAACACAAAGAAA	0.388000													29	104					0	0	1	0	0
EXOSC2	23404	broad.mit.edu	37	9	133573562	133573562	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr9:133573562G>T	ENST00000372358.5	+	4	355	c.284G>T	c.(283-285)aGg>aTg	p.R95M	EXOSC2_ENST00000372352.3_Missense_Mutation_p.R95M|EXOSC2_ENST00000546165.1_Missense_Mutation_p.R95M|EXOSC2_ENST00000372351.3_Intron			Q13868	EXOS2_HUMAN	exosome component 2	95	S1 motif.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|positive regulation of cell growth|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|7S RNA binding|protein binding			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(13;0.0588)		OV - Ovarian serous cystadenocarcinoma(145;0.000324)		CAACAGAAGAGGTGGAAGGTG	0.517000													32	78					7.63505e-26	1.15028e-25	1	1	0
TTN	7273	broad.mit.edu	37	2	179631139	179631139	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:179631139C>A	ENST00000589042.1	-	41	9896	c.9672G>T	c.(9670-9672)agG>agT	p.R3224S	TTN_ENST00000360870.5_Missense_Mutation_p.R3224S|TTN_ENST00000460472.2_Missense_Mutation_p.R3178S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R3178S|TTN_ENST00000342992.6_Missense_Mutation_p.R3224S|TTN_ENST00000342175.6_Missense_Mutation_p.R3178S|TTN_ENST00000591111.1_Missense_Mutation_p.R3224S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2957							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)			AACTCCTGTTCCTTCCTGCCA	0.413000													29	131					7.01153e-11	8.58632e-11	1	1	0
KIAA1755	85449	broad.mit.edu	37	20	36869238	36869238	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr20:36869238G>A	ENST00000279024.4	-	3	1566	c.1295C>T	c.(1294-1296)gCt>gTt	p.A432V		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	432										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				AGAGGCTGCAGCTGCAGGAGA	0.562000													47	85					0	0	1	0	0
SLC25A16	8034	broad.mit.edu	37	10	70243298	70243298	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr10:70243298C>T	ENST00000265870.2	-	9	988	c.890G>A	c.(889-891)cGa>cAa	p.R297Q	SLC25A16_ENST00000539557.1_Missense_Mutation_p.R199Q|SLC25A16_ENST00000493963.1_5'UTR	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16	297					coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						GAGTCCTTTTCGAATTCCATG	0.383000													55	124					0	0	1	0	0
CATSPER2P1	440278	broad.mit.edu	37	15	44028269	44028269	+	RNA	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr15:44028269C>T	ENST00000381680.2	-	0	1515					NR_002318.2																						gccaccgcacccggccAATTT	0.527000													16	63					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36870109	36870109	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr20:36870109G>T	ENST00000279024.4	-	3	695	c.424C>A	c.(424-426)Cct>Act	p.P142T		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	142										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				AAAAGTATAGGGTAGGCTGGC	0.527000													76	137					1.7488e-33	2.78752e-33	1	1	0
BSDC1	55108	broad.mit.edu	37	1	32843616	32843616	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:32843616C>A	ENST00000341071.7	-	8	693	c.682G>T	c.(682-684)Gcg>Tcg	p.A228S	BSDC1_ENST00000413080.1_Missense_Mutation_p.A150S|BSDC1_ENST00000455895.2_Missense_Mutation_p.A211S|BSDC1_ENST00000446293.2_Missense_Mutation_p.A228S|BSDC1_ENST00000449308.1_Missense_Mutation_p.A211S|BSDC1_ENST00000419121.2_Missense_Mutation_p.A155S|BSDC1_ENST00000526031.1_Missense_Mutation_p.A116S			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	211							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTCTGTTCCGCCCGCTGCTTC	0.637000													15	24					0.000422831	0.000444847	1	1	0
QSER1	79832	broad.mit.edu	37	11	32955505	32955505	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:32955505G>T	ENST00000399302.2	+	4	2649	c.2314G>T	c.(2314-2316)Ggt>Tgt	p.G772C	QSER1_ENST00000527788.1_Missense_Mutation_p.G533C	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	772	Gln-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCAGATGGAAGGTCATGTTAT	0.413000													100	197					8.78727e-49	1.45818e-48	1	1	0
SCRIB	23513	broad.mit.edu	37	8	144891753	144891753	+	Missense_Mutation	SNP	C	C	T	rs148934748		TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr8:144891753C>T	ENST00000356994.2	-	14	1672	c.1666G>A	c.(1666-1668)Ggg>Agg	p.G556R	SCRIB_ENST00000377533.3_Missense_Mutation_p.G475R|SCRIB_ENST00000320476.3_Missense_Mutation_p.G556R	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	556	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TCTTCCTCCCCGCCAGCAGTC	0.692000													24	122					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6204158	6204158	+	Silent	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:6204158G>A	ENST00000262450.3	-	12	1959	c.1860C>T	c.(1858-1860)gaC>gaT	p.D620D	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	620	Chromo 2.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGGTGCACTGGTCGTAGGGCA	0.582000													35	83					0	0	1	0	0
ULK2	9706	broad.mit.edu	37	17	19680990	19680990	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:19680990C>A	ENST00000395544.4	-	26	3455	c.2956G>T	c.(2956-2958)Gaa>Taa	p.E986*	ULK2_ENST00000361658.2_Nonsense_Mutation_p.E986*	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	986					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					ACAATATCTTCGGTCTGCTGA	0.393000													13	43					4.3838e-07	4.96975e-07	1	1	0
NLRP12	91662	broad.mit.edu	37	19	54308690	54308690	+	Missense_Mutation	SNP	C	C	G	rs148745997	by1000genomes	TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:54308690C>G	ENST00000324134.6	-	5	2426	c.2258G>C	c.(2257-2259)cGc>cCc	p.R753P	NLRP12_ENST00000351894.4_Missense_Mutation_p.R753P|NLRP12_ENST00000535162.1_Missense_Mutation_p.R753P|NLRP12_ENST00000391773.1_Missense_Mutation_p.R754P|NLRP12_ENST00000391775.3_Missense_Mutation_p.R753P|NLRP12_ENST00000354278.3_Missense_Mutation_p.R753P|NLRP12_ENST00000345770.5_Missense_Mutation_p.R754P|NLRP12_ENST00000391772.1_Missense_Mutation_p.R754P	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	753					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)		GCTGGAGATGCGGCACCTCTT	0.473000													23	150					0	0	1	0	0
PPP1R21	129285	broad.mit.edu	37	2	48737202	48737202	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:48737202G>T	ENST00000294952.8	+	20	2291	c.2134G>T	c.(2134-2136)Gca>Tca	p.A712S	PPP1R21_ENST00000281394.4_Missense_Mutation_p.A701S|PPP1R21_ENST00000449090.2_Missense_Mutation_p.A670S|PPP1R21_ENST00000476199.1_3'UTR	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN	protein phosphatase 1, regulatory subunit 21	712										endometrium(2)|kidney(4)|lung(9)	15						GTCTAAGGAAGCATTGACAGA	0.388000													15	30					2.62699e-14	3.41161e-14	1	1	0
KRTAP5-1	387264	broad.mit.edu	37	11	1605902	1605902	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:1605902G>T	ENST00000382171.2	-	1	611	c.578C>A	c.(577-579)tCc>tAc	p.S193Y	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	193	8 X 4 AA repeats of C-C-X-P.					keratin filament		p.S193Y(2)		endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACCCCCCTTGGATCCCCCACA	0.672000													6	46					0.000673444	0.000702058	1	1	0
SSPO	23145	broad.mit.edu	37	7	149519178	149519178	+	RNA	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr7:149519178G>T	ENST00000378016.2	+	0	12982							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCGGGCCTGGCCTCTCGCTC	0.721000													83	15					1.8615e-32	2.93988e-32	1	1	0
IL22	50616	broad.mit.edu	37	12	68646313	68646313	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr12:68646313C>A	ENST00000538666.1	-	4	437	c.367G>T	c.(367-369)Gcc>Tcc	p.A123S	IL22_ENST00000328087.4_Missense_Mutation_p.A123S			Q9GZX6	IL22_HUMAN	interleukin 22	123					acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		CTGAGCCTGGCCAGGAAGGGC	0.537000													15	42					1.3612e-06	1.52304e-06	1	1	0
CPS1	1373	broad.mit.edu	37	2	211477012	211477012	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:211477012G>T	ENST00000233072.5	+	20	2759	c.2563G>T	c.(2563-2565)Gcc>Tcc	p.A855S	CPS1_ENST00000430249.2_Missense_Mutation_p.A861S|CPS1_ENST00000451903.2_Missense_Mutation_p.A404S	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	855					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CTATGCCATTGCCAAGGTAAG	0.413000													49	129					3.73646e-36	6.03987e-36	1	1	0
WDTC1	23038	broad.mit.edu	37	1	27620600	27620600	+	Silent	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:27620600C>T	ENST00000319394.3	+	8	1285	c.750C>T	c.(748-750)taC>taT	p.Y250Y	WDTC1_ENST00000361771.3_Silent_p.Y250Y	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	250							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CCCAGTATTACGTAGCAGGTA	0.587000													22	57					0	0	1	0	0
DDX31	64794	broad.mit.edu	37	9	135523934	135523934	+	Missense_Mutation	SNP	G	G	A	rs147990447	byFrequency	TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr9:135523934G>A	ENST00000372159.3	-	10	1211	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C	DDX31_ENST00000372153.1_Missense_Mutation_p.R354C|DDX31_ENST00000310532.2_Missense_Mutation_p.R354C|DDX31_ENST00000438527.3_Missense_Mutation_p.R225C	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	354	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		ATTCCTTTGCGGAGTCTGTTT	0.378000													34	99					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415976	105415976	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr14:105415976G>T	ENST00000333244.5	-	7	5931	c.5812C>A	c.(5812-5814)Ccc>Acc	p.P1938T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1938						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCGCCTTGGGGCCTTTCAGG	0.607000													93	200					4.21487e-37	6.84543e-37	1	1	0
PDE11A	50940	broad.mit.edu	37	2	178592803	178592803	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:178592803C>A	ENST00000286063.5	-	11	2203	c.1886G>T	c.(1885-1887)cGg>cTg	p.R629L	PDE11A_ENST00000389683.3_Missense_Mutation_p.R185L|PDE11A_ENST00000358450.4_Missense_Mutation_p.R379L|PDE11A_ENST00000409504.1_Missense_Mutation_p.R271L|PDE11A_ENST00000449286.2_Missense_Mutation_p.R271L|PDE11A_ENST00000497003.1_5'UTR	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	629					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.R629L(1)|p.R379L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CATGAACATCCGGAGAGCAGC	0.463000									Primary Pigmented Nodular Adrenocortical Disease, Familial				38	52					2.52637e-11	3.11043e-11	1	1	0
SEMA3A	10371	broad.mit.edu	37	7	83610795	83610795	+	Splice_Site	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr7:83610795C>A	ENST00000265362.3	-	14	1809		c.e14-1		SEMA3A_ENST00000436949.1_Splice_Site	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A						axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ATAGTTGTTGCTGTGGAAAGA	0.403000													21	14					6.44725e-10	7.68969e-10	1	1	0
MGAM	8972	broad.mit.edu	37	7	141767225	141767225	+	Splice_Site	SNP	C	C	T	rs7778384	by1000genomes	TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr7:141767225C>T	ENST00000475668.2	+	42	5058	c.5004_splice	c.e42+1	p.R1668_splice	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1668	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCTGGAGCGCGTGAGTATGG	0.592000													11	154					0	0	1	0	0
ATF1	466	broad.mit.edu	37	12	51203289	51203289	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr12:51203289A>T	ENST00000262053.3	+	4	267	c.245A>T	c.(244-246)gAc>gTc	p.D82V	ATF1_ENST00000539132.1_Intron	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	82	KID.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|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				EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4						AGAAAAGGAGACGGAGAAAAT	0.388000			T	"""EWSR1, FUS"""	"""malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """								20	64					0	0	1	0	0
C11orf88	399949	broad.mit.edu	37	11	111385598	111385598	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:111385598C>T	ENST00000529167.1	+	1	89	c.89C>T	c.(88-90)tCg>tTg	p.S30L	C11orf88_ENST00000375618.4_Missense_Mutation_p.S30L|C11orf88_ENST00000332814.6_Missense_Mutation_p.S30L|RP11-794P6.6_ENST00000530283.1_RNA			Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	30										endometrium(1)|large_intestine(3)|lung(2)	6						GCTGGCTCCTCGGAACAAGAT	0.567000											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	59					0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26864260	26864260	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:26864260C>T	ENST00000226247.2	+	8	1782	c.1753C>T	c.(1753-1755)Ccc>Tcc	p.P585S	FOXN1_ENST00000579795.1_Missense_Mutation_p.P585S	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	585					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CCCCCCTGGGCCCTGTCTGAC	0.652000													6	99					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114467646	114467646	+	Splice_Site	SNP	T	T	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr9:114467646T>G	ENST00000394779.3	-	17	2673		c.e17-2		C9orf84_ENST00000318737.4_Splice_Site|C9orf84_ENST00000394777.4_Splice_Site|C9orf84_ENST00000374287.3_Splice_Site	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84											breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGGTGCTTCCTAAATAAGAGA	0.313000													34	32					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139674293	139674293	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr8:139674293G>T	ENST00000303045.6	-	43	3666	c.3220C>A	c.(3220-3222)Cag>Aag	p.Q1074K	COL22A1_ENST00000435777.1_Missense_Mutation_p.Q1054K|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1074	Collagen-like 9.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCTGGGCCCTGGGGGCCAGGG	0.547000										HNSCC(7;0.00092)			47	77					7.34454e-26	1.10895e-25	1	1	0
TSNAX-DISC1	100303453	broad.mit.edu	37	1	231673021	231673021	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:231673021G>C	ENST00000602962.1	+	3	342	c.184G>C	c.(184-186)Gat>Cat	p.D62H	TSNAX_ENST00000602825.1_3'UTR|TSNAX_ENST00000366639.4_Missense_Mutation_p.D62H																							ACTTAGTCGGGATATAACTGT	0.328000													26	51					0	0	1	0	0
FBXO43	286151	broad.mit.edu	37	8	101153824	101153824	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr8:101153824T>A	ENST00000428847.2	-	2	974	c.658A>T	c.(658-660)Agt>Tgt	p.S220C		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	220					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			AATTTTTGACTGCATGAAGTC	0.333000													34	45					0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158299232	158299232	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:158299232C>T	ENST00000368168.3	-	4	921	c.814G>A	c.(814-816)Ggg>Agg	p.G272R		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	272	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GCCGCCTCCCCATCTGCCACA	0.592000													36	77					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43415472	43415472	+	Silent	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:43415472G>A	ENST00000244533.3	+	16	4031	c.3672G>A	c.(3670-3672)gtG>gtA	p.V1224V	ABCC10_ENST00000372530.4_Silent_p.V1252V	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1252						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGGACGTGGTGTTGGCGTACC	0.672000													62	329					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5489045	5489045	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr18:5489045C>A	ENST00000341928.2	-	2	478	c.138G>T	c.(136-138)gaG>gaT	p.E46D	EPB41L3_ENST00000342933.3_Missense_Mutation_p.E46D|EPB41L3_ENST00000540638.2_Missense_Mutation_p.E46D|EPB41L3_ENST00000400111.3_Missense_Mutation_p.E46D|EPB41L3_ENST00000544123.1_Missense_Mutation_p.E46D	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	46					cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CGGCGAACTGCTCCAGGGCCT	0.731000													4	22					0.00909568	0.00931257	1	1	0
XPC	7508	broad.mit.edu	37	3	14199885	14199885	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:14199885C>G	ENST00000285021.7	-	9	1712	c.1498G>C	c.(1498-1500)Gca>Cca	p.A500P	XPC_ENST00000449060.2_Missense_Mutation_p.A463P	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	500	Interaction with RAD23B.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTGAGGATGCCGCTGGCAAG	0.542000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				24	57					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107437788	107437788	+	Silent	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chrX:107437788C>T	ENST00000334504.7	-	16	1211	c.978G>A	c.(976-978)ggG>ggA	p.G326G	COL4A6_ENST00000372216.4_Silent_p.G327G|COL4A6_ENST00000394872.2_Silent_p.G327G|COL4A6_ENST00000545689.1_Silent_p.G326G|COL4A6_ENST00000538570.1_Silent_p.G326G	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	327	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ATCCATTAAGCCCAGGAAATC	0.413000									Alport syndrome with Diffuse Leiomyomatosis				55	86					0	0	1	0	0
ITGA6	3655	broad.mit.edu	37	2	173355982	173355982	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:173355982A>G	ENST00000375221.2	+	23	3132	c.2929A>G	c.(2929-2931)Aga>Gga	p.R977G	AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264107.7_Missense_Mutation_p.R938G|ITGA6_ENST00000409080.1_Missense_Mutation_p.R938G|ITGA6_ENST00000264106.6_Missense_Mutation_p.R977G|ITGA6_ENST00000343713.4_Missense_Mutation_p.R933G|ITGA6_ENST00000409532.1_Missense_Mutation_p.R819G			P23229	ITA6_HUMAN	integrin, alpha 6	977					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TGTGAACATCAGATGCCCGCT	0.478000													56	221					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23239051	23239051	+	Silent	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:23239051C>G	ENST00000400191.3	+	15	2829	c.2811C>G	c.(2809-2811)gcC>gcG	p.A937A	EPHB2_ENST00000374630.3_Silent_p.A937A|EPHB2_ENST00000374632.3_Silent_p.A938A|EPHB2_ENST00000374627.1_Silent_p.A932A	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	937	SAM.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TCGCCAATGCCGGCTTCACCT	0.587000													11	72					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20476843	20476843	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr16:20476843G>T	ENST00000573854.1	+	3	296	c.182G>T	c.(181-183)gGc>gTc	p.G61V	ACSM2A_ENST00000417235.2_5'UTR|ACSM2A_ENST00000575690.1_Missense_Mutation_p.G61V|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Missense_Mutation_p.G61V|ACSM2A_ENST00000396104.2_Missense_Mutation_p.G61V|ACSM2A_ENST00000219054.6_Missense_Mutation_p.G61V	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	61					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CCTCAGGCTGGCAAGCGACTC	0.512000													18	38					6.49762e-13	8.22074e-13	1	1	0
SLC17A2	10246	broad.mit.edu	37	6	25917309	25917309	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:25917309G>T	ENST00000377850.3	-	7	1180	c.656C>A	c.(655-657)aCt>aAt	p.T219N	SLC17A2_ENST00000360488.3_Missense_Mutation_p.T219N|SLC17A2_ENST00000265425.3_Missense_Mutation_p.T219N			O00624	NPT3_HUMAN	solute carrier family 17, member 2	219					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GACACAGCCAGTGCTACCTGG	0.468000													24	97					4.7796e-09	5.57485e-09	1	1	0
RAB11FIP1	80223	broad.mit.edu	37	8	37734787	37734787	+	Silent	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr8:37734787C>T	ENST00000330843.4	-	2	666	c.654G>A	c.(652-654)aaG>aaA	p.K218K	RAB11FIP1_ENST00000522727.1_Silent_p.K70K|RAB11FIP1_ENST00000524118.1_Silent_p.K70K|RAB11FIP1_ENST00000287263.4_Silent_p.K218K	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	218	Poly-Lys.				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)			AAAGTAAGGTCTTGATCTTTG	0.493000													48	193					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210561473	210561473	+	Splice_Site	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:210561473G>T	ENST00000360351.4	+	8	4893		c.e8+1		MAP2_ENST00000475600.1_Splice_Site|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Splice_Site|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2						central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGGAAAAAAGGTTCATTTAAC	0.323000													16	52					2.23348e-06	2.47484e-06	1	1	0
PDZRN4	29951	broad.mit.edu	37	12	41582573	41582573	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr12:41582573T>G	ENST00000402685.2	+	1	324	c.316T>G	c.(316-318)Ttc>Gtc	p.F106V		NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	106							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GCACTGCGACTTCGGCCCTGC	0.761000													2	2					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135971	55135971	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:55135971C>A	ENST00000314706.3	+	1	612	c.612C>A	c.(610-612)aaC>aaA	p.N204K		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TCATTGACAACTTCCTGTGTG	0.428000													39	150					1.62957e-23	2.40239e-23	1	1	0
MUC6	4588	broad.mit.edu	37	11	1017255	1017255	+	Missense_Mutation	SNP	G	G	A	rs71472140		TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:1017255G>A	ENST00000421673.2	-	31	5596	c.5546C>T	c.(5545-5547)aCt>aTt	p.T1849I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1849	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTACTTGGAGTCACCAAGGA	0.547000													63	333					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123594318	123594318	+	Missense_Mutation	SNP	C	C	A	rs142125830	byFrequency	TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr7:123594318C>A	ENST00000340011.5	+	3	1051	c.694C>A	c.(694-696)Ccc>Acc	p.P232T	SPAM1_ENST00000439500.1_Missense_Mutation_p.P232T|SPAM1_ENST00000223028.7_Missense_Mutation_p.P232T|SPAM1_ENST00000460182.1_Missense_Mutation_p.P232T|SPAM1_ENST00000402183.2_Missense_Mutation_p.P232T	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	232					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CTATAAGAAACCCGGTTACAA	0.363000													95	63					1.13884e-41	1.8584e-41	1	1	0
FAM91A1	157769	broad.mit.edu	37	8	124818329	124818329	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr8:124818329G>T	ENST00000334705.7	+	20	2138	c.1892G>T	c.(1891-1893)cGt>cTt	p.R631L	FAM91A1_ENST00000521166.1_Missense_Mutation_p.R631L	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	631								p.R631H(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			GAGTTCACTCGTGTCAATATG	0.383000													74	112					2.51111e-31	3.93865e-31	1	1	0
PROKR2	128674	broad.mit.edu	37	20	5294818	5294818	+	Silent	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr20:5294818G>T	ENST00000546004.1	-	2	444	c.198C>A	c.(196-198)gtC>gtA	p.V66V	PROKR2_ENST00000217270.3_Silent_p.V66V			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	66						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.V66V(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CGATGCCGCAGACCAGCATGA	0.537000										HNSCC(71;0.22)			61	44					4.84198e-49	8.07388e-49	1	1	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													6	70					0	0	1	0	0
SLC38A7	55238	broad.mit.edu	37	16	58713927	58713927	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr16:58713927G>C	ENST00000570101.1	-	2	987	c.104C>G	c.(103-105)cCc>cGc	p.P35R	SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000564010.1_Intron|SLC38A7_ENST00000564391.1_Missense_Mutation_p.P35R|SLC38A7_ENST00000219320.4_Missense_Mutation_p.P35R|SLC38A7_ENST00000564100.1_Missense_Mutation_p.P35R			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	35					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						CTCACTCTTGGGGGCTGTGTC	0.632000													15	8					0	0	1	0	0
LARP6	55323	broad.mit.edu	37	15	71128780	71128780	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr15:71128780C>A	ENST00000299213.8	-	2	335	c.265G>T	c.(265-267)Gat>Tat	p.D89Y		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	89	HTH La-type RNA-binding.				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						AACTCCTCATCCGGGGGCTTC	0.517000													54	76					1.0442e-30	1.623e-30	1	1	0
OR2T2	401992	broad.mit.edu	37	1	248616420	248616420	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:248616420C>A	ENST00000342927.3	+	1	344	c.322C>A	c.(322-324)Ctg>Atg	p.L108M		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTACCTGACCCTGATTGGAGG	0.547000													26	262					2.12542e-12	2.6694e-12	1	1	0
GART	2618	broad.mit.edu	37	21	34911476	34911476	+	Splice_Site	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr21:34911476C>A	ENST00000381831.3	-	2	409		c.e2+1		GART_ENST00000361093.5_Splice_Site|GART_ENST00000381815.4_Splice_Site|GART_ENST00000381839.3_Splice_Site	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase						'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	AACATGATTACCGGTATTTGA	0.408000													37	64					2.42023e-17	3.3254e-17	1	1	0
CXorf27	25763	broad.mit.edu	37	X	37850253	37850253	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chrX:37850253T>A	ENST00000341016.3	+	1	184	c.161T>A	c.(160-162)cTt>cAt	p.L54H	TM4SF2_ENST00000465127.1_Intron	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN	chromosome X open reading frame 27	54							DNA binding	p.L54H(1)		central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						AATACCCTCCTTACCTTGCTC	0.512000													39	19					0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13896089	13896089	+	Silent	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:13896089C>T	ENST00000285018.4	-	3	814	c.510G>A	c.(508-510)cgG>cgA	p.R170R		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	170					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						GCTTGATCTCCCGGGCATCCA	0.637000													54	151					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241897	3241897	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chrX:3241897C>G	ENST00000217939.6	-	5	1983	c.1829G>C	c.(1828-1830)aGc>aCc	p.S610T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	610	Ig-like C2-type 2.					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)				AAGAATCCAGCTAAGGTGGGC	0.458000													30	10					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28554168	28554168	+	Silent	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:28554168C>T	ENST00000452236.2	-	1	944	c.327G>A	c.(325-327)caG>caA	p.Q109Q	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	109	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GCACCCAAGACTGGAGCTCCT	0.527000													35	206					0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64211252	64211252	+	Silent	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr18:64211252G>T	ENST00000262150.2	-	7	1462	c.1170C>A	c.(1168-1170)ggC>ggA	p.G390G	CDH19_ENST00000540086.1_Silent_p.G390G	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	390	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CAGACACCACGCCTACAAATG	0.373000													25	45					4.7796e-09	5.57485e-09	1	1	0
CNTN6	27255	broad.mit.edu	37	3	1424653	1424653	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:1424653G>T	ENST00000446702.2	+	18	2821	c.2194G>T	c.(2194-2196)Gag>Tag	p.E732*	CNTN6_ENST00000539053.1_Nonsense_Mutation_p.E660*|CNTN6_ENST00000350110.2_Nonsense_Mutation_p.E732*			Q9UQ52	CNTN6_HUMAN	contactin 6	732	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GCAGAATGGGGAGGGATTTGG	0.393000													26	39					4.59853e-10	5.49424e-10	1	1	0
PMS1	5378	broad.mit.edu	37	2	190717471	190717471	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:190717471A>T	ENST00000441310.2	+	7	1023	c.790A>T	c.(790-792)Agt>Tgt	p.S264C	PMS1_ENST00000432292.3_Missense_Mutation_p.S88C|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000409823.3_Missense_Mutation_p.S225C|PMS1_ENST00000418224.3_Missense_Mutation_p.S88C|PMS1_ENST00000447232.2_Missense_Mutation_p.S264C	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	264					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			CTTCATAAACAGTCGACCAGT	0.318000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					30	85					0	0	1	0	0
ZNF563	147837	broad.mit.edu	37	19	12429697	12429697	+	Missense_Mutation	SNP	C	C	T	rs142547744		TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:12429697C>T	ENST00000293725.5	-	4	1347	c.1142G>A	c.(1141-1143)cGa>cAa	p.R381Q		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CATGTGTCTTCGAAAGCTTGA	0.413000													90	281					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77526582	77526582	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:77526582C>G	ENST00000461745.1	+	3	1306	c.406C>G	c.(406-408)Cga>Gga	p.R136G	ROBO2_ENST00000487694.3_Missense_Mutation_p.R152G|ROBO2_ENST00000332191.8_Missense_Mutation_p.R136G	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	136	Ig-like C2-type 2.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGATGACTTCCGACAAAACCC	0.463000													24	91					0	0	1	0	0
HEXDC	284004	broad.mit.edu	37	17	80400335	80400335	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:80400335G>A	ENST00000337014.6	+	12	2099	c.1625G>A	c.(1624-1626)cGg>cAg	p.R542Q	HEXDC_ENST00000327949.9_3'UTR|HEXDC_ENST00000577944.1_Missense_Mutation_p.G515R	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	102					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TGGGCAATACGGGCCCACGTG	0.667000													14	91					0	0	1	0	0
SDHAF2	54949	broad.mit.edu	37	11	61213472	61213472	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:61213472G>T	ENST00000301761.2	+	4	504	c.430G>T	c.(430-432)Gct>Tct	p.A144S	RP11-286N22.8_ENST00000544880.1_Intron|SDHAF2_ENST00000537782.1_3'UTR|SDHAF2_ENST00000543265.1_3'UTR|SDHAF2_ENST00000542074.1_3'UTR|RP11-286N22.8_ENST00000543044.1_Missense_Mutation_p.A132S	NM_017841.2	NP_060311.1	Q9NX18	SDHF2_HUMAN	succinate dehydrogenase complex assembly factor 2	144					mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding			large_intestine(3)|lung(4)|ovary(2)	9						GAGAGACTTTGCTAAAAACAA	0.468000											OREG0021000	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	75	89					1.38705e-31	2.18056e-31	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158609713	158609713	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:158609713G>T	ENST00000368148.3	-	34	5002	c.4822C>A	c.(4822-4824)Cgt>Agt	p.R1608S	SPTA1_ENST00000368147.3_Missense_Mutation_p.R1608S	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1608					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	p.R1608C(1)		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)					CTCTGTTGACGACTGGCCTCA	0.463000													46	107					4.44401e-20	6.32099e-20	1	1	0
PRDX4	10549	broad.mit.edu	37	X	23704416	23704416	+	Silent	SNP	A	A	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chrX:23704416A>C	ENST00000379341.4	+	7	905	c.780A>C	c.(778-780)ccA>ccC	p.P260P		NM_006406.1	NP_006397.1	Q13162	PRDX4_HUMAN	peroxiredoxin 4	260					cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity			lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						TCCCAGATCCAGCTGGAAAGC	0.338000													33	13					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56226467	56226467	+	Silent	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:56226467G>A	ENST00000332836.2	-	6	2482	c.2455C>T	c.(2455-2457)Ctg>Ttg	p.L819L		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	819						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)		GCTGCACACAGAGATGCCACT	0.522000													61	87					0	0	1	0	0
MIOS	54468	broad.mit.edu	37	7	7612758	7612758	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr7:7612758C>T	ENST00000340080.4	+	4	1073	c.652C>T	c.(652-654)Caa>Taa	p.Q218*	MIOS_ENST00000405785.1_Nonsense_Mutation_p.Q218*	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	218										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GAATACAAGCCAAAAGATGTT	0.433000													63	48					0	0	1	0	0
ALYREF	10189	broad.mit.edu	37	17	79847110	79847110	+	Silent	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:79847110C>A	ENST00000331204.4	-	3	491	c.465G>T	c.(463-465)cgG>cgT	p.R155R	ALYREF_ENST00000512673.1_5'UTR|ALYREF_ENST00000505490.2_Silent_p.R162R	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	155	Ala/Arg/Gly-rich.|RRM.				intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding										CATCTGCCTTCCGCTCAAAGT	0.572000													17	78					1.15088e-07	1.31775e-07	1	1	0
NCAPD2	9918	broad.mit.edu	37	12	6635322	6635322	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr12:6635322C>T	ENST00000315579.5	+	19	3236	c.2437C>T	c.(2437-2439)Cag>Tag	p.Q813*	NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Nonsense_Mutation_p.Q768*	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	813					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						CAGGCTGGCCCAGCAGGTGTG	0.522000													16	33					0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58923522	58923522	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr14:58923522G>T	ENST00000423743.3	+	11	1482	c.1224G>T	c.(1222-1224)atG>atT	p.M408I	KIAA0586_ENST00000556134.1_Missense_Mutation_p.M437I|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.M505I|KIAA0586_ENST00000261244.5_Missense_Mutation_p.M452I	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	446										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAAATAGCATGGTCCAGGTAA	0.333000													3	11					0.115264	0.115939	1	1	0
KIAA0586	9786	broad.mit.edu	37	14	58923521	58923521	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr14:58923521T>A	ENST00000423743.3	+	11	1481	c.1223T>A	c.(1222-1224)aTg>aAg	p.M408K	KIAA0586_ENST00000556134.1_Missense_Mutation_p.M437K|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.M505K|KIAA0586_ENST00000261244.5_Missense_Mutation_p.M452K	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	446										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACAAATAGCATGGTCCAGGTA	0.333000													3	12					0	0	1	0	0
ATPAF2	91647	broad.mit.edu	37	17	17921932	17921932	+	Silent	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:17921932G>A	ENST00000474627.3	-	8	955	c.801C>T	c.(799-801)gcC>gcT	p.A267A	ATPAF2_ENST00000585101.1_Intron	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	267					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					GGGTGCCGGCGGCGGTGCGGG	0.597000													31	103					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1774289	1774289	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr8:1774289G>C	ENST00000518288.1	+	2	176	c.13G>C	c.(13-15)Gga>Cga	p.G5R	ARHGEF10_ENST00000520359.1_Intron|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.G5R|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.G5R|ARHGEF10_ENST00000349830.3_Intron|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.G5R			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	5					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GAGACCTCCAGGATTTCTCAG	0.393000													10	11					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39801548	39801548	+	Silent	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:39801548G>T	ENST00000564288.1	+	37	10065	c.9288G>T	c.(9286-9288)ggG>ggT	p.G3096G	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Silent_p.G1536G|MACF1_ENST00000567887.1_Silent_p.G3133G|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Silent_p.G3101G			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3101					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	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)			TTGCCTGTGGGGCCCAGAGTG	0.438000													31	62					4.40665e-25	6.59557e-25	1	1	0
ZNF804A	91752	broad.mit.edu	37	2	185801281	185801281	+	Silent	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:185801281C>A	ENST00000302277.6	+	4	1752	c.1158C>A	c.(1156-1158)tcC>tcA	p.S386S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	386						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						ACGAGGCATCCACAACTGAGG	0.363000													20	87					3.51602e-12	4.39982e-12	1	1	0
TRUB1	142940	broad.mit.edu	37	10	116731952	116731952	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr10:116731952G>A	ENST00000298746.3	+	6	716	c.655G>A	c.(655-657)Gtc>Atc	p.V219I		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	219					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		GAGAGGTGAAGTCGTAGAAGC	0.408000													34	76					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161134115	161134115	+	Missense_Mutation	SNP	C	C	G	rs143256245	byFrequency	TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:161134115C>G	ENST00000308192.9	+	5	568	c.505C>G	c.(505-507)Cca>Gca	p.P169A	PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	169	Kringle 1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TACTACTGATCCAGAAAAGAG	0.468000													85	125					0	0	1	0	0
HSPH1	10808	broad.mit.edu	37	13	31713031	31713031	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr13:31713031C>T	ENST00000320027.5	-	16	2439	c.2095G>A	c.(2095-2097)Ggc>Agc	p.G699S	HSPH1_ENST00000445273.2_Missense_Mutation_p.G701S|HSPH1_ENST00000380405.4_Missense_Mutation_p.G655S|HSPH1_ENST00000429785.2_Missense_Mutation_p.G518S|HSPH1_ENST00000380406.5_Missense_Mutation_p.G658S	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	699					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		ACTGGAGTGCCAATTTTCtaa	0.343000													48	46					0	0	1	0	0
FXR2	9513	broad.mit.edu	37	17	7499145	7499145	+	Silent	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:7499145C>A	ENST00000250113.7	-	8	1162	c.828G>T	c.(826-828)ggG>ggT	p.G276G		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	276						cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TGCTGACCTCCCCATAGATGC	0.532000													24	18					5.45024e-15	7.21448e-15	1	1	0
TOP3A	7156	broad.mit.edu	37	17	18205677	18205677	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:18205677T>C	ENST00000321105.5	-	7	929	c.715A>G	c.(715-717)Atc>Gtc	p.I239V	TOP3A_ENST00000542570.1_Missense_Mutation_p.I144V	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	239					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CCGTAACTGATGAGCTGCTCT	0.522000													19	41					0	0	1	0	0
PNKP	11284	broad.mit.edu	37	19	50364715	50364715	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:50364715T>C	ENST00000322344.3	-	16	1548	c.1439A>G	c.(1438-1440)tAt>tGt	p.Y480C	PNKP_ENST00000600910.1_Silent_p.V443V|PNKP_ENST00000596014.1_Missense_Mutation_p.Y480C|PNKP_ENST00000600573.1_Missense_Mutation_p.Y449C	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	480					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		CCTGTAGCCATACATGACCAT	0.607000								Other BER factors					20	78					0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21212741	21212741	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr16:21212741G>A	ENST00000574002.1	-	15	2125	c.1643C>T	c.(1642-1644)aCg>aTg	p.T548M	ZP2_ENST00000219593.4_Missense_Mutation_p.T548M|ZP2_ENST00000574091.1_Missense_Mutation_p.T539M|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	548	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CATGGTGGACGTCGCCCAGCA	0.502000													44	120					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42328923	42328923	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr17:42328923C>T	ENST00000262418.6	-	18	2500	c.2345G>A	c.(2344-2346)cGc>cAc	p.R782H		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	782	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.R782L(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CAGGGGGATGCGGGACAGGAT	0.632000													15	57					0	0	1	0	0
RBM43	375287	broad.mit.edu	37	2	152112178	152112178	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:152112178C>G	ENST00000331426.5	-	2	234	c.83G>C	c.(82-84)aGt>aCt	p.S28T		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	28	RRM.						nucleotide binding|RNA binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TAATTGATCACTAAAAAGGTC	0.423000													45	128					0	0	1	0	0
C11orf84	144097	broad.mit.edu	37	11	63586454	63586454	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:63586454G>T	ENST00000294244.4	+	5	1213	c.914G>T	c.(913-915)cGg>cTg	p.R305L		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	305										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						GGCCTTCCCCGGGCGGAGAGC	0.652000													46	34					4.14194e-30	6.3944e-30	1	1	0
NFRKB	4798	broad.mit.edu	37	11	129739829	129739829	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:129739829C>A	ENST00000446488.3	-	23	3194	c.3091G>T	c.(3091-3093)Gcc>Tcc	p.A1031S	NFRKB_ENST00000524794.1_Missense_Mutation_p.A1056S|NFRKB_ENST00000304521.5_Missense_Mutation_p.A1031S|NFRKB_ENST00000524746.1_Missense_Mutation_p.A1031S	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1031					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GATGAAGGGGCACTGGCTGAA	0.537000													20	70					8.00594e-06	8.80013e-06	1	1	0
DEFB110	245913	broad.mit.edu	37	6	49976889	49976889	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:49976889C>A	ENST00000393660.2	-	2	150	c.151G>T	c.(151-153)Gga>Tga	p.G51*		NM_001037728.2	NP_001032817.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	54					defense response to bacterium	extracellular region				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					ATGCAGTATCCATAATCATAC	0.363000													25	75					2.79863e-10	3.36718e-10	1	1	0
AEBP1	165	broad.mit.edu	37	7	44146464	44146464	+	Silent	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr7:44146464C>T	ENST00000223357.3	+	2	878	c.573C>T	c.(571-573)ccC>ccT	p.P191P		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	191	Pro-rich.				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GCCCTGGCCCCGAGGAGCTAC	0.687000													3	12					0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149885107	149885107	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:149885107C>A	ENST00000369146.3	-	2	776	c.286G>T	c.(286-288)Ggg>Tgg	p.G96W	SV2A_ENST00000369145.1_Missense_Mutation_p.G96W	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	96					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TGATATTCCCCTTCATAGATC	0.587000													45	119					1.51926e-22	2.21598e-22	1	1	0
MMP25	64386	broad.mit.edu	37	16	3100489	3100489	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr16:3100489C>G	ENST00000336577.4	+	4	840	c.603C>G	c.(601-603)caC>caG	p.H201Q	MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	201					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CTGGGGAGCACCCCATCTCCG	0.577000													26	63					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20344477	20344477	+	Silent	SNP	C	C	A			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr14:20344477C>A	ENST00000298642.2	+	1	87	c.51C>A	c.(49-51)ctC>ctA	p.L17L		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	17					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)		TGCTGGGGCTCTCTAATTCCT	0.378000													96	359					1.49228e-48	2.47036e-48	1	1	0
CDH12	1010	broad.mit.edu	37	5	21755738	21755738	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr5:21755738G>T	ENST00000382254.1	-	14	2933	c.1847C>A	c.(1846-1848)gCg>gAg	p.A616E	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.A616E|CDH12_ENST00000522262.1_Missense_Mutation_p.A576E	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	616					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TGCAATCAACGCCCCAGTGCT	0.383000										HNSCC(59;0.17)			46	68					1.00953e-15	1.35194e-15	1	1	0
C12orf40	283461	broad.mit.edu	37	12	40114818	40114818	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr12:40114818A>T	ENST00000324616.5	+	13	1878	c.1724A>T	c.(1723-1725)cAc>cTc	p.H575L		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	575										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AATTCAGCCCACATTTTGCAA	0.378000													39	74					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11727540	11727540	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:11727540C>T	ENST00000263834.5	+	10	1619	c.1192C>T	c.(1192-1194)Ctt>Ttt	p.L398F	GREB1_ENST00000381483.2_Intron|GREB1_ENST00000381486.2_Intron|GREB1_ENST00000234142.5_Intron	NM_148903.2	NP_683701.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	0						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		aatggtagcccttggtccggc	0.488000													28	60					0	0	1	0	0
CRYAB	1410	broad.mit.edu	37	11	111780950	111780950	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:111780950G>T	ENST00000533971.1	-	2	516	c.425C>A	c.(424-426)cCa>cAa	p.P142Q	CRYAB_ENST00000533280.1_Intron|CRYAB_ENST00000227251.3_Intron|CRYAB_ENST00000533475.1_Intron|CRYAB_ENST00000526180.1_Intron|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000525823.1_Intron|CRYAB_ENST00000531198.1_Intron			P02511	CRYAB_HUMAN	crystallin, alpha B	0					anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		GTTATGGCTTGGGACTGGAAT	0.418000													6	12					1.5842e-08	1.83842e-08	1	1	0
BIRC3	330	broad.mit.edu	37	11	102196277	102196277	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:102196277C>T	ENST00000263464.3	+	3	3684	c.934C>T	c.(934-936)Cat>Tat	p.H312Y	BIRC3_ENST00000532808.1_Missense_Mutation_p.H312Y	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	312					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		ATGGGTTCAACATGCCAAGTG	0.368000			T	MALT1	MALT								80	191					0	0	1	0	0
TP73	7161	broad.mit.edu	37	1	3624157	3624177	+	In_Frame_Del	DEL	CCGCGCGGCCTCGGCCAGCCC	CCGCGCGGCCTCGGCCAGCCC	-	rs145607711		TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:3624157_3624177delCCGCGCGGCCTCGGCCAGCCC	ENST00000378295.4	+	4	386_406	c.231_251delCCGCGCGGCCTCGGCCAGCCC	c.(229-252)agc>ag	p.SRAASASP77del	TP73_ENST00000378290.4_In_Frame_Del_p.SRAASASP6del|TP73_ENST00000357733.3_In_Frame_Del_p.SRAASASP77del|TP73_ENST00000604479.1_In_Frame_Del_p.SRAASASP77del|TP73_ENST00000604074.1_In_Frame_Del_p.SRAASASP77del|TP73_ENST00000603362.1_In_Frame_Del_p.SRAASASP77del|TP73_ENST00000378280.1_In_Frame_Del_p.SRAASASP28del|TP73_ENST00000354437.4_In_Frame_Del_p.SRAASASP77del|TP73_ENST00000378285.1_In_Frame_Del_p.SRAASASP28del|TP73_ENST00000346387.4_In_Frame_Del_p.SRAASASP77del|TP73_ENST00000378288.4_In_Frame_Del_p.SRAASASP28del	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	77					cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		AGATGAGCAGCCGCGCGGCCTCGGCCAGCCCCTACACCCCA	0.674													26	109	---	---	---	---					
AJAP1	55966	broad.mit.edu	37	1	4772157	4772157	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:4772157delC	ENST00000378191.4	+	2	608	c.227delC	c.(226-228)gcfs	p.A76fs	AJAP1_ENST00000466761.1_3'UTR|AJAP1_ENST00000378190.3_Frame_Shift_Del_p.A76fs	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	76					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CGGGTCCCGGCCCCGGTGTGG	0.776													14	40	---	---	---	---					
IL22RA1	58985	broad.mit.edu	37	1	24447567	24447567	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:24447567delC	ENST00000270800.1	-	7	1491	c.1453delG	c.(1453-1455)agfs	p.E486fs		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	486						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		GTCCCTTCCTCCCCACTGTGT	0.567													44	114	---	---	---	---					
CSMD2	114784	broad.mit.edu	37	1	34401376	34401376	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:34401376delG	ENST00000373381.4	-	4	873	c.697delC	c.(697-699)tgfs	p.L233fs		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	193	CUB 2.					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)				CAGGAAGGCAGGGGGAAGTCC	0.627													19	51	---	---	---	---					
LRRC7	57554	broad.mit.edu	37	1	70505265	70505265	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:70505265delC	ENST00000310961.5	+	22	4077	c.3659delC	c.(3658-3660)acfs	p.T1220fs	LRRC7_ENST00000035383.5_Frame_Shift_Del_p.T1215fs|LRRC7_ENST00000415775.2_Frame_Shift_Del_p.T499fs			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1215						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GCCTCCCAAACCAGGCCAGTT	0.468													19	59	---	---	---	---					
RP11-423O2.5	0	broad.mit.edu	37	1	142803276	142803278	+	RNA	DEL	AAC	AAC	-			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr1:142803276_142803278delAAC	ENST00000423385.1	-	0	1687_1689																											ACCAAACCAAaacaacaacaaca	0.345													3	6	---	---	---	---					
OTOF	9381	broad.mit.edu	37	2	26697466	26697466	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:26697466delC	ENST00000272371.2	-	26	3329	c.3203delG	c.(3202-3204)ccfs	p.R1068fs	OTOF_ENST00000339598.3_Frame_Shift_Del_p.R321fs|OTOF_ENST00000403946.3_Frame_Shift_Del_p.R1068fs|OTOF_ENST00000402415.3_Frame_Shift_Del_p.R378fs|OTOF_ENST00000338581.6_Frame_Shift_Del_p.R321fs	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1068					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)					AGGTGGGAAGCGGGGTGGGCA	0.622													13	30	---	---	---	---					
LOC101927533	101927533	broad.mit.edu	37	2	65738862	65738863	+	RNA	DEL	TG	TG	-			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:65738862_65738863delTG	ENST00000377977.3	+	0	862																											TTTTTTTTTTTGTCCAGGAGGC	0.302													4	4	---	---	---	---					
LOC101927533	101927533	broad.mit.edu	37	2	65894933	65894933	+	RNA	DEL	A	A	-			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:65894933delA	ENST00000377977.3	+	0	862																											TCAGAGGTTTAAAAAAAAAAA	0.517													3	3	---	---	---	---					
ZEB2	9839	broad.mit.edu	37	2	145156076	145156076	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:145156076delG	ENST00000558170.2	-	8	3862	c.2678delC	c.(2677-2679)ctfs	p.P893fs	ZEB2_ENST00000539609.3_Frame_Shift_Del_p.P869fs|ZEB2_ENST00000409487.3_Frame_Shift_Del_p.P893fs|ZEB2_ENST00000303660.4_Frame_Shift_Del_p.P893fs	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	893						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)		TGTGTATAAAGGTTTGGCACT	0.443													58	231	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179586787	179586787	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:179586787delC	ENST00000589042.1	-	78	22827	c.22603delG	c.(22603-22605)agfs	p.E7535fs	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.E6291fs|TTN_ENST00000591111.1_Frame_Shift_Del_p.E7218fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7218	Ig-like 57.						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)			ACATGACACTCAAAATCAGCA	0.423													74	241	---	---	---	---					
ZSWIM2	151112	broad.mit.edu	37	2	187692933	187692933	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:187692933delG	ENST00000295131.2	-	9	1719	c.1680delC	c.(1678-1680)gcfs	p.A560fs		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	560					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TTATTTTAGTGGCAGGAGTCT	0.383													47	71	---	---	---	---					
TTLL4	9654	broad.mit.edu	37	2	219609919	219609920	+	Frame_Shift_Ins	INS	-	-	C	rs114873637	by1000genomes	TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr2:219609919_219609920insC	ENST00000392102.1	+	6	2089_2090	c.1749_1750insC	c.(1747-1752)gtccccfs	p.VP583fs	TTLL4_ENST00000442769.1_Frame_Shift_Ins_p.VP583fs|TTLL4_ENST00000457313.1_Frame_Shift_Ins_p.VP418fs|TTLL4_ENST00000258398.4_Frame_Shift_Ins_p.VP583fs	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	583					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TTCCCAACGTTCCCCCTACCAT	0.495													57	170	---	---	---	---					
IP6K2	51447	broad.mit.edu	37	3	48726095	48726096	+	Frame_Shift_Ins	INS	-	-	C	rs138795713	byFrequency	TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:48726095_48726096insC	ENST00000328631.5	-	6	1114_1115	c.891_892insG	c.(889-894)cgacctfs	p.P298fs		NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	298					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						CGGCGCAGGTACCGCCCATTGT	0.564													14	72	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195711343	195711344	+	RNA	INS	-	-	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr3:195711343_195711344insT	ENST00000427841.1	-	0	585					NR_003264.2																						AAAGACTTCTCTGTGAGCTTTG	0.381													4	7	---	---	---	---					
LOC101927237	101927237	broad.mit.edu	37	4	68312247	68312247	+	RNA	DEL	C	C	-			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr4:68312247delC	ENST00000502400.1	-	0	34																											AAGGAGAATACCCTCCAGGAA	0.338													42	36	---	---	---	---					
KIAA1109	84162	broad.mit.edu	37	4	123151275	123151275	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr4:123151275delA	ENST00000264501.4	+	26	3605	c.3232delA	c.(3232-3234)ttfs	p.I1078fs	KIAA1109_ENST00000388738.3_Frame_Shift_Del_p.I1078fs|KIAA1109_ENST00000455637.1_Frame_Shift_Del_p.I1078fs|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	1078					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTTAGGACTTATTACTGTTGA	0.413													75	41	---	---	---	---					
HCN1	348980	broad.mit.edu	37	5	45695987	45695995	+	In_Frame_Del	DEL	CCGCCGCCA	CCGCCGCCA	-	rs56064803	byFrequency	TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr5:45695987_45695995delCCGCCGCCA	ENST00000303230.4	-	1	258_266	c.201_209delTGGCGGCGG	c.(199-210)ggc>gg	p.GGGG71del		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	71	Gly-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.G72_G74delGGG(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						gccgccgccgccgccgccaccgccgccac	0.770													10	11	---	---	---	---					
ARID1B	57492	broad.mit.edu	37	6	157528039	157528046	+	Frame_Shift_Del	DEL	GAGCCCAG	GAGCCCAG	-			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr6:157528039_157528046delGAGCCCAG	ENST00000346085.5	+	20	5765_5772	c.5764_5771delGAGCCCAG	c.(5764-5772)gfs	p.EPR1922fs	ARID1B_ENST00000367148.1_Frame_Shift_Del_p.EPR1962fs|ARID1B_ENST00000350026.5_Frame_Shift_Del_p.EPR1909fs|ARID1B_ENST00000275248.4_Frame_Shift_Del_p.EPR1904fs	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1909					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GCTGGAGGACGAGCCCAGGAGCCGAGAC	0.558													60	111	---	---	---	---					
INTS4P2	644619	broad.mit.edu	37	7	65150816	65150816	+	RNA	DEL	A	A	-			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr7:65150816delA	ENST00000430126.2	+	0	757																											TTCATCCCTCACCCCCCCCCC	0.463													7	25	---	---	---	---					
RP1L1	94137	broad.mit.edu	37	8	10470429	10470429	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr8:10470429delT	ENST00000382483.3	-	4	1402	c.1179delA	c.(1177-1179)gafs	p.E393fs		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	393					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGCCAAAGACTTCCCTGCATC	0.657													53	69	---	---	---	---					
OR51A7	119687	broad.mit.edu	37	11	4929379	4929379	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:4929379delG	ENST00000359350.4	+	1	780	c.780delG	c.(778-780)atfs	p.M260fs	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		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)		TGGCTGCCATGCATCACTTTG	0.488													98	306	---	---	---	---					
C11orf24	53838	broad.mit.edu	37	11	68029605	68029605	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr11:68029605delG	ENST00000304271.6	-	4	1260	c.858delC	c.(856-858)ccfs	p.P286fs	C11orf24_ENST00000533310.1_Intron	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	286	Pro-rich.					integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						CTGTGGGGGTGGGGGCGGGCT	0.592													11	48	---	---	---	---					
KRT82	3888	broad.mit.edu	37	12	52795114	52795114	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr12:52795114delG	ENST00000257974.2	-	3	717	c.640delC	c.(640-642)tgfs	p.L214fs	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	214	Coil 1B.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CAGGGACGCAGGGAGAGCTCC	0.537													26	69	---	---	---	---					
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr12:122812690_122812691insT	ENST00000358808.2	-	16	3173_3174	c.3019_3020insA	c.(3019-3021)ccafs	p.P1007fs	CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505													9	222	---	---	---	---					
KIAA0391	9692	broad.mit.edu	37	14	35736032	35736032	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr14:35736032delG	ENST00000557565.1	+	6	1756	c.1375delG	c.(1375-1377)agfs	p.E459fs	KIAA0391_ENST00000603544.1_Frame_Shift_Del_p.E443fs|KIAA0391_ENST00000321130.10_Frame_Shift_Del_p.E443fs|KIAA0391_ENST00000250377.7_Frame_Shift_Del_p.E364fs|KIAA0391_ENST00000534898.4_Frame_Shift_Del_p.E459fs|KIAA0391_ENST00000604948.1_Frame_Shift_Del_p.E364fs|KIAA0391_ENST00000605870.1_Frame_Shift_Del_p.E87fs			O15091	MRRP3_HUMAN	KIAA0391	459					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		GAGTCGGGATGAGATGGAAGA	0.483													46	139	---	---	---	---					
MLH3	27030	broad.mit.edu	37	14	75485568	75485570	+	In_Frame_Del	DEL	CGG	CGG	-	rs34314385		TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr14:75485568_75485570delCGG	ENST00000355774.2	-	12	4419_4421	c.4204_4206delCCG	c.(4204-4206)del	p.P1402del	MLH3_ENST00000380968.2_In_Frame_Del_p.P340del|MLH3_ENST00000238662.7_In_Frame_Del_p.P1378del|MLH3_ENST00000556740.1_In_Frame_Del_p.P1402del|MLH3_ENST00000556257.1_In_Frame_Del_p.P1224del	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	1402					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	p.P1378R(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TGTCAGCTAACGGCAGCATAGAA	0.463								Mismatch excision repair (MMR)					10	138	---	---	---	---					
FMN1	342184	broad.mit.edu	37	15	33256309	33256310	+	Splice_Site	DEL	TT	TT	-			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr15:33256309_33256310delTT	ENST00000334528.9	-	5	2466_2467	c.2469_splice	c.e5+1	p.K823_splice	FMN1_ENST00000561249.1_Splice_Site_p.K948_splice|FMN1_ENST00000559047.1_Splice_Site_p.K1046_splice	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	1046	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		ACTCAGTACCTTTTTGACCTTG	0.366													19	69	---	---	---	---					
RP11-166B2.1	0	broad.mit.edu	37	16	12021340	12021341	+	In_Frame_Ins	INS	-	-	TGG			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr16:12021340_12021341insTGG	ENST00000399147.4	-	8	1082_1083	c.1083_1084insCCA	c.(1081-1086)gacacc>gaCCAcacc	p.361_362DT>DHT																	lung(2)	2						TCGGGTGGTGATTCCACCTCAG	0.609													2	4	---	---	---	---					
RRN3P1	730092	broad.mit.edu	37	16	21817398	21817399	+	RNA	INS	-	-	A	rs144931984	by1000genomes	TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr16:21817398_21817399insA	ENST00000546471.1	-	0	1607																											TAAATGaaaataaaaaaataaa	0.302													3	4	---	---	---	---					
ZNF729	100287226	broad.mit.edu	37	19	22499631	22499631	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:22499631delG	ENST00000601693.1	+	4	3530	c.3412delG	c.(3412-3414)gcfs	p.G1138fs	ZNF729_ENST00000357491.6_Frame_Shift_Del_p.G1110fs					zinc finger protein 729											breast(5)|central_nervous_system(1)|lung(32)|ovary(3)	41						TGAAGAATGTGGCAAAGCCTT	0.378													10	126	---	---	---	---					
TSKS	60385	broad.mit.edu	37	19	50243361	50243362	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr19:50243361_50243362insC	ENST00000246801.3	-	10	1658_1659	c.1576_1577insG	c.(1576-1578)cctfs	p.P526fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.P326fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	526							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GGCCCGCAGGGCCTCGTCTTGG	0.634													8	222	---	---	---	---					
MAP1LC3A	84557	broad.mit.edu	37	20	33147533	33147556	+	Splice_Site	DEL	GCTGCAGGCGCCGCCTGCAGCTGA	GCTGCAGGCGCCGCCTGCAGCTGA	-	rs6120679		TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr20:33147533_33147556delGCTGCAGGCGCCGCCTGCAGCTGA	ENST00000360668.3	+	4	964_981	c.203_splice	c.e4-1	p.Q68_splice	MAP1LC3A_ENST00000374837.3_Splice_Site_p.Q72_splice|MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000397709.1_Splice_Site_p.Q68_splice			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	68					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding	p.R73H(1)|p.R74C(1)		cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						TCTCCCGCCGGCTGCAGGCGCCGCCTGCAGCTGAACCCCACGCA	0.629													15	194	---	---	---	---					
LINC00162	378825	broad.mit.edu	37	21	46421847	46421852	+	RNA	DEL	CAGCCC	CAGCCC	-	rs881968	by1000genomes	TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chr21:46421847_46421852delCAGCCC	ENST00000422199.1	-	0	284					NR_024089.1																						ACGACTGTGTCAgcccctgcccctgc	0.665													2	4	---	---	---	---					
KCND1	3750	broad.mit.edu	37	X	48826302	48826303	+	Frame_Shift_Ins	INS	-	-	A	rs143344385		TCGA-55-8620-01A-11D-2393-08	TCGA-55-8620-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e943b4bc-28eb-4b2c-b985-7109b3166c4e	7f3eeb3e-4c2e-46f4-ab29-7e060c926b56	g.chrX:48826302_48826303insA	ENST00000218176.3	-	1	1673_1674	c.376_377insT	c.(376-378)gctfs	p.A126fs		NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	126						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						ACCGACTAGCTCGGGAACCAGG	0.624													9	6	---	---	---	---