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
MXRA5	25878	broad.mit.edu	37	X	3238689	3238689	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chrX:3238689G>A	ENST00000217939.6	-	5	5191	c.5037C>T	c.(5035-5037)tcC>tcT	p.S1679S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1679						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)				TGCTGGGTTTGGACATGTGCA	0.418000													69	63					0	0	0.014410	0	0
LAMB4	22798	broad.mit.edu	37	7	107703417	107703417	+	Silent	SNP	G	G	A	rs151001135	by1000genomes	TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:107703417G>A	ENST00000388781.3	-	23	3167	c.3084C>T	c.(3082-3084)ggC>ggT	p.G1028G	LAMB4_ENST00000205386.4_Silent_p.G1028G|LAMB4_ENST00000388780.3_Silent_p.G1028G	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1028	Laminin EGF-like 11.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGGGACTCACGCCGGAAGCAT	0.517000													14	22					0	0	0.004007	0	0
NPC1L1	29881	broad.mit.edu	37	7	44574088	44574088	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:44574088G>A	ENST00000289547.4	-	6	2179	c.2124C>T	c.(2122-2124)tcC>tcT	p.S708S	NPC1L1_ENST00000423141.1_Silent_p.S708S|NPC1L1_ENST00000381160.3_Silent_p.S708S|NPC1L1_ENST00000546276.1_Silent_p.S708S	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	708	SSD.				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	p.S708S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CAGCCCCCACGGACAGCACCA	0.562000											OREG0018038	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	80					0	0	0.006320	0	0
DCAF13	25879	broad.mit.edu	37	8	104427556	104427556	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr8:104427556C>T	ENST00000297579.5	+	1	615	c.338C>T	c.(337-339)tCc>tTc	p.S113F		NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	0					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GGCCGCCGCTCCGCGAGTCAC	0.637000													21	74					0	0	0.014323	0	0
SELE	6401	broad.mit.edu	37	1	169695858	169695858	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:169695858G>A	ENST00000333360.7	-	11	1874	c.1735C>T	c.(1735-1737)Cgg>Tgg	p.R579W	SELE_ENST00000367779.4_Missense_Mutation_p.R453W|SELE_ENST00000367782.4_Missense_Mutation_p.R516W|SELE_ENST00000367777.1_Missense_Mutation_p.R516W|SELE_ENST00000367776.1_Missense_Mutation_p.R516W|SELE_ENST00000367775.1_Missense_Mutation_p.R454W|SELE_ENST00000367774.1_Missense_Mutation_p.R453W|SELE_ENST00000367781.4_Missense_Mutation_p.R516W|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.R454W	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	579					actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					AAGCATTTCCGAAGCCAGAGG	0.418000													7	48					0	0	0.003080	0	0
C6orf15	29113	broad.mit.edu	37	6	31079719	31079719	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:31079719G>A	ENST00000259870.3	-	2	420	c.417C>T	c.(415-417)tcC>tcT	p.S139S		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	139										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						CCGCAGCACTGGAGAGGTAAG	0.642000													15	57					0	0	0.004990	0	0
SHBG	6462	broad.mit.edu	37	17	7535262	7535262	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:7535262G>A	ENST00000380450.4	+	6	812	c.781G>A	c.(781-783)Ggc>Agc	p.G261S	SHBG_ENST00000570547.1_Intron|SHBG_ENST00000416273.3_Missense_Mutation_p.G261S|SHBG_ENST00000575314.1_Missense_Mutation_p.G203S|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000576728.1_Missense_Mutation_p.G149S|SHBG_ENST00000441599.2_Intron|SHBG_ENST00000572262.1_Missense_Mutation_p.G149S|SHBG_ENST00000574539.1_Missense_Mutation_p.G203S|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000340624.5_Missense_Mutation_p.G203S|SHBG_ENST00000575903.1_Missense_Mutation_p.G243S	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	261	Laminin G-like 2.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	GCAGGCAGCAGGCTCAGGCCA	0.567000													45	180					0	0	0.014410	0	0
KCNQ3	3786	broad.mit.edu	37	8	133192441	133192441	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr8:133192441C>T	ENST00000388996.4	-	4	1160	c.740G>A	c.(739-741)tGg>tAg	p.W247*	KCNQ3_ENST00000519445.1_Nonsense_Mutation_p.W247*|KCNQ3_ENST00000521134.1_Nonsense_Mutation_p.W127*	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	247					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.W247*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CAGAAGCTTCCAGGTGCCACC	0.597000													17	81					0	0	0.006122	0	0
WFDC8	90199	broad.mit.edu	37	20	44181907	44181907	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr20:44181907C>T	ENST00000357199.4	-	5	532	c.454G>A	c.(454-456)Gga>Aga	p.G152R	WFDC8_ENST00000289953.2_Missense_Mutation_p.G152R	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	152	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				GGGCATTGTCCATCCTTAACT	0.468000													7	30					0	0	0.004482	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430723	37430723	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr10:37430723G>A	ENST00000374660.1	+	7	829	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E244K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E244K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	300						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.E244K(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAGCTTGGTGGAAAAAACACC	0.507000													17	21					0	0	0.004007	0	0
ZNF438	220929	broad.mit.edu	37	10	31138347	31138347	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr10:31138347T>C	ENST00000538351.1	-	7	1594	c.840A>G	c.(838-840)atA>atG	p.I280M	ZNF438_ENST00000444692.2_Missense_Mutation_p.I319M|ZNF438_ENST00000452305.1_Missense_Mutation_p.I319M|ZNF438_ENST00000375311.1_De_novo_Start_InFrame|ZNF438_ENST00000361310.3_Missense_Mutation_p.I329M|ZNF438_ENST00000436087.2_Missense_Mutation_p.I329M|ZNF438_ENST00000331737.6_Missense_Mutation_p.I319M|ZNF438_ENST00000413025.1_Missense_Mutation_p.I329M|ZNF438_ENST00000442986.1_Missense_Mutation_p.I329M	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TGGTGGAGGGTATCTTATCAC	0.463000													21	25					0	0	0.010504	0	0
MAP2K1	5604	broad.mit.edu	37	15	66774131	66774131	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr15:66774131G>A	ENST00000307102.5	+	6	1138	c.607G>A	c.(607-609)Gag>Aag	p.E203K	MAP2K1_ENST00000566326.1_Missense_Mutation_p.E27K	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	203	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E203K(4)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						CTCCCGTGGGGAGATCAAGCT	0.522000													17	56					0	0	0.004990	0	0
SLC44A5	204962	broad.mit.edu	37	1	75707690	75707690	+	Silent	SNP	T	T	C			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:75707690T>C	ENST00000370855.5	-	9	641	c.528A>G	c.(526-528)aaA>aaG	p.K176K	SLC44A5_ENST00000370859.3_Silent_p.K176K|SLC44A5_ENST00000535611.1_Silent_p.K46K	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	176						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						ACTTACAAGGTTTGCTGGGAA	0.378000													18	44					0	0	0.010504	0	0
KIAA1804	84451	broad.mit.edu	37	1	233514709	233514709	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:233514709G>A	ENST00000366624.3	+	9	2218	c.1957G>A	c.(1957-1959)Gga>Aga	p.G653R	MLK4_ENST00000366622.1_Missense_Mutation_p.G99R	NM_032435.2	NP_115811.2																					TTCCCCTGATGGATTAGAACA	0.378000													31	46					0	0	0.003755	0	0
SLC22A16	85413	broad.mit.edu	37	6	110759972	110759972	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:110759972G>A	ENST00000368919.3	-	5	1328	c.1262C>T	c.(1261-1263)tCt>tTt	p.S421F	SLC22A16_ENST00000439654.1_Missense_Mutation_p.S421F|SLC22A16_ENST00000330550.4_Missense_Mutation_p.S387F	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	421					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GCAGAAAAGAGAGTAGGCCAG	0.498000													16	52					0	0	0.004990	0	0
SH3TC2	79628	broad.mit.edu	37	5	148384390	148384390	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr5:148384390C>T	ENST00000515425.1	-	17	3852	c.3751G>A	c.(3751-3753)Gac>Aac	p.D1251N	SH3TC2_ENST00000502274.1_Missense_Mutation_p.D113N|SH3TC2_ENST00000538184.1_3'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.D1244N	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1251							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAATGGTGTCCTGAAGCTCC	0.632000													19	38					0	0	0.007413	0	0
SCN1A	6323	broad.mit.edu	37	2	166892848	166892848	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:166892848C>T	ENST00000423058.2	-	16	3156	c.3139G>A	c.(3139-3141)Gaa>Aaa	p.E1047K	AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.E1047K|SCN1A_ENST00000409050.1_Missense_Mutation_p.E1019K|SCN1A_ENST00000375405.3_Missense_Mutation_p.E1036K	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1047						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGTTTAATTTCATCTAAAATC	0.308000													13	25					0	0	0.013537	0	0
ASB15	142685	broad.mit.edu	37	7	123269101	123269101	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:123269101G>C	ENST00000451558.1	+	12	1574	c.1053G>C	c.(1051-1053)aaG>aaC	p.K351N	ASB15_ENST00000451215.1_Missense_Mutation_p.K351N|ASB15_ENST00000434204.1_Missense_Mutation_p.K351N|ASB15_ENST00000275699.3_Missense_Mutation_p.K351N|ASB15_ENST00000540573.1_Missense_Mutation_p.K351N			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	351					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						ATGAGAGGAAGACTGCGCTGT	0.448000													22	67					0	0	0.002780	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6051554	6051554	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr4:6051554C>T	ENST00000409021.3	-	15	2403	c.1954G>A	c.(1954-1956)Gat>Aat	p.D652N	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.D467N	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	425					protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCCCGTTATCGCCAAGGATA	0.378000													11	30					0	0	0.010729	0	0
TBX21	30009	broad.mit.edu	37	17	45822322	45822322	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:45822322C>T	ENST00000177694.1	+	6	1409	c.1198C>T	c.(1198-1200)Cga>Tga	p.R400*		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	400					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.R400*(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						GGCTGAGTTTCGAGCAGTCAG	0.652000													26	76					0	0	0.004656	0	0
PTPRT	11122	broad.mit.edu	37	20	40979339	40979339	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr20:40979339G>A	ENST00000373198.3	-	11	2029	c.1794C>T	c.(1792-1794)acC>acT	p.T598T	PTPRT_ENST00000373184.1_Silent_p.T598T|PTPRT_ENST00000373187.1_Silent_p.T598T|PTPRT_ENST00000373190.1_Silent_p.T598T|PTPRT_ENST00000356100.2_Silent_p.T598T|PTPRT_ENST00000373201.1_Silent_p.T598T|PTPRT_ENST00000373193.3_Silent_p.T598T	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	598	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CATTCAATGGGGTGTCTGTGT	0.567000													18	76					0	0	0.004990	0	0
SCN10A	6336	broad.mit.edu	37	3	38750978	38750978	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr3:38750978C>T	ENST00000449082.2	-	24	4271	c.4272G>A	c.(4270-4272)caG>caA	p.Q1424Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1424					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCTTTTTTTTCTGTTGATTGA	0.413000													13	60					0	0	0.001855	0	0
DNAH7	56171	broad.mit.edu	37	2	196729430	196729430	+	Nonsense_Mutation	SNP	G	G	A	rs115474479	by1000genomes	TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:196729430G>A	ENST00000312428.6	-	41	7049	c.6949C>T	c.(6949-6951)Cga>Tga	p.R2317*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2317	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R2317*(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATGGCAAATCGAAACAAGACA	0.443000													17	61					0	0	0.004007	0	0
LY9	4063	broad.mit.edu	37	1	160788007	160788007	+	Splice_Site	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:160788007G>A	ENST00000263285.5	+	6	1372		c.e6-1		LY9_ENST00000368041.2_Splice_Site|LY9_ENST00000368040.1_Splice_Site|LY9_ENST00000341032.4_Splice_Site|LY9_ENST00000368035.1_Splice_Site	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9						cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCTCCTCAAAGGACCTGAGAG	0.448000													6	45					0	0	0.001168	0	0
COL6A3	1293	broad.mit.edu	37	2	238249666	238249666	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:238249666G>A	ENST00000295550.4	-	38	8345	c.7893C>T	c.(7891-7893)acC>acT	p.T2631T	COL6A3_ENST00000353578.4_Silent_p.T2425T|COL6A3_ENST00000409809.1_Silent_p.T2425T|COL6A3_ENST00000472056.1_Silent_p.T2024T|COL6A3_ENST00000347401.3_Silent_p.T2430T|COL6A3_ENST00000346358.4_Silent_p.T2431T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2631	Nonhelical region.|VWFA 12.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACTGGAACAGGGTGGTGGTCT	0.552000													44	115					0	0	0.010771	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95484639	95484639	+	RNA	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:95484639C>T	ENST00000432432.2	-	0	1295					NR_040113.1																						TGTATTTTTTCACTTTTGTTT	0.279000													9	25					0	0	0.006214	0	0
FOXM1	2305	broad.mit.edu	37	12	2968800	2968800	+	Silent	SNP	A	A	G			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr12:2968800A>G	ENST00000342628.2	-	10	1523	c.1410T>C	c.(1408-1410)ccT>ccC	p.P470P	ITFG2_ENST00000545509.1_3'UTR|FOXM1_ENST00000361953.3_Silent_p.P417P|FOXM1_ENST00000359843.3_Silent_p.P432P	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	432					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CAGAAGAAAGAGGAGCTATCC	0.488000													7	16					0	0	0.001984	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906573	13906573	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr12:13906573G>A	ENST00000279593.3	-	3	897	c.688C>T	c.(688-690)Ctt>Ttt	p.L230F		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	230					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTACAGTAAAGAAGAATGATG	0.512000													12	92					0	0	0.010729	0	0
BRDT	676	broad.mit.edu	37	1	92445135	92445135	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:92445135G>A	ENST00000370389.2	+	8	1813	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000399546.2_Missense_Mutation_p.E370K|BRDT_ENST00000394530.3_Missense_Mutation_p.E324K|BRDT_ENST00000402388.1_Missense_Mutation_p.E370K|BRDT_ENST00000362005.3_Missense_Mutation_p.E370K	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	370	Bromo 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GGATGTTTTCGAAACGCATTT	0.323000													7	23					0	0	0.001984	0	0
MST1R	4486	broad.mit.edu	37	3	49933251	49933251	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr3:49933251G>A	ENST00000296474.3	-	12	2886	c.2859C>T	c.(2857-2859)gtC>gtT	p.V953V	MST1R_ENST00000344206.4_Silent_p.V904V	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	953					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)		TGCTCTGTGGGACCCCATCTG	0.622000													10	48					0	0	0.008291	0	0
LILRA1	11024	broad.mit.edu	37	19	55106174	55106174	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:55106174A>C	ENST00000453777.1	+	4	285	c.115A>C	c.(115-117)Atc>Ctc	p.I39L	LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.I39L|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	39	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		AGGCTCTGTGATCACCCAGGG	0.547000													19	73					0	0	0.006122	0	0
OR5T3	390154	broad.mit.edu	37	11	56020497	56020497	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:56020497C>T	ENST00000303059.3	+	1	822	c.822C>T	c.(820-822)caC>caT	p.H274H		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H274Q(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GTGGCTCTCACCTAACTGGAG	0.408000													26	111					0	0	0.003330	0	0
ADGRG6	57211	broad.mit.edu	37	6	142737023	142737023	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:142737023G>A	ENST00000230173.6	+	20	3236	c.2760G>A	c.(2758-2760)tgG>tgA	p.W920*	GPR126_ENST00000367608.2_Nonsense_Mutation_p.W892*|GPR126_ENST00000296932.8_Nonsense_Mutation_p.W892*|GPR126_ENST00000367609.3_Nonsense_Mutation_p.W920*	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	920					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TAGATGGCTGGATCACCTCCT	0.468000													35	121					0	0	0.013726	0	0
COL8A2	1296	broad.mit.edu	37	1	36564573	36564573	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:36564573C>T	ENST00000397799.1	-	4	933	c.709G>A	c.(709-711)Ggc>Agc	p.G237S	COL8A2_ENST00000303143.4_Missense_Mutation_p.G237S|COL8A2_ENST00000481785.1_Missense_Mutation_p.G172S			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	237	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCAGGTTTGCCTAAGCCAGCT	0.716000													13	27					0	0	0.001855	0	0
BMS1P20	96610	broad.mit.edu	37	22	22661743	22661743	+	RNA	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr22:22661743C>T	ENST00000426066.1	+	0	500					NR_027293.1																						TCATAAAATTCCACTCCTAAG	0.343000													6	3					0	0	0.001984	0	0
MORC1	27136	broad.mit.edu	37	3	108819355	108819355	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr3:108819355C>T	ENST00000232603.5	-	5	306		c.e5-1		MORC1_ENST00000483760.1_Splice_Site	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1						cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GAAGCTTCCTCTGTAATTGAC	0.443000													16	50					0	0	0.003163	0	0
PEG3	5178	broad.mit.edu	37	19	57328594	57328594	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:57328594C>T	ENST00000326441.9	-	10	1579	c.1216G>A	c.(1216-1218)Gat>Aat	p.D406N	PEG3_ENST00000593695.1_Missense_Mutation_p.D280N|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.D406N|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.D282N|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	406					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)		CCTTTTTGATCGTGAATCGAG	0.488000													28	105					0	0	0.007291	0	0
EEF1D	1936	broad.mit.edu	37	8	144671343	144671343	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr8:144671343G>A	ENST00000532741.1	-	1	1287	c.1059C>T	c.(1057-1059)ccC>ccT	p.P353P	EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000423316.2_Silent_p.P303P|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000442189.2_Silent_p.P303P			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	0					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			AGTAACAGTAGGGCAAGGCAG	0.716000													12	37					0	0	0.010729	0	0
SH2D5	400745	broad.mit.edu	37	1	21050225	21050225	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:21050225G>A	ENST00000375031.1	-	7	1174	c.550C>T	c.(550-552)Cct>Tct	p.P184S	SH2D5_ENST00000444387.2_Missense_Mutation_p.P268S|SH2D5_ENST00000460804.1_5'UTR	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	184										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CATGCGGCAGGAACTGTGGAG	0.672000													10	27					0	0	0.006214	0	0
GNPAT	8443	broad.mit.edu	37	1	231402070	231402070	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:231402070C>T	ENST00000366647.4	+	8	1141	c.972C>T	c.(970-972)atC>atT	p.I324I	GNPAT_ENST00000366646.3_Silent_p.I263I	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	324					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTGGAAGCATCCATGTGTACT	0.428000													23	44					0	0	0.002780	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168930	142168930	+	RNA	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:142168930C>T	ENST00000454561.2	-	0	115																											CCTTGATTTTCCTAATAGGAG	0.572000													5	13					0	0	0.000602	0	0
ACTRT1	139741	broad.mit.edu	37	X	127186130	127186130	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chrX:127186130C>T	ENST00000371124.3	-	1	252	c.56G>A	c.(55-57)gGa>gAa	p.G19E		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	19						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TTTGCAGAGTCCTGAACCATT	0.428000													13	14					0	0	0.003163	0	0
DAGLA	747	broad.mit.edu	37	11	61503210	61503210	+	Splice_Site	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:61503210G>A	ENST00000257215.5	+	12	1328		c.e12-1			NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha						cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTCTCCCCAAGGATGCCCTGA	0.677000													4	16					0	0	0.009096	0	0
TMEM102	284114	broad.mit.edu	37	17	7339604	7339604	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:7339604G>A	ENST00000323206.1	+	3	579	c.306G>A	c.(304-306)ggG>ggA	p.G102G	TMEM102_ENST00000396568.1_Silent_p.G102G|RP11-104H15.7_ENST00000575310.1_RNA	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	102					regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding			kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				TGGATCTGGGGCATGCACCCC	0.607000													15	55					0	0	0.003163	0	0
CNGA2	1260	broad.mit.edu	37	X	150912780	150912780	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chrX:150912780G>A	ENST00000329903.4	+	6	1838	c.1805G>A	c.(1804-1806)gGg>gAg	p.G602E		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	602					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAAGCTAGGGCAGCTGGAG	0.582000													36	37					0	0	0.003755	0	0
PTCHD2	57540	broad.mit.edu	37	1	11591711	11591711	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:11591711G>A	ENST00000294484.6	+	17	3457	c.3319G>A	c.(3319-3321)Ggg>Agg	p.G1107R	PTCHD2_ENST00000389575.3_Missense_Mutation_p.G1107R	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1107					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCTGTCCCACGGGGCAGTGGG	0.662000													17	63					0	0	0.004990	0	0
CHMP7	91782	broad.mit.edu	37	8	23117720	23117720	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr8:23117720C>T	ENST00000397677.1	+	10	1832	c.1184C>T	c.(1183-1185)cCt>cTt	p.P395L	CHMP7_ENST00000520102.1_3'UTR|CHMP7_ENST00000313219.7_Missense_Mutation_p.P395L	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	395					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		ACCAAAGAACCTTTGGATCTG	0.438000													16	74					0	0	0.007413	0	0
TC2N	123036	broad.mit.edu	37	14	92251698	92251698	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr14:92251698G>A	ENST00000435962.2	-	11	1493	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	TC2N_ENST00000340892.5_Silent_p.F390F|TC2N_ENST00000360594.5_Silent_p.F390F|TC2N_ENST00000556018.1_Silent_p.F326F	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	390	C2.					nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CCACCTTCACGAAAAAACCTA	0.323000													43	119					0	0	0.008740	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140724182	140724182	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr5:140724182G>A	ENST00000253812.6	+	1	582	c.582G>A	c.(580-582)ctG>ctA	p.L194L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCAGAGCTGGTGCTGGAGC	0.537000													27	49					0	0	0.004656	0	0
PPFIA2	8499	broad.mit.edu	37	12	81688664	81688664	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr12:81688664G>A	ENST00000550584.2	-	23	3170	c.2875C>T	c.(2875-2877)Cag>Tag	p.Q959*	PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.Q526*|PPFIA2_ENST00000541017.1_Nonsense_Mutation_p.Q176*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.Q860*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.Q959*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.Q885*|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.Q944*|PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.Q959*|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.Q806*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.Q959*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.Q944*	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	885										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ACCATCTCCTGGATTGCTAAT	0.473000													5	19					0	0	0.000602	0	0
BRINP3	339479	broad.mit.edu	37	1	190129815	190129815	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:190129815G>A	ENST00000367462.3	-	7	1398	c.1167C>T	c.(1165-1167)atC>atT	p.I389I	FAM5C_ENST00000534846.1_Silent_p.I287I|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		389						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TTGGCAGGCTGATGAGGGGTT	0.378000													13	77					0	0	0.003163	0	0
SLC38A7	55238	broad.mit.edu	37	16	58712283	58712283	+	Silent	SNP	G	G	A	rs34881036	byFrequency	TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr16:58712283G>A	ENST00000570101.1	-	4	1448	c.565C>T	c.(565-567)Ctg>Ttg	p.L189L	SLC38A7_ENST00000564100.1_Silent_p.L189L|SLC38A7_ENST00000219320.4_Silent_p.L189L|SLC38A7_ENST00000564010.1_Silent_p.L100L|SLC38A7_ENST00000566953.1_Intron			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	189					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						GAGAGGGGCAGGATGAAGAGG	0.577000													20	45					0	0	0.007413	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			34	136					2.42023e-17	3.03987e-17	0.003271	1	0
DSCAML1	57453	broad.mit.edu	37	11	117335778	117335778	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:117335778C>T	ENST00000321322.6	-	17	3326	c.3325G>A	c.(3325-3327)Gag>Aag	p.E1109K	DSCAML1_ENST00000527706.1_Missense_Mutation_p.E839K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1049	Fibronectin type-III 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGTAGACCTCGCTGTCCCCC	0.607000													43	96					0	0	0.011902	0	0
NDN	4692	broad.mit.edu	37	15	23931648	23931648	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr15:23931648G>A	ENST00000331837.4	-	1	802	c.717C>T	c.(715-717)ttC>ttT	p.F239F		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	239	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	p.F239L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TCATTTGGACGAACTCCTCAG	0.607000									Prader-Willi syndrome				9	47					0	0	0.006214	0	0
DSC2	1824	broad.mit.edu	37	18	28648154	28648154	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr18:28648154C>T	ENST00000280904.6	-	16	2976	c.2533G>A	c.(2533-2535)Gaa>Aaa	p.E845K	DSC2_ENST00000251081.6_3'UTR	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	845					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TTGTGATTTTCATCTTGATTA	0.363000													7	44					0	0	0.004482	0	0
CACNA1B	774	broad.mit.edu	37	9	140953128	140953128	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr9:140953128C>T	ENST00000277549.5	+	30	4573	c.2004C>T	c.(2002-2004)ccC>ccT	p.P668P	CACNA1B_ENST00000371372.1_Silent_p.P1472P|CACNA1B_ENST00000371355.4_Silent_p.P1473P|CACNA1B_ENST00000371363.1_Silent_p.P1472P|CACNA1B_ENST00000371357.1_Silent_p.P1473P|CACNA1B_ENST00000277551.2_Silent_p.P1472P			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1472					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCTCCCCGCCCTTTGAATACT	0.567000													5	10					0	0	0.000602	0	0
ITGA8	8516	broad.mit.edu	37	10	15714738	15714738	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr10:15714738G>A	ENST00000378076.3	-	7	1040	c.687C>T	c.(685-687)atC>atT	p.I229I		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	229					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CACTGGCAGTGATCACTTGTC	0.448000													9	37					0	0	0.004482	0	0
LAMA4	3910	broad.mit.edu	37	6	112460492	112460492	+	Splice_Site	SNP	C	C	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:112460492C>A	ENST00000230538.7	-	24	3509	c.3110_splice	c.e24-1	p.D1038_splice	LAMA4_ENST00000522006.1_Splice_Site_p.D1031_splice|LAMA4_ENST00000389463.4_Splice_Site_p.D1031_splice|LAMA4_ENST00000424408.2_Splice_Site_p.D1031_splice	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1038					cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GCCAGCTTATCTCTGAAATGG	0.458000													21	65					1.01871e-10	1.26807e-10	0.008871	1	0
MYH1	4619	broad.mit.edu	37	17	10399779	10399779	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:10399779C>T	ENST00000226207.5	-	34	4838	c.4744G>A	c.(4744-4746)Gaa>Aaa	p.E1582K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1582						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						TCATCTTTTTCAGCAATTTTC	0.448000													39	101					0	0	0.007835	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	5605535	5605535	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chrY:5605535C>T	ENST00000215473.6	+	6	3575	c.3575C>T	c.(3574-3576)cCt>cTt	p.P1192L				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1192					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGCCACAGCCCTCCAGTGACA	0.587000													46	39					0	0	0.010771	0	0
THRSP	7069	broad.mit.edu	37	11	77775335	77775335	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:77775335G>A	ENST00000281030.2	+	1	429	c.408G>A	c.(406-408)agG>agA	p.R136R	NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron	NM_003251.3	NP_003242.1	Q92748	THRSP_HUMAN	thyroid hormone responsive	136					lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			AGGTGACAAGGAAATACCAGG	0.542000													12	18					0	0	0.013537	0	0
RINT1	60561	broad.mit.edu	37	7	105205983	105205983	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:105205983C>T	ENST00000257700.2	+	14	2305	c.2074C>T	c.(2074-2076)Ctt>Ttt	p.L692F	EFCAB10_ENST00000480514.1_Intron|EFCAB10_ENST00000485614.1_3'UTR	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	692	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCAGATAATTCTTGCTAATCA	0.358000													5	34					0	0	0.000602	0	0
OR6S1	341799	broad.mit.edu	37	14	21109703	21109703	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr14:21109703C>T	ENST00000320704.3	-	1	147	c.148G>A	c.(148-150)Gtg>Atg	p.V50M		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		GCCCTTACCACCCCCACAATC	0.463000													19	90					0	0	0.006122	0	0
MMP26	56547	broad.mit.edu	37	11	5013262	5013262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:5013262C>T	ENST00000380390.1	+	6	880	c.664C>T	c.(664-666)Cag>Tag	p.Q222*	MMP26_ENST00000300762.1_Nonsense_Mutation_p.Q222*			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	222					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTCTGGGAATCAGAGCTCCAT	0.423000													7	35					0	0	0.003080	0	0
TMEM102	284114	broad.mit.edu	37	17	7339603	7339603	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:7339603G>A	ENST00000323206.1	+	3	578	c.305G>A	c.(304-306)gGg>gAg	p.G102E	TMEM102_ENST00000396568.1_Missense_Mutation_p.G102E|RP11-104H15.7_ENST00000575310.1_RNA	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	102					regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding			kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				CTGGATCTGGGGCATGCACCC	0.607000													16	56					0	0	0.004007	0	0
OR2D2	120776	broad.mit.edu	37	11	6913692	6913692	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:6913692G>A	ENST00000299459.2	-	1	138	c.40C>T	c.(40-42)Ctt>Ttt	p.L14F		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGTCCCAGAAGGAGGAATTCT	0.433000													14	58					0	0	0.004007	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21457408	21457408	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr12:21457408G>A	ENST00000307378.6	-	7	1262	c.542C>T	c.(541-543)tCc>tTc	p.S181F	SLCO1A2_ENST00000452078.1_Missense_Mutation_p.S181F|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.S49F|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.S49F|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.S179F	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	181					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.S181F(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TTCTATATAGGAAATACCCAA	0.373000													21	26					0	0	0.008871	0	0
ZNF229	7772	broad.mit.edu	37	19	44933324	44933324	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:44933324G>A	ENST00000291187.4	-	6	1936	c.1614C>T	c.(1612-1614)ccC>ccT	p.P538P	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Silent_p.P544P|CTC-512J12.4_ENST00000588655.1_RNA	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CGCATTTGTAGGGTTTCTCTC	0.512000													24	75					0	0	0.014323	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54903641	54903641	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr12:54903641G>A	ENST00000293373.6	+	7	686	c.607G>A	c.(607-609)Gga>Aga	p.G203R	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.G153R	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	203					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GGCTGTGAGTGGAGCCCTCCT	0.517000													63	190					0	0	0.014410	0	0
OR10A6	390093	broad.mit.edu	37	11	7949494	7949494	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:7949494G>A	ENST00000309838.2	-	1	715	c.716C>T	c.(715-717)tCc>tTc	p.S239F		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGCACAGGTGGAAAAGGCCTT	0.443000													16	52					0	0	0.003163	0	0
SPTBN5	51332	broad.mit.edu	37	15	42171478	42171478	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr15:42171478G>A	ENST00000320955.6	-	16	3389	c.3162C>T	c.(3160-3162)ttC>ttT	p.F1054F		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1054					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CACTTTGGAGGAAGTGGACCC	0.637000													22	55					0	0	0.010504	0	0
OR13H1	347468	broad.mit.edu	37	X	130678461	130678461	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chrX:130678461C>T	ENST00000338616.3	+	1	512	c.414C>T	c.(412-414)ggC>ggT	p.G138G		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TTATGAATGGCCCAGTATGTG	0.537000													54	64					0	0	0.014410	0	0
SSTR1	6751	broad.mit.edu	37	14	38678754	38678754	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr14:38678754G>A	ENST00000267377.2	+	3	777	c.160G>A	c.(160-162)Ggc>Agc	p.G54S		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	54					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	CTTGAGCGAGGGCCAGGGCAG	0.667000													12	29					0	0	0.010729	0	0
NADK	65220	broad.mit.edu	37	1	1696761	1696761	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:1696761C>T	ENST00000344463.4	-	2	306	c.85G>A	c.(85-87)Gat>Aat	p.D29N	NADK_ENST00000492768.1_5'UTR|NADK_ENST00000341991.3_Missense_Mutation_p.D29N|NADK_ENST00000378625.1_Missense_Mutation_p.D29N|NADK_ENST00000341426.5_Missense_Mutation_p.D29N			O95544	NADK_HUMAN	NAD kinase	29					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CAGGTCTCATCGCCGTGGCAG	0.562000													18	72					0	0	0.004990	0	0
CCNT1	904	broad.mit.edu	37	12	49087393	49087393	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr12:49087393A>G	ENST00000261900.3	-	9	1826	c.1604T>C	c.(1603-1605)gTt>gCt	p.V535A		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	535					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						CCCAGTACCAACTGGAAGTTG	0.428000													66	182					0	0	0.014410	0	0
OGFOD3	79701	broad.mit.edu	37	17	80369340	80369340	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:80369340C>T	ENST00000313056.5	-	3	522	c.371G>A	c.(370-372)cGg>cAg	p.R124Q	OGFOD3_ENST00000329197.5_Missense_Mutation_p.R124Q	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3			2-oxoglutarate and iron-dependent oxygenase domain containing 3																		CCTGCGAATCCGCTCCGCTTC	0.582000													6	40					0	0	0.001168	0	0
ASXL3	80816	broad.mit.edu	37	18	31324785	31324785	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr18:31324785G>A	ENST00000269197.5	+	12	4973	c.4973G>A	c.(4972-4974)aGg>aAg	p.R1658K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1658					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTTCATCCCAGGAATCTTGTA	0.433000													12	61					0	0	0.010729	0	0
PAPPA	5069	broad.mit.edu	37	9	118949888	118949888	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr9:118949888G>A	ENST00000328252.3	+	2	1240	c.871G>A	c.(871-873)Gac>Aac	p.D291N		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	291	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGAGAACTGGGACAATGTGAA	0.582000													22	38					0	0	0.010504	0	0
FGF19	9965	broad.mit.edu	37	11	69514100	69514100	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:69514100G>A	ENST00000294312.3	-	3	1346	c.581C>T	c.(580-582)aCc>aTc	p.T194I		NM_005117.2	NP_005108.1	O95750	FGF19_HUMAN	fibroblast growth factor 19	194					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import|positive regulation of JNK cascade	extracellular region	fibroblast growth factor receptor binding|growth factor activity			large_intestine(2)|lung(2)|skin(2)	6	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			CATGCTGTCGGTCTCCAGGGG	0.592000													24	38					0	0	0.002780	0	0
WDR62	284403	broad.mit.edu	37	19	36577616	36577616	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:36577616G>A	ENST00000401500.2	+	13	1705	c.1670G>A	c.(1669-1671)cGg>cAg	p.R557Q	WDR62_ENST00000270301.7_Missense_Mutation_p.R557Q	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	557					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCAGCCAGTCGGGACCGGCTG	0.597000													4	14					0	0	0.000602	0	0
REG1P	5969	broad.mit.edu	37	2	79363984	79363984	+	RNA	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:79363984C>T	ENST00000444841.1	-	0	354																											ATCAGCGAAGCCACAAAGGCA	0.512000													7	37					0	0	0.001984	0	0
CEP135	9662	broad.mit.edu	37	4	56886933	56886933	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr4:56886933G>A	ENST00000257287.4	+	24	3431	c.3307G>A	c.(3307-3309)Gaa>Aaa	p.E1103K		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	1103					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	p.E1103K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GATCTCAACTGAAAGATACGA	0.333000													35	52					0	0	0.003271	0	0
ITGA5	3678	broad.mit.edu	37	12	54799035	54799035	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr12:54799035G>A	ENST00000293379.4	-	12	1401	c.1140C>T	c.(1138-1140)acC>acT	p.T380T	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	380					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TGAGGGTAAGGGTGGGCGTGG	0.642000													28	74					0	0	0.004656	0	0
MIR323B	574410	broad.mit.edu	37	14	101522630	101522630	+	RNA	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr14:101522630C>T	ENST00000385269.2	+	0	75					NR_036133.1																						GACCTCTTTTCGGTATCAGAT	0.512000													4	13					0	0	0.009096	0	0
GCOM1	145781	broad.mit.edu	37	15	57913864	57913864	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr15:57913864G>A	ENST00000574161.1	+	4	496	c.377G>A	c.(376-378)aGa>aAa	p.R126K	MYZAP_ENST00000267853.5_Missense_Mutation_p.R126K|GCOM1_ENST00000396180.1_Intron|MYZAP_ENST00000380565.4_Missense_Mutation_p.R126K|GCOM1_ENST00000572390.1_Missense_Mutation_p.R126K|POLR2M_ENST00000380563.2_Intron|GCOM1_ENST00000380569.2_Missense_Mutation_p.R126K|GCOM1_ENST00000380560.2_Intron|GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000587652.1_Missense_Mutation_p.R126K|GCOM1_ENST00000380568.3_Missense_Mutation_p.R126K	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		126					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GATGAGATGAGACAGAAGATT	0.468000													33	95					0	0	0.003755	0	0
ASTN1	460	broad.mit.edu	37	1	177001793	177001793	+	Missense_Mutation	SNP	C	C	A	rs148328689		TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:177001793C>A	ENST00000367654.2	-	3	677	c.664G>T	c.(664-666)Gtg>Ttg	p.V222L	ASTN1_ENST00000424564.2_Missense_Mutation_p.V222L|ASTN1_ENST00000361833.2_Missense_Mutation_p.V222L|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.V222L			O14525	ASTN1_HUMAN	astrotactin 1	222					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						TGGCCCTGCACGCGGGCATTG	0.602000													50	67					3.86236e-30	4.86587e-30	0.014410	1	0
RBL1	5933	broad.mit.edu	37	20	35690648	35690648	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr20:35690648C>G	ENST00000373664.3	-	8	988	c.922G>C	c.(922-924)Gag>Cag	p.E308Q	RBL1_ENST00000344359.3_Missense_Mutation_p.E308Q	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	308					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				AGAACATACTCTTCATACTCC	0.373000													13	26					0	0	0.002450	0	0
RCCD1	91433	broad.mit.edu	37	15	91500016	91500016	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr15:91500016G>T	ENST00000394258.2	+	2	254	c.52G>T	c.(52-54)Ggg>Tgg	p.G18W	RCCD1_ENST00000556618.1_Missense_Mutation_p.G18W|RCCD1_ENST00000556774.1_Intron|RCCD1_ENST00000555155.1_Missense_Mutation_p.G18W	NM_001017919.1|NM_033544.2	NP_001017919.1|NP_291022.2	A6NED2	RCCD1_HUMAN	RCC1 domain containing 1	18										breast(1)|kidney(1)|large_intestine(2)	4	Lung NSC(78;0.0987)|all_lung(78;0.175)		Lung(145;0.189)			CTGCGGCTTCGGGCAGGAGCT	0.771000											OREG0023477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	261					0.00198382	0.00243309	0.001984	1	0
PENK	5179	broad.mit.edu	37	8	57354230	57354230	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr8:57354230C>T	ENST00000314922.3	-	2	481	c.405G>A	c.(403-405)cgG>cgA	p.R135R	PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Silent_p.R135R	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	135					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			AGCCCCCATACCGCTTGGCGA	0.512000													23	86					0	0	0.004656	0	0
FRA10AC1	118924	broad.mit.edu	37	10	95430554	95430554	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr10:95430554G>A	ENST00000359204.4	-	13	1075	c.878C>T	c.(877-879)cCa>cTa	p.P293L	FRA10AC1_ENST00000536233.1_3'UTR|FRA10AC1_ENST00000460752.1_5'UTR	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	293						nucleus	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						CTCTGGTAGTGGACCCTTCCA	0.323000													6	19					0	0	0.001168	0	0
MARCO	8685	broad.mit.edu	37	2	119749416	119749416	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:119749416G>A	ENST00000541757.1	+	15	1318	c.938G>A	c.(937-939)gGa>gAa	p.G313E	MARCO_ENST00000327097.4_Missense_Mutation_p.G391E			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	391	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGAGCCCCTGGACAAGCTGGC	0.582000													5	26					0	0	0.000602	0	0
GPR98	84059	broad.mit.edu	37	5	90046440	90046440	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr5:90046440G>A	ENST00000405460.2	+	53	11143	c.11047G>A	c.(11047-11049)Gga>Aga	p.G3683R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3683					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACGCTTAAAAGGAACATATGG	0.363000													47	86					0	0	0.014410	0	0
SCN9A	6335	broad.mit.edu	37	2	167055571	167055571	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:167055571G>A	ENST00000375387.4	-	27	5921	c.5581C>T	c.(5581-5583)Cgt>Tgt	p.R1861C	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1849C|SCN9A_ENST00000409435.1_Missense_Mutation_p.R1860C|SCN9A_ENST00000303354.6_Missense_Mutation_p.R1861C			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1860						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATCTGTGAACGAAGAGAATCC	0.453000													32	112					0	0	0.003271	0	0
PSG9	5678	broad.mit.edu	37	19	43766210	43766210	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:43766210G>A	ENST00000244293.7	-	3	577	c.511C>T	c.(511-513)Cct>Tct	p.P171S	PSG9_ENST00000593948.1_Missense_Mutation_p.P171S|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000270077.3_Missense_Mutation_p.P171S|PSG9_ENST00000596730.1_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	171	Ig-like C2-type 1.				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)				AGAGTCTCAGGATCACAGATT	0.532000													66	184					0	0	0.014410	0	0
C2CD5	9847	broad.mit.edu	37	12	22609921	22609921	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr12:22609921G>A	ENST00000333957.4	-	23	2963	c.2708C>T	c.(2707-2709)aCt>aTt	p.T903I	C2CD5_ENST00000446597.1_Missense_Mutation_p.T954I|C2CD5_ENST00000544930.1_Missense_Mutation_p.T759I|C2CD5_ENST00000396028.2_Missense_Mutation_p.T945I|C2CD5_ENST00000536386.1_Missense_Mutation_p.T956I|C2CD5_ENST00000542676.1_Missense_Mutation_p.T954I|C2CD5_ENST00000545552.1_Missense_Mutation_p.T957I	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5																		AAGAGAAGTAGTCTCTCGAAT	0.284000													7	19					0	0	0.003080	0	0
PAPPA	5069	broad.mit.edu	37	9	119094741	119094741	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr9:119094741G>A	ENST00000328252.3	+	12	3760	c.3391G>A	c.(3391-3393)Gat>Aat	p.D1131N	PAPPA_ENST00000534838.1_Missense_Mutation_p.D169N	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1131					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TCAGAGCCACGATCTAGGTAA	0.493000													15	29					0	0	0.003163	0	0
ZNF200	7752	broad.mit.edu	37	16	3274148	3274148	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr16:3274148G>A	ENST00000431561.3	-	5	1544	c.932C>T	c.(931-933)tCt>tTt	p.S311F	ZNF200_ENST00000575948.1_Missense_Mutation_p.S310F|ZNF200_ENST00000396871.4_Missense_Mutation_p.S310F|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000414144.2_Missense_Mutation_p.S311F|ZNF200_ENST00000396868.3_Missense_Mutation_p.S310F|ZNF200_ENST00000396870.4_Missense_Mutation_p.S310F	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						TCCACACTGAGAACAGGAATA	0.388000													33	99					0	0	0.003755	0	0
SRCIN1	80725	broad.mit.edu	37	17	36704930	36704930	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:36704930C>T	ENST00000264659.7	-	17	3357	c.3133G>A	c.(3133-3135)Gag>Aag	p.E1045K	SRCIN1_ENST00000578925.1_Missense_Mutation_p.E1079K|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	917					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						ACCTCCAGCTCCTCGGACTCA	0.667000													7	26					0	0	0.001984	0	0
ADAD1	132612	broad.mit.edu	37	4	123301320	123301320	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr4:123301320G>A	ENST00000296513.2	+	3	281	c.96G>A	c.(94-96)acG>acA	p.T32T	ADAD1_ENST00000388725.2_Silent_p.T14T|ADAD1_ENST00000388724.2_Silent_p.T32T	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	32					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						CGACAAAGACGATAACTACAC	0.468000													33	26					0	0	0.010818	0	0
DUSP22	56940	broad.mit.edu	37	6	348772	348772	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:348772C>T	ENST00000604971.1	+	4	1243	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W	DUSP22_ENST00000419235.2_Missense_Mutation_p.R147W|DUSP22_ENST00000605315.1_Missense_Mutation_p.R44W|DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000344450.5_Missense_Mutation_p.R147W|DUSP22_ENST00000603453.1_Missense_Mutation_p.R44W			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	147					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TCTCCAGTATCGGCAGTGGCT	0.517000													15	103					0	0	0.004007	0	0
SLC9C1	285335	broad.mit.edu	37	3	111918179	111918179	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr3:111918179C>T	ENST00000305815.5	-	20	2764	c.2512G>A	c.(2512-2514)Gga>Aga	p.G838R	SLC9C1_ENST00000487372.1_Missense_Mutation_p.G790R	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	838					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TTATTAATTCCAGCACCTTCA	0.308000													7	42					0	0	0.001984	0	0
FAM83H	286077	broad.mit.edu	37	8	144808643	144808643	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr8:144808643G>A	ENST00000388913.3	-	5	3113	c.2988C>T	c.(2986-2988)ccC>ccT	p.P996P		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	996					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-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;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCGGGCTCTCGGGTTGGCCGT	0.697000													14	18					0	0	0.002450	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72027980	72027980	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr12:72027980A>G	ENST00000378743.3	-	12	2823	c.2465T>C	c.(2464-2466)gTt>gCt	p.V822A		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	822					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTGCTTAGTAACCATTGCTAT	0.378000													9	40					0	0	0.004482	0	0
NOSIP	51070	broad.mit.edu	37	19	50059050	50059050	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:50059050C>T	ENST00000391853.3	-	10	1015	c.864G>A	c.(862-864)gtG>gtA	p.V288V	NOSIP_ENST00000596358.1_Silent_p.V288V|NOSIP_ENST00000339093.3_Silent_p.V291V	NM_015953.3	NP_057037.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	288					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		CTTGCAGCTTCACTCCGGAGC	0.647000													13	59					0	0	0.002450	0	0
TTI1	9675	broad.mit.edu	37	20	36642137	36642137	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr20:36642137C>G	ENST00000373448.2	-	3	320	c.82G>C	c.(82-84)Gag>Cag	p.E28Q	TTI1_ENST00000449821.1_Missense_Mutation_p.E28Q|TTI1_ENST00000373447.3_Missense_Mutation_p.E28Q|TTI1_ENST00000487362.1_5'UTR	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	28							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TCCACATTCTCCACTGTCTGG	0.512000													34	101					0	0	0.003755	0	0
CAPN9	10753	broad.mit.edu	37	1	230883404	230883404	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:230883404C>T	ENST00000354537.1	+	1	244	c.162C>T	c.(160-162)tcC>tcT	p.S54S	CAPN9_ENST00000366666.2_Silent_p.S54S|CAPN9_ENST00000271971.2_Silent_p.S54S|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	54	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GCAATTCCTCCCTGTTCTACA	0.587000													44	68					0	0	0.014410	0	0
RIPK1	8737	broad.mit.edu	37	6	3083487	3083487	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:3083487G>A	ENST00000259808.4	+	5	926	c.628G>A	c.(628-630)Gat>Aat	p.D210N	RIPK1_ENST00000541791.1_Missense_Mutation_p.D164N|RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000380409.2_Missense_Mutation_p.D210N			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	210	Protein kinase.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				AGAGAAGTCGGATGTGTACAG	0.517000													14	54					0	0	0.001855	0	0
RGPD3	653489	broad.mit.edu	37	2	107041440	107041440	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:107041440C>T	ENST00000409886.3	-	20	3070	c.2983G>A	c.(2983-2985)Gga>Aga	p.G995R	RGPD3_ENST00000304514.7_Missense_Mutation_p.G995R	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	995					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCTGAAAATCCCTTGAAATTG	0.373000													57	154					0	0	0.014410	0	0
IRX1	79192	broad.mit.edu	37	5	3599720	3599720	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr5:3599720G>A	ENST00000302006.3	+	2	710	c.658G>A	c.(658-660)Gac>Aac	p.D220N	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	220						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GGCCGAGGACGACGAGGAGAT	0.617000													16	31					0	0	0.004007	0	0
CACNA1H	8912	broad.mit.edu	37	16	1261270	1261270	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr16:1261270C>T	ENST00000348261.5	+	22	4574	c.4326C>T	c.(4324-4326)atC>atT	p.I1442I	CACNA1H_ENST00000358590.4_Silent_p.I1442I|CACNA1H_ENST00000565831.1_Silent_p.I1442I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1442					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CCTTCTTCATCATTTTTGGCA	0.627000													34	130					0	0	0.004289	0	0
PTPRF	5792	broad.mit.edu	37	1	44057176	44057176	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:44057176G>A	ENST00000359947.4	+	9	1823	c.1483G>A	c.(1483-1485)Ggc>Agc	p.G495S	PTPRF_ENST00000372414.3_Missense_Mutation_p.G495S|PTPRF_ENST00000438120.1_Missense_Mutation_p.G495S|PTPRF_ENST00000372413.3_Missense_Mutation_p.G495S|PTPRF_ENST00000422171.2_5'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	495	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CACCGCCGTGGGCGATGGCCC	0.682000													3	18					0	0	0.004672	0	0
CSMD1	64478	broad.mit.edu	37	8	2886972	2886972	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr8:2886972C>T	ENST00000520002.1	-	52	8282	c.7727G>A	c.(7726-7728)gGa>gAa	p.G2576E	CSMD1_ENST00000602557.1_Missense_Mutation_p.G2576E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2575E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2576E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2575E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2576E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2576	Sushi 16.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATTCAAGGATCCTGAAACCAG	0.522000													5	14					0	0	0.000602	0	0
OR4N5	390437	broad.mit.edu	37	14	20612314	20612314	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr14:20612314C>T	ENST00000333629.1	+	1	420	c.420C>T	c.(418-420)gcC>gcT	p.A140A		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		ACCCTAGAGCCTGCTATGCAT	0.512000													37	172					0	0	0.006999	0	0
CDKAL1	54901	broad.mit.edu	37	6	21065457	21065457	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:21065457G>A	ENST00000274695.4	+	12	1401	c.1234G>A	c.(1234-1236)Gtg>Atg	p.V412M	CDKAL1_ENST00000378610.1_Missense_Mutation_p.V412M|CDKAL1_ENST00000378624.4_Missense_Mutation_p.V342M	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	412					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TCCAGCACAAGTGGTAAGATC	0.393000													51	140					0	0	0.014410	0	0
UTS2R	2837	broad.mit.edu	37	17	80333227	80333227	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:80333227C>T	ENST00000313135.2	+	1	1075	c.1027C>T	c.(1027-1029)Ccc>Tcc	p.P343S		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	343						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)			ggggcccgTTCCCTCCCTGCA	0.751000													7	14					0	0	0.001984	0	0
OR5P3	120066	broad.mit.edu	37	11	7846870	7846870	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:7846870G>A	ENST00000328375.1	-	1	649	c.650C>T	c.(649-651)tCc>tTc	p.S217F	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATAGATGTAGGATATGGCTAT	0.473000													19	48					0	0	0.010504	0	0
MYO3A	53904	broad.mit.edu	37	10	26243817	26243817	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr10:26243817G>A	ENST00000265944.5	+	4	349	c.183G>A	c.(181-183)gaG>gaA	p.E61E	MYO3A_ENST00000376301.1_Silent_p.E61E|MYO3A_ENST00000376302.1_Silent_p.E61E|MYO3A_ENST00000543632.1_Silent_p.E61E	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	61	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTGACGAAGAGATTGAAGCAG	0.323000													28	49					0	0	0.006320	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134488026	134488026	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr8:134488026G>A	ENST00000319914.5	-	4	1269	c.242C>T	c.(241-243)aCc>aTc	p.T81I	ST3GAL1_ENST00000522652.1_Missense_Mutation_p.T81I|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.T81I|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.T81I			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	81					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CGGCTGCATGGTCTGGTTGAA	0.617000													9	33					0	0	0.004482	0	0
GPLD1	2822	broad.mit.edu	37	6	24450108	24450108	+	Missense_Mutation	SNP	G	G	A	rs149093201		TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:24450108G>A	ENST00000230036.1	-	15	1465	c.1355C>T	c.(1354-1356)tCg>tTg	p.S452L		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	452						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						AGCCAAGGCCGAGCCAAACCG	0.622000													19	52					0	0	0.008871	0	0
EGLN3	112399	broad.mit.edu	37	14	34398386	34398386	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr14:34398386C>T	ENST00000250457.3	-	3	838	c.510G>A	c.(508-510)gaG>gaA	p.E170E	EGLN3_ENST00000553215.1_Silent_p.E76E	NM_022073.3	NP_071356.1	Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	170	Fe2OG dioxygenase.				apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	ATGATTTCCCCTCTGGAAATA	0.453000													11	42					0	0	0.010729	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125405422	125405422	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:125405422C>T	ENST00000431078.1	+	13	2325	c.1961C>T	c.(1960-1962)gCc>gTc	p.A654V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	654	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TATGCCATGGCCTTGGACTAC	0.612000													9	15					0	0	0.006214	0	0
MRPL42	28977	broad.mit.edu	37	12	93881291	93881291	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr12:93881291C>T	ENST00000549982.1	+	5	399	c.238C>T	c.(238-240)Cct>Tct	p.P80S	MRPL42_ENST00000393128.4_Missense_Mutation_p.P80S|MRPL42_ENST00000361630.2_Missense_Mutation_p.P80S|MRPL42_ENST00000548545.1_Missense_Mutation_p.P80S|MRPL42_ENST00000547098.1_Missense_Mutation_p.P80S|MRPL42_ENST00000552217.1_Missense_Mutation_p.P80S	NM_014050.3|NM_172177.3	NP_054769.1|NP_751917.1	Q9Y6G3	RM42_HUMAN	mitochondrial ribosomal protein L42	80					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)	7						TCGGCCAGATCCTGTGCATAA	0.373000													9	58					0	0	0.006214	0	0
ZNF230	7773	broad.mit.edu	37	19	44515405	44515405	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:44515405C>T	ENST00000429154.2	+	5	1442	c.1214C>T	c.(1213-1215)tCa>tTa	p.S405L		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AGCCGGGCTTCAAGTATTTTG	0.433000													20	57					0	0	0.007413	0	0
MC2R	4158	broad.mit.edu	37	18	13884885	13884885	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr18:13884885G>A	ENST00000327606.3	-	2	813	c.633C>T	c.(631-633)ccC>ccT	p.P211P		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	211					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TGTTGGCTCTGGGGAGGGTGG	0.557000													12	42					0	0	0.010729	0	0
KYNU	8942	broad.mit.edu	37	2	143715284	143715284	+	Splice_Site	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:143715284G>A	ENST00000264170.4	+	7	840	c.582_splice	c.e7+1	p.E194_splice	KYNU_ENST00000375773.2_Splice_Site_p.E194_splice|KYNU_ENST00000409512.1_Splice_Site_p.E194_splice	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	194					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)	AGCCAAGAGAGGTATATGAGA	0.289000													5	22					0	0	0.001984	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49327778	49327778	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr15:49327778G>A	ENST00000559471.1	-	3	544	c.281C>T	c.(280-282)cCc>cTc	p.P94L	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.P94L	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	94										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						AGATATAATGGGATAGGCAAA	0.413000													15	51					0	0	0.003163	0	0
SH2D5	400745	broad.mit.edu	37	1	21050224	21050224	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:21050224G>A	ENST00000375031.1	-	7	1175	c.551C>T	c.(550-552)cCt>cTt	p.P184L	SH2D5_ENST00000444387.2_Missense_Mutation_p.P268L|SH2D5_ENST00000460804.1_5'UTR	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	184										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCATGCGGCAGGAACTGTGGA	0.672000													10	28					0	0	0.006214	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508264	37508264	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr10:37508264C>T	ENST00000374660.1	+	40	3912	c.3813C>T	c.(3811-3813)gaC>gaT	p.D1271D	ANKRD30A_ENST00000361713.1_Silent_p.D1152D|ANKRD30A_ENST00000602533.1_Silent_p.D1152D			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1208						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTGTACAAGACCATGATCAAA	0.373000													15	35					0	0	0.002450	0	0
CCDC27	148870	broad.mit.edu	37	1	3673309	3673309	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:3673309C>T	ENST00000294600.2	+	4	650	c.566C>T	c.(565-567)cCc>cTc	p.P189L		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	189										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TACCTCCTTCCCTTCAGTAAG	0.567000													29	89					0	0	0.013726	0	0
ITGA2B	3674	broad.mit.edu	37	17	42463233	42463233	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:42463233C>T	ENST00000262407.5	-	3	398	c.367G>A	c.(367-369)Gga>Aga	p.G123R	ITGA2B_ENST00000353281.4_Missense_Mutation_p.G123R	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	123					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	GCCCCCAGTCCTTGGCGGGCC	0.642000													3	20					0	0	0.004672	0	0
IFIT3	3437	broad.mit.edu	37	10	91099144	91099144	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr10:91099144C>T	ENST00000371818.4	+	2	912	c.732C>T	c.(730-732)ctC>ctT	p.L244L	LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Silent_p.L244L|LIPA_ENST00000487618.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	244					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						CAGATGTCCTCCGCAGTGCAG	0.443000													14	23					0	0	0.003163	0	0
CSMD2	114784	broad.mit.edu	37	1	34090734	34090734	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:34090734G>A	ENST00000373381.4	-	34	5593	c.5417C>T	c.(5416-5418)gCc>gTc	p.A1806V	CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.A679V	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1766	CUB 11.					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)				CCCCTGCAGGGCATAGCCGGA	0.642000													22	74					0	0	0.014323	0	0
APBA2	321	broad.mit.edu	37	15	29346946	29346946	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr15:29346946C>T	ENST00000558402.1	+	5	1458	c.859C>T	c.(859-861)Ctt>Ttt	p.L287F	APBA2_ENST00000558259.1_Missense_Mutation_p.L287F|APBA2_ENST00000558330.1_Missense_Mutation_p.L287F|APBA2_ENST00000411764.1_Missense_Mutation_p.L287F|APBA2_ENST00000561069.1_Missense_Mutation_p.L287F			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	287					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GCTGAACCTCCTTCCCGAGGC	0.667000													11	31					0	0	0.008291	0	0
KCTD3	51133	broad.mit.edu	37	1	215759998	215759998	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:215759998G>T	ENST00000259154.4	+	9	1081	c.787G>T	c.(787-789)Gtt>Ttt	p.V263F		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	263						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		CTTGTGGAGTGTTCAGGATGG	0.393000													33	118					4.31634e-10	5.35688e-10	0.012213	1	0
WDR62	284403	broad.mit.edu	37	19	36577617	36577617	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:36577617G>A	ENST00000401500.2	+	13	1706	c.1671G>A	c.(1669-1671)cgG>cgA	p.R557R	WDR62_ENST00000270301.7_Silent_p.R557R	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	557					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CAGCCAGTCGGGACCGGCTGA	0.602000													4	14					0	0	0.000602	0	0
MYH2	4620	broad.mit.edu	37	17	10436921	10436921	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:10436921G>A	ENST00000245503.5	-	20	2593	c.2209C>T	c.(2209-2211)Cct>Tct	p.P737S	MYH2_ENST00000397183.2_Missense_Mutation_p.P737S|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	737	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGCCCTTCAGGGATTGCACTT	0.383000													15	60					0	0	0.002450	0	0
MICALL2	79778	broad.mit.edu	37	7	1482004	1482004	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:1482004G>A	ENST00000297508.7	-	7	1710	c.1535C>T	c.(1534-1536)tCg>tTg	p.S512L	MICALL2_ENST00000405088.4_Missense_Mutation_p.S300L	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	512						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		TTCCATCCTCGAAGGGAGGCC	0.632000													60	161					0	0	0.014410	0	0
CCDC40	55036	broad.mit.edu	37	17	78063627	78063627	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:78063627T>C	ENST00000397545.4	+	17	2803	c.2776T>C	c.(2776-2778)Tcc>Ccc	p.S926P	CCDC40_ENST00000374877.3_Missense_Mutation_p.S926P|CCDC40_ENST00000573903.1_3'UTR	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	926					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CTCAGTGGATTCCGAGATCGG	0.547000													8	30					0	0	0.003080	0	0
RPE65	6121	broad.mit.edu	37	1	68906623	68906623	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:68906623C>T	ENST00000262340.5	-	6	609	c.556G>A	c.(556-558)Gat>Aat	p.D186N		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	186					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						ACGGTTCCATCATTTTCAATG	0.413000													7	30					0	0	0.001984	0	0
SEC61A1	29927	broad.mit.edu	37	3	127786443	127786443	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr3:127786443C>T	ENST00000243253.3	+	10	1339	c.1155C>T	c.(1153-1155)tcC>tcT	p.S385S	RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000424880.2_Silent_p.S265S|SEC61A1_ENST00000464451.1_Silent_p.S391S|SEC61A1_ENST00000483956.1_3'UTR	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	385					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						TCTCAGGTTCCTCTGCCAAAG	0.458000													18	47					0	0	0.008871	0	0
TGM4	7047	broad.mit.edu	37	3	44951734	44951734	+	Missense_Mutation	SNP	C	C	T	rs145555133		TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr3:44951734C>T	ENST00000296125.4	+	11	1548	c.1480C>T	c.(1480-1482)Ctt>Ttt	p.L494F		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	494					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CACCGTGATTCTTAAAAGGAA	0.448000													30	77					0	0	0.013726	0	0
PDE1C	5137	broad.mit.edu	37	7	31887622	31887622	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:31887622C>T	ENST00000396184.3	-	10	1144	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	PDE1C_ENST00000396193.1_Missense_Mutation_p.E374K|PDE1C_ENST00000396182.2_Missense_Mutation_p.E314K|PDE1C_ENST00000396191.1_Missense_Mutation_p.E314K|PDE1C_ENST00000321453.7_Missense_Mutation_p.E314K	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	314	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			ATATTCATTTCCTCGTCATCT	0.408000													14	35					0	0	0.001855	0	0
CLDN6	9074	broad.mit.edu	37	16	3065388	3065388	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr16:3065388G>A	ENST00000396925.1	-	3	1063	c.635C>T	c.(634-636)tCt>tTt	p.S212F	CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Missense_Mutation_p.S212F			P56747	CLD6_HUMAN	claudin 6	212					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						AGGGTACTCAGAGGGCCCCCG	0.632000													24	87					0	0	0.004656	0	0
SLC9C2	284525	broad.mit.edu	37	1	173567150	173567150	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:173567150G>A	ENST00000367714.3	-	4	672	c.250C>T	c.(250-252)Ctt>Ttt	p.L84F	SLC9C2_ENST00000536496.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	84					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										GTTCTTAGAAGAGGGTAGACA	0.308000													25	31					0	0	0.002780	0	0
ALKBH1	8846	broad.mit.edu	37	14	78140470	78140470	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr14:78140470C>G	ENST00000216489.3	-	6	870	c.855G>C	c.(853-855)ttG>ttC	p.L285F		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	285	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CTGCGTGGTTCAAGAGGCGGC	0.562000													21	39					0	0	0.010504	0	0
SYNJ2	8871	broad.mit.edu	37	6	158497657	158497657	+	Splice_Site	SNP	G	G	A	rs143612133		TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:158497657G>A	ENST00000355585.4	+	17	2367		c.e17-1		SYNJ2_ENST00000367121.3_Splice_Site|SYNJ2_ENST00000367122.2_Splice_Site	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2								nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TCTCCCAATAGATTTTTAAGG	0.428000													18	53					0	0	0.007413	0	0
FMN2	56776	broad.mit.edu	37	1	240341353	240341353	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:240341353G>A	ENST00000319653.9	+	3	2145	c.1915G>A	c.(1915-1917)Gag>Aag	p.E639K	RP11-567G24.3_ENST00000444308.1_RNA|RP11-567G24.3_ENST00000412311.1_RNA	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	639					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACACAGGCTCGAGGATGCTGA	0.448000													6	38					0	0	0.001984	0	0
FUCA1	2517	broad.mit.edu	37	1	24181003	24181003	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:24181003G>A	ENST00000374479.3	-	5	823	c.816C>T	c.(814-816)caC>caT	p.H272H		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	272					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		ATCCTCCATGGTGACAGGAAC	0.448000													37	96					0	0	0.003755	0	0
KIAA1109	84162	broad.mit.edu	37	4	123132086	123132086	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr4:123132086C>T	ENST00000264501.4	+	20	2456	c.2083C>T	c.(2083-2085)Cag>Tag	p.Q695*	KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.Q695*|KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.Q695*|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	695					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						AAGGCCATCCCAGAAGACATC	0.398000													9	30					0	0	0.004482	0	0
SLC16A3	9123	broad.mit.edu	37	17	80196837	80196837	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:80196837G>A	ENST00000581287.1	+	4	3705	c.1383G>A	c.(1381-1383)ccG>ccA	p.P461P	SLC16A3_ENST00000392341.1_Silent_p.P461P|SLC16A3_ENST00000392339.1_Silent_p.P461P|SLC16A3_ENST00000582743.1_Silent_p.P461P	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	461					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|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;0.0149)		Pyruvic acid(DB00119)	TTCACACCCCGGAAACAAGTG	0.587000													27	76					0	0	0.004656	0	0
E2F8	79733	broad.mit.edu	37	11	19246915	19246915	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:19246915G>A	ENST00000527884.1	-	12	2506	c.2274C>T	c.(2272-2274)atC>atT	p.I758I	E2F8_ENST00000250024.4_Silent_p.I758I|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	758					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACACAGGAACGATTCCAGACC	0.537000													34	92					0	0	0.010818	0	0
DSE	29940	broad.mit.edu	37	6	116757091	116757091	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:116757091C>T	ENST00000331677.3	+	7	1904	c.1460C>T	c.(1459-1461)tCc>tTc	p.S487F	DSE_ENST00000359564.2_Missense_Mutation_p.S487F|DSE_ENST00000537543.1_Missense_Mutation_p.S506F|DSE_ENST00000452085.3_Missense_Mutation_p.S487F			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	487					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TTGATGTTTTCCCCAGCTGTG	0.453000													11	55					0	0	0.010729	0	0
CATSPERG	57828	broad.mit.edu	37	19	38860873	38860873	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:38860873C>T	ENST00000409235.3	+	28	3303	c.3188C>T	c.(3187-3189)cCc>cTc	p.P1063L	CATSPERG_ENST00000410018.1_Missense_Mutation_p.P1023L|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1063					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CCACTCAGTCCCAAGCGGGCC	0.607000													6	32					0	0	0.001168	0	0
ROS1	6098	broad.mit.edu	37	6	117622149	117622149	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:117622149C>T	ENST00000368508.3	-	42	6919	c.6721G>A	c.(6721-6723)Gaa>Aaa	p.E2241K	ROS1_ENST00000368507.3_Missense_Mutation_p.E2235K	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2241					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCAAAGCTTTCATTTATGACT	0.323000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								13	36					0	0	0.013537	0	0
PAF1	54623	broad.mit.edu	37	19	39876822	39876822	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:39876822C>A	ENST00000221265.3	-	14	1735	c.1405G>T	c.(1405-1407)Gag>Tag	p.E469*	PAF1_ENST00000595564.1_Missense_Mutation_p.M397I|PAF1_ENST00000221266.7_Missense_Mutation_p.M374I	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	469					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCTCTGTCCTCATCATCAGAG	0.617000													43	127					3.66854e-30	4.6357e-30	0.007835	1	0
KCNAB1	7881	broad.mit.edu	37	3	155838463	155838463	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr3:155838463G>A	ENST00000490337.1	+	1	127	c.63G>A	c.(61-63)agG>agA	p.R21R	KCNAB1_ENST00000389636.5_Silent_p.R21R	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	21						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CCAAGTTAAGGAGACAGTCTG	0.527000													43	118					0	0	0.008740	0	0
CRYGN	155051	broad.mit.edu	37	7	151135082	151135082	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:151135082C>T	ENST00000337323.2	-	2	396	c.270_splice	c.e2+1	p.M90_splice	CRYGN_ENST00000476631.1_5'UTR|RP4-555L14.4_ENST00000465549.1_RNA	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	90										central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCCACTCACCATTCCTACAG	0.642000													16	53					0	0	0.007413	0	0
APBA2	321	broad.mit.edu	37	15	29346945	29346945	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr15:29346945C>T	ENST00000558402.1	+	5	1457	c.858C>T	c.(856-858)ctC>ctT	p.L286L	APBA2_ENST00000558259.1_Silent_p.L286L|APBA2_ENST00000558330.1_Silent_p.L286L|APBA2_ENST00000411764.1_Silent_p.L286L|APBA2_ENST00000561069.1_Silent_p.L286L			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	286					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CGCTGAACCTCCTTCCCGAGG	0.667000													11	32					0	0	0.008291	0	0
TENM1	10178	broad.mit.edu	37	X	123871026	123871026	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chrX:123871026T>C	ENST00000422452.2	-	4	620	c.557A>G	c.(556-558)aAc>aGc	p.N186S	TENM1_ENST00000371130.3_Missense_Mutation_p.N186S	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GGTGAACTGGTTGTGTGGGCT	0.552000													11	16					0	0	0.008291	0	0
CNTN5	53942	broad.mit.edu	37	11	100141934	100141934	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:100141934C>T	ENST00000524871.1	+	18	2565	c.2275C>T	c.(2275-2277)Cca>Tca	p.P759S	CNTN5_ENST00000527185.1_Missense_Mutation_p.P759S|CNTN5_ENST00000279463.3_Missense_Mutation_p.P759S|CNTN5_ENST00000528682.1_Missense_Mutation_p.P759S|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.P685S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	759	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GACAGGAGATCCAAGCACCCC	0.463000													6	30					0	0	0.001168	0	0
VPS13D	55187	broad.mit.edu	37	1	12336378	12336378	+	Silent	SNP	T	T	G			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:12336378T>G	ENST00000358136.3	+	19	2863	c.2733T>G	c.(2731-2733)acT>acG	p.T911T	VPS13D_ENST00000356315.4_Silent_p.T911T	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	911					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CTTCTGACACTCAGATTAAAG	0.398000											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	28					0	0	0.001855	0	0
SUGP2	10147	broad.mit.edu	37	19	19114993	19114993	+	Silent	SNP	G	G	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:19114993G>T	ENST00000601879.1	-	7	3210	c.2913C>A	c.(2911-2913)ctC>ctA	p.L971L	SUGP2_ENST00000456085.2_Silent_p.L740L|SUGP2_ENST00000452918.2_Silent_p.L971L|SUGP2_ENST00000337018.6_Silent_p.L971L|SUGP2_ENST00000600377.1_Silent_p.L985L			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	971					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GCTCCTGGATGAGACACACTC	0.552000													17	73					1.45105e-14	1.81164e-14	0.006122	1	0
FRG1B	284802	broad.mit.edu	37	20	29628251	29628251	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr20:29628251A>G	ENST00000278882.3	+	6	633	c.253A>G	c.(253-255)Aat>Gat	p.N85D	FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D|FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D														p.N85D(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTGGCCTCAAATAGCTGCTT	0.358000													5	50					0	0	0.000602	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835842	12835842	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:12835842C>T	ENST00000357726.4	+	2	471	c.444C>T	c.(442-444)atC>atT	p.I148I		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	148										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	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;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGATGGTGATCCTAGACCTTT	0.547000													34	112					0	0	0.004289	0	0
CACNB4	785	broad.mit.edu	37	2	152698602	152698602	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:152698602C>T	ENST00000360283.6	-	12	1275	c.1017_splice	c.e12-1	p.E340_splice	CACNB4_ENST00000427385.1_Splice_Site_p.E355_splice|CACNB4_ENST00000397327.2_Splice_Site_p.E326_splice|CACNB4_ENST00000539935.1_Splice_Site_p.E373_splice|CACNB4_ENST00000201943.5_Intron|CACNB4_ENST00000534999.1_Splice_Site_p.E339_splice			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	373					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	TCAAACATTTCCTGTAGATGA	0.388000													9	21					0	0	0.006214	0	0
WEE2	494551	broad.mit.edu	37	7	141414188	141414188	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:141414188G>A	ENST00000397541.2	+	2	928	c.522G>A	c.(520-522)agG>agA	p.R174R	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	174					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GTGGCAAGAGGAAAATAAGAG	0.383000													13	50					0	0	0.001855	0	0
KIAA0247	9766	broad.mit.edu	37	14	70171398	70171398	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr14:70171398C>T	ENST00000342745.4	+	4	710	c.397C>T	c.(397-399)Ctc>Ttc	p.L133F		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	133						integral to membrane				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		GGCGCTCATTCTCCTCCTCGT	0.527000													14	43					0	0	0.001855	0	0
CPA3	1359	broad.mit.edu	37	3	148586813	148586813	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr3:148586813A>G	ENST00000296046.3	+	3	308	c.256A>G	c.(256-258)Aaa>Gaa	p.K86E	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	86					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GGATCAAAATAAAATGCACTA	0.413000													6	26					0	0	0.001168	0	0
NLRP4	147945	broad.mit.edu	37	19	56369884	56369884	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:56369884C>T	ENST00000301295.6	+	3	1547	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	NLRP4_ENST00000346986.5_Silent_p.F375F|NLRP4_ENST00000587891.1_Silent_p.F300F	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	375	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)		ACTCCTCTTTCGTCTTTAACC	0.572000													18	66					0	0	0.004990	0	0
SMPD1	6609	broad.mit.edu	37	11	6413100	6413100	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:6413100G>C	ENST00000342245.4	+	2	973	c.805G>C	c.(805-807)Gcc>Ccc	p.A269P	SMPD1_ENST00000527275.1_Missense_Mutation_p.A268P|SMPD1_ENST00000356761.2_Missense_Mutation_p.A269P|SMPD1_ENST00000299397.3_Missense_Mutation_p.A269P|SMPD1_ENST00000533196.1_Intron	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	267					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	GCTGGGCCCAGCCGGCCCTTT	0.642000													36	134					0	0	0.004289	0	0
NNT	23530	broad.mit.edu	37	5	43656142	43656142	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr5:43656142A>C	ENST00000264663.5	+	15	2481	c.2260A>C	c.(2260-2262)Agt>Cgt	p.S754R	NNT_ENST00000512996.2_Missense_Mutation_p.S623R|NNT_ENST00000344920.4_Missense_Mutation_p.S754R	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	754					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	CGTCACCTTTAGTGGGTCTCT	0.413000													20	49					0	0	0.014323	0	0
CYP2C19	1557	broad.mit.edu	37	10	96541683	96541683	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr10:96541683G>A	ENST00000371321.3	+	5	830	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	250					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GAAAGTAAAAGAACACCAAGA	0.338000													11	31					0	0	0.010729	0	0
IL4R	3566	broad.mit.edu	37	16	27374945	27374945	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr16:27374945C>T	ENST00000395762.2	+	11	2531	c.2272C>T	c.(2272-2274)Ccc>Tcc	p.P758S	IL4R_ENST00000170630.2_Missense_Mutation_p.P758S|IL4R_ENST00000380922.3_Missense_Mutation_p.P743S|IL4R_ENST00000543915.2_Missense_Mutation_p.P758S	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	758					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CCCTACAACCCCCCTGAGGGC	0.637000													21	37					0	0	0.008871	0	0
PTPRJ	5795	broad.mit.edu	37	11	48168491	48168491	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:48168491G>A	ENST00000418331.2	+	15	3327	c.2975G>A	c.(2974-2976)gGc>gAc	p.G992D		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	992					contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ACTGTGGGAGGCTTCATCTTC	0.408000													47	199					0	0	0.014410	0	0
ROS1	6098	broad.mit.edu	37	6	117683825	117683825	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:117683825G>A	ENST00000368508.3	-	21	3520	c.3322C>T	c.(3322-3324)Ccc>Tcc	p.P1108S	ROS1_ENST00000368507.3_Missense_Mutation_p.P1103S|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1108	Fibronectin type-III 5.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATCACTGAGGGAGTGACATTG	0.363000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								12	19					0	0	0.010729	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64747359	64747359	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr5:64747359C>T	ENST00000536360.1	-	7	1829	c.1016G>A	c.(1015-1017)gGa>gAa	p.G339E				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	339	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		AATGGTGTTTCCATCACTTTG	0.408000													16	21					0	0	0.004990	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744365	140744365	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr5:140744365C>T	ENST00000518069.1	+	1	468	c.468C>T	c.(466-468)ttC>ttT	p.F156F	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTTCCCTTCGCGCGGGATG	0.483000													16	23					0	0	0.004007	0	0
GPR31	2853	broad.mit.edu	37	6	167570978	167570978	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:167570978G>A	ENST00000366834.1	-	1	839	c.342C>T	c.(340-342)ctC>ctT	p.L114L		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	114						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		GGACCACACGGAGGTACCGGT	0.687000													8	30					0	0	0.003080	0	0
PDZD4	57595	broad.mit.edu	37	X	153073991	153073991	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chrX:153073991G>A	ENST00000164640.4	-	2	311	c.120C>T	c.(118-120)tcC>tcT	p.S40S	PDZD4_ENST00000393758.2_5'UTR|PDZD4_ENST00000544474.1_Intron|PDZD4_ENST00000475140.1_5'UTR	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	40						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCCTTGGAGGAGCGCAGGG	0.637000													6	4					0	0	0.001168	0	0
SNCAIP	9627	broad.mit.edu	37	5	121761093	121761093	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr5:121761093G>A	ENST00000504884.2	+	3	177	c.177G>A	c.(175-177)tgG>tgA	p.W59*	SNCAIP_ENST00000379536.2_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.G350E|SNCAIP_ENST00000261367.7_Missense_Mutation_p.G397E|SNCAIP_ENST00000379533.2_Missense_Mutation_p.G397E|SNCAIP_ENST00000503116.2_Missense_Mutation_p.G397E|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000542191.1_Intron			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	574					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GACGAAAATGGAAACAATCTA	0.433000													22	72					0	0	0.002780	0	0
STEAP2	261729	broad.mit.edu	37	7	89859333	89859333	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:89859333G>A	ENST00000287908.3	+	4	1561	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K	STEAP2_ENST00000394626.1_Missense_Mutation_p.E390K|STEAP2_ENST00000394621.2_Missense_Mutation_p.E390K|STEAP2_ENST00000402625.2_Missense_Mutation_p.E390K|STEAP2_ENST00000394632.1_Missense_Mutation_p.E390K|STEAP2_ENST00000394629.2_Missense_Mutation_p.E390K|STEAP2_ENST00000394622.2_Missense_Mutation_p.E390K	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	390	Ferric oxidoreductase.				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					AAACTGGAGAGAATTCAGTTT	0.383000													52	139					0	0	0.014410	0	0
CHD6	84181	broad.mit.edu	37	20	40033911	40033911	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr20:40033911G>A	ENST00000373233.3	-	37	7647	c.7470C>T	c.(7468-7470)atC>atT	p.I2490I	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2490					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CGGTGAGGGGGATGCCTGGCA	0.557000													18	68					0	0	0.007413	0	0
TFPI	7035	broad.mit.edu	37	2	188361801	188361801	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:188361801C>T	ENST00000233156.3	-	3	420	c.126G>A	c.(124-126)acG>acA	p.T42T	TFPI_ENST00000392365.1_Silent_p.T42T|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000339091.4_Silent_p.T42T|TFPI_ENST00000409676.1_Silent_p.T42T	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	42					blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	GTGGCAACTCCGTATCTATAA	0.303000													9	16					0	0	0.006214	0	0
SYNE1	23345	broad.mit.edu	37	6	152716712	152716712	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:152716712G>A	ENST00000367255.5	-	51	8252	c.7651C>T	c.(7651-7653)Cct>Tct	p.P2551S	SYNE1_ENST00000448038.1_Missense_Mutation_p.P2558S|SYNE1_ENST00000423061.1_Missense_Mutation_p.P2558S|SYNE1_ENST00000341594.5_Missense_Mutation_p.P2590S|SYNE1_ENST00000265368.4_Missense_Mutation_p.P2551S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2551					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTTCTCAGGAATGTGCTGT	0.403000										HNSCC(10;0.0054)			22	67					0	0	0.010504	0	0
CNNM4	26504	broad.mit.edu	37	2	97428012	97428012	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:97428012G>A	ENST00000377075.2	+	1	1374	c.1276G>A	c.(1276-1278)Gac>Aac	p.D426N		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	426	CBS 1.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CTACGTCAAAGACTTGGCCTT	0.498000													31	88					0	0	0.004878	0	0
CLEC4M	10332	broad.mit.edu	37	19	7830709	7830709	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:7830709G>A	ENST00000327325.5	+	4	518	c.400G>A	c.(400-402)Gag>Aag	p.E134K	CLEC4M_ENST00000596363.1_Missense_Mutation_p.E106K|CLEC4M_ENST00000359059.5_Splice_Site|CLEC4M_ENST00000357361.2_Missense_Mutation_p.E134K|CLEC4M_ENST00000394122.2_Missense_Mutation_p.E122K|CLEC4M_ENST00000597522.1_Missense_Mutation_p.E134K|CLEC4M_ENST00000596707.1_Missense_Mutation_p.E113K|CLEC4M_ENST00000595496.1_Missense_Mutation_p.E113K|CLEC4M_ENST00000248228.4_Intron|CLEC4M_ENST00000334806.5_Splice_Site	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	134	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CAAGCTGCAGGAGATCTACCA	0.577000													26	82					0	0	0.004878	0	0
BTBD7	55727	broad.mit.edu	37	14	93723590	93723590	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr14:93723590A>G	ENST00000334746.5	-	6	1866	c.1559T>C	c.(1558-1560)gTg>gCg	p.V520A	BTBD7_ENST00000554565.1_Missense_Mutation_p.V169A|BTBD7_ENST00000393170.2_Missense_Mutation_p.V94A	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	520										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TTCAATTCGCACAAAAGGTAA	0.413000													23	71					0	0	0.003330	0	0
HOXB1	3211	broad.mit.edu	37	17	46607154	46607154	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:46607154C>T	ENST00000239174.6	-	2	753	c.661G>A	c.(661-663)Gag>Aag	p.E221K	HOXB1_ENST00000577092.1_3'UTR	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	221						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AAATGGAACTCCTTTTCCAGT	0.602000													58	169					0	0	0.014410	0	0
DAGLA	747	broad.mit.edu	37	11	61503211	61503211	+	Splice_Site	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:61503211G>A	ENST00000257215.5	+	12	1329	c.1212_splice	c.e12-1	p.D405_splice		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	405					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TCTCCCCAAGGATGCCCTGAC	0.677000													4	15					0	0	0.009096	0	0
CMA1	1215	broad.mit.edu	37	14	24976699	24976699	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr14:24976699C>T	ENST00000250378.3	-	2	101	c.72G>A	c.(70-72)ggG>ggA	p.G24G	CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	24	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		ATTCTGTGCCCCCGATGATCT	0.493000													30	100					0	0	0.008361	0	0
MIEF2	125170	broad.mit.edu	37	17	18167115	18167115	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:18167115C>T	ENST00000395704.4	+	4	476	c.328C>T	c.(328-330)Cga>Tga	p.R110*	SMCR7_ENST00000577216.1_3'UTR|SMCR7_ENST00000323019.4_Silent_p.F134F|SMCR7_ENST00000395706.2_Silent_p.F145F|SMCR7_ENST00000578621.1_3'UTR			Q96C03	SMCR7_HUMAN		187						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					TGCTGGCCTTCGAGCGGGACC	0.622000													12	53					0	0	0.013537	0	0
SALL1	6299	broad.mit.edu	37	16	51172979	51172979	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr16:51172979G>A	ENST00000440970.1	-	2	3294	c.2863C>T	c.(2863-2865)Cag>Tag	p.Q955*	SALL1_ENST00000251020.4_Nonsense_Mutation_p.Q1052*|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1052					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCTCGCATCTGATGTGTCAAC	0.468000													9	24					0	0	0.004482	0	0
DNAH10	196385	broad.mit.edu	37	12	124416294	124416294	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr12:124416294G>A	ENST00000409039.3	+	74	12699	c.12674G>A	c.(12673-12675)gGa>gAa	p.G4225E	DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4225					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGCGCCTCGGAACAGGACTC	0.517000													12	72					0	0	0.003163	0	0
DNAH2	146754	broad.mit.edu	37	17	7710496	7710496	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:7710496C>T	ENST00000572933.1	+	62	10931	c.9471C>T	c.(9469-9471)atC>atT	p.I3157I	DNAH2_ENST00000389173.2_Silent_p.I3157I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3157	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGTCACTGATCAACTTTGATA	0.498000													32	128					0	0	0.010818	0	0
KIF19	124602	broad.mit.edu	37	17	72338125	72338125	+	Splice_Site	SNP	G	G	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:72338125G>T	ENST00000389916.4	+	3	369	c.231_splice	c.e3+1	p.Q77_splice		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	77	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCGCCACCCAGGTGAGGGAGG	0.667000													29	81					2.65835e-16	3.32892e-16	0.007291	1	0
SIGLEC8	27181	broad.mit.edu	37	19	51960800	51960800	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:51960800C>T	ENST00000321424.3	-	2	714	c.648G>A	c.(646-648)caG>caA	p.Q216Q	SIGLEC8_ENST00000430817.1_Intron|SIGLEC8_ENST00000340550.5_Intron	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	216	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGCCGTGGTCCTGGGGCTTTG	0.652000													12	47					0	0	0.010729	0	0
MANSC1	54682	broad.mit.edu	37	12	12483803	12483803	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr12:12483803G>A	ENST00000535902.1	-	4	1017	c.454C>T	c.(454-456)Ccc>Tcc	p.P152S	MANSC1_ENST00000545735.1_Missense_Mutation_p.P71S|MANSC1_ENST00000396349.3_Missense_Mutation_p.P118S			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	152						integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		TGGGCTAGGGGAGTGACTGCT	0.428000													19	66					0	0	0.010504	0	0
CPAMD8	27151	broad.mit.edu	37	19	17017764	17017764	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:17017764C>T	ENST00000443236.1	-	30	4197	c.4166G>A	c.(4165-4167)cGa>cAa	p.R1389Q		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1342						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACACCTACCTCGCATGATGGC	0.602000													4	13					0	0	0.009096	0	0
EMR1	2015	broad.mit.edu	37	19	6937272	6937272	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:6937272C>T	ENST00000312053.4	+	19	2437	c.2400C>T	c.(2398-2400)gcC>gcT	p.A800A	EMR1_ENST00000250572.8_Silent_p.A735A|EMR1_ENST00000381404.4_Silent_p.A781A|EMR1_ENST00000450315.3_Silent_p.A623A|EMR1_ENST00000381407.5_Silent_p.A659A	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	800					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CCTTCAAGGCCTTTGCCCAGC	0.537000													31	95					0	0	0.003271	0	0
AHNAK	79026	broad.mit.edu	37	11	62292211	62292211	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:62292211G>A	ENST00000378024.4	-	5	9952	c.9678C>T	c.(9676-9678)ctC>ctT	p.L3226L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3226					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTTAAGATTGAGGTCCAAAT	0.408000													42	71					0	0	0.006230	0	0
GP2	2813	broad.mit.edu	37	16	20335568	20335568	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr16:20335568G>A	ENST00000302555.5	-	3	254	c.105C>T	c.(103-105)aaC>aaT	p.N35N	GP2_ENST00000381360.5_Intron|GP2_ENST00000341642.5_Intron|GP2_ENST00000381362.4_Silent_p.N35N			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	35						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CTTCAATGGGGTTTCCATAAC	0.522000													11	40					0	0	0.010729	0	0
KIF1B	23095	broad.mit.edu	37	1	10425692	10425692	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:10425692G>A	ENST00000377086.1	+	43	4940	c.4738G>A	c.(4738-4740)Gag>Aag	p.E1580K	KIF1B_ENST00000263934.6_Missense_Mutation_p.E1534K|KIF1B_ENST00000377081.1_Missense_Mutation_p.E1580K			O60333	KIF1B_HUMAN	kinesin family member 1B	1580					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCGAGAGAAAGAGCTGGCTAC	0.493000													16	50					0	0	0.003163	0	0
RYR2	6262	broad.mit.edu	37	1	237791232	237791232	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:237791232C>T	ENST00000366574.2	+	41	6609	c.6292C>T	c.(6292-6294)Ctt>Ttt	p.L2098F	RYR2_ENST00000542537.1_Missense_Mutation_p.L2082F|RYR2_ENST00000360064.6_Missense_Mutation_p.L2096F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2098	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CATTGGGGGTCTTGTTCGGGC	0.572000													11	47					0	0	0.008291	0	0
ASXL3	80816	broad.mit.edu	37	18	31320012	31320012	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr18:31320012G>A	ENST00000269197.5	+	11	2644	c.2644G>A	c.(2644-2646)Gaa>Aaa	p.E882K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	882					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TTCACCATTGGAATTATCTGT	0.373000													13	60					0	0	0.001855	0	0
DLGAP2	9228	broad.mit.edu	37	8	1626557	1626557	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr8:1626557G>A	ENST00000421627.2	+	9	2360	c.2226G>A	c.(2224-2226)cgG>cgA	p.R742R	DLGAP2_ENST00000524065.1_3'UTR	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	821					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)		GAACTGTACGGACCCAGGGGC	0.632000													11	37					0	0	0.008291	0	0
EPHA4	2043	broad.mit.edu	37	2	222308288	222308288	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:222308288G>A	ENST00000281821.2	-	10	1854	c.1813C>T	c.(1813-1815)Ccc>Tcc	p.P605S	EPHA4_ENST00000392071.4_Missense_Mutation_p.P554S|EPHA4_ENST00000409938.1_Missense_Mutation_p.P605S|EPHA4_ENST00000409854.1_Missense_Mutation_p.P605S	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	605						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GCTTGGTTGGGATCTTCGTAC	0.398000													13	44					0	0	0.003163	0	0
CCDC108	255101	broad.mit.edu	37	2	219894256	219894256	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:219894256C>T	ENST00000341552.5	-	11	1602	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	CCDC108_ENST00000441968.1_Missense_Mutation_p.E507K|CCDC108_ENST00000453220.1_Missense_Mutation_p.E507K|CCDC108_ENST00000410037.1_Missense_Mutation_p.E442K|CCDC108_ENST00000409865.3_Missense_Mutation_p.E496K	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	507						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGACACTCTCCAAGCAGTCG	0.597000											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	58					0	0	0.006122	0	0
SPTB	6710	broad.mit.edu	37	14	65239370	65239370	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr14:65239370G>A	ENST00000389722.3	-	25	5534	c.5481C>T	c.(5479-5481)gaC>gaT	p.D1827D	SPTB_ENST00000556626.1_Silent_p.D1827D|SPTB_ENST00000542895.1_Silent_p.D1827D|SPTB_ENST00000389721.5_Silent_p.D1827D|SPTB_ENST00000389720.3_Silent_p.D1827D	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1827					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCGTGCTGGCGTCCAGCCCCA	0.682000													24	75					0	0	0.006320	0	0
NAA25	80018	broad.mit.edu	37	12	112499075	112499075	+	Silent	SNP	A	A	G			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr12:112499075A>G	ENST00000261745.4	-	12	1515	c.1267T>C	c.(1267-1269)Tta>Cta	p.L423L		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	423						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						AAGCCAAGTAACCTCGTCAGC	0.473000													15	28					0	0	0.002450	0	0
UGT2B15	7366	broad.mit.edu	37	4	69533889	69533889	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr4:69533889A>G	ENST00000338206.5	-	2	751	c.742T>C	c.(742-744)Ttt>Ctt	p.F248L		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	248					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										ATTGTCTCAAATAATGTAGTG	0.373000													22	65					0	0	0.006320	0	0
GFRAL	389400	broad.mit.edu	37	6	55216156	55216156	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:55216156G>A	ENST00000340465.2	+	5	562	c.476G>A	c.(475-477)gGa>gAa	p.G159E		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	159						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TCAGCAAATGGAAATCCGTGT	0.453000													60	141					0	0	0.014410	0	0
JPH1	56704	broad.mit.edu	37	8	75227537	75227537	+	Missense_Mutation	SNP	G	G	A	rs142292285	byFrequency	TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr8:75227537G>A	ENST00000342232.4	-	2	738	c.698C>T	c.(697-699)tCg>tTg	p.S233L		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	233	Ser-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GCGCTTGCTCGAGATGGAAGA	0.557000													20	103					0	0	0.008871	0	0
RELN	5649	broad.mit.edu	37	7	103338459	103338459	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:103338459C>T	ENST00000424685.2	-	10	1143	c.984G>A	c.(982-984)tgG>tgA	p.W328*	RELN_ENST00000428762.1_Nonsense_Mutation_p.W328*|RELN_ENST00000343529.5_Nonsense_Mutation_p.W328*			P78509	RELN_HUMAN	reelin	328					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTTCCTGCTTCCACTGAAATT	0.453000													33	109					0	0	0.010818	0	0
ASXL3	80816	broad.mit.edu	37	18	31323472	31323472	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr18:31323472C>T	ENST00000269197.5	+	12	3660	c.3660C>T	c.(3658-3660)acC>acT	p.T1220T		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1220	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TTTCATCTACCTCTTCTGAAA	0.383000													15	36					0	0	0.002450	0	0
FTH1P3	2498	broad.mit.edu	37	5	17354234	17354234	+	RNA	SNP	C	C	T	rs2652638	by1000genomes	TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr5:17354234C>T	ENST00000511821.1	+	0	101				FTH1P10_ENST00000401830.3_RNA																							CACACTCCATCGCATTCAGCC	0.468000													46	90					0	0	0.014410	0	0
CDON	50937	broad.mit.edu	37	11	125830842	125830842	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:125830842T>C	ENST00000392693.3	-	20	3986	c.3859A>G	c.(3859-3861)Acc>Gcc	p.T1287A	CDON_ENST00000531738.1_Missense_Mutation_p.T641A|CDON_ENST00000263577.7_Missense_Mutation_p.T1264A	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	1287					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TGTCCTCAGGTTTCCCGGGGC	0.537000													24	102					0	0	0.005443	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84603755	84603755	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr9:84603755C>G	ENST00000344803.2	+	1	69	c.22C>G	c.(22-24)Ctg>Gtg	p.L8V		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CCTCTGTTTTCTGAACAGCTA	0.493000													11	62					0	0	0.013537	0	0
DRD5	1816	broad.mit.edu	37	4	9784435	9784435	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr4:9784435C>T	ENST00000304374.2	+	1	1178	c.782C>T	c.(781-783)tCc>tTc	p.S261F		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	261					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	AGGATTTCCTCCCTGGAGAGG	0.627000													17	44					0	0	0.004007	0	0
OR6F1	343169	broad.mit.edu	37	1	247875470	247875470	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:247875470C>T	ENST00000302084.2	-	1	635	c.588G>A	c.(586-588)gaG>gaA	p.E196E	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	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;0.0168)			AGGCCACAAGCTCTACTGCCT	0.532000													70	82					0	0	0.014410	0	0
WBSCR17	64409	broad.mit.edu	37	7	70880973	70880973	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:70880973C>T	ENST00000333538.5	+	4	1322	c.688C>T	c.(688-690)Cgc>Tgc	p.R230C	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	230	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GATCCGCGCTCGCATTGAGGG	0.577000													15	64					0	0	0.003163	0	0
ARNTL	406	broad.mit.edu	37	11	13393916	13393916	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:13393916C>G	ENST00000389708.3	+	13	1382	c.1027C>G	c.(1027-1029)Cgg>Ggg	p.R343G	ARNTL_ENST00000403510.3_Missense_Mutation_p.R299G|ARNTL_ENST00000396441.3_Missense_Mutation_p.R342G|ARNTL_ENST00000403290.1_Missense_Mutation_p.R343G|ARNTL_ENST00000403482.3_Missense_Mutation_p.R341G|ARNTL_ENST00000361003.4_Intron|ARNTL_ENST00000401424.1_Missense_Mutation_p.R300G|ARNTL_ENST00000497429.1_3'UTR|ARNTL_ENST00000389707.4_Missense_Mutation_p.R342G			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	343	PAS 2.				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		ATATGTTTCTCGGCACGCGAT	0.443000													18	47					0	0	0.007413	0	0
ARID5A	10865	broad.mit.edu	37	2	97213176	97213176	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:97213176G>A	ENST00000357485.3	+	2	120	c.42G>A	c.(40-42)gaG>gaA	p.E14E	ARID5A_ENST00000454558.2_5'UTR	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	14					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						AGTCCACGGAGGGTGACGCCC	0.587000													13	33					0	0	0.003163	0	0
PLCB4	5332	broad.mit.edu	37	20	9404476	9404476	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr20:9404476C>T	ENST00000378501.2	+	24	2380	c.2365C>T	c.(2365-2367)Ctt>Ttt	p.L789F	PLCB4_ENST00000278655.4_Missense_Mutation_p.L789F|PLCB4_ENST00000414679.2_Missense_Mutation_p.L801F|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.L789F|PLCB4_ENST00000378473.3_Missense_Mutation_p.L801F|PLCB4_ENST00000334005.3_Missense_Mutation_p.L789F	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	789					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GATCCTCCCGCTTGATGGCCT	0.448000													8	24					0	0	0.003080	0	0
OR2M3	127062	broad.mit.edu	37	1	248367008	248367008	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:248367008C>T	ENST00000456743.1	+	1	677	c.639C>T	c.(637-639)atC>atT	p.I213I		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTGTTGCAATCATCATTGCTT	0.428000													101	194					0	0	0.014410	0	0
KIF21B	23046	broad.mit.edu	37	1	200946489	200946489	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:200946489C>T	ENST00000332129.2	-	30	4453	c.4137G>A	c.(4135-4137)gtG>gtA	p.V1379V	KIF21B_ENST00000461742.2_Silent_p.V1392V|KIF21B_ENST00000422435.2_Silent_p.V1392V|KIF21B_ENST00000360529.5_Silent_p.V1379V	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1392					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCCCTGAGATCACCTGGCCCG	0.582000													20	105					0	0	0.010504	0	0
TTN	7273	broad.mit.edu	37	2	179554041	179554041	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:179554041C>T	ENST00000589042.1	-	124	32211	c.31987G>A	c.(31987-31989)Gaa>Aaa	p.E10663K	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E9419K|TTN_ENST00000591111.1_Missense_Mutation_p.E10346K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10346	Glu-rich.|Pro-rich.						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)			GGAACTTCTTCCTCCTTCCGA	0.378000													10	53					0	0	0.008291	0	0
TRPC3	7222	broad.mit.edu	37	4	122846184	122846184	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr4:122846184C>T	ENST00000264811.5	-	2	1364	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	TRPC3_ENST00000513531.1_Missense_Mutation_p.E316K|TRPC3_ENST00000379645.3_Missense_Mutation_p.E389K	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	304					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TTTTTGACTTCATACTTAATG	0.383000													24	53					0	0	0.003954	0	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													3	56					0	0	0.004672	0	0
OTC	5009	broad.mit.edu	37	X	38262956	38262956	+	Missense_Mutation	SNP	C	C	T	rs72558417		TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chrX:38262956C>T	ENST00000039007.4	+	6	778	c.626C>T	c.(625-627)gCg>gTg	p.A209V	TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	209			A -> V (in OTCD; neonatal).		arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	ATGAGCGCAGCGAAATTCGGA	0.478000													23	25					0	0	0.014323	0	0
SPTBN4	57731	broad.mit.edu	37	19	41026059	41026059	+	Splice_Site	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:41026059G>A	ENST00000352632.3	+	16	3740		c.e16+1		SPTBN4_ENST00000595535.1_Splice_Site|SPTBN4_ENST00000598249.1_Splice_Site|SPTBN4_ENST00000338932.3_Splice_Site|SPTBN4_ENST00000344104.3_Splice_Site			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4						actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCGTAACCAGGTGCCCACTCG	0.677000													10	22					0	0	0.006214	0	0
SELP	6403	broad.mit.edu	37	1	169580798	169580798	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:169580798A>C	ENST00000263686.6	-	7	1116	c.1079T>G	c.(1078-1080)gTg>gGg	p.V360G	SELP_ENST00000367788.2_Missense_Mutation_p.V298G|SELP_ENST00000367794.2_Intron|SELP_ENST00000367791.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.V298G|SELP_ENST00000367792.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367786.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	360	Sushi 3.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CAAGCCCCTCACTCTGTAGCC	0.537000													33	102					0	0	0.012213	0	0
SLC26A3	1811	broad.mit.edu	37	7	107431496	107431496	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:107431496G>A	ENST00000340010.5	-	5	751	c.567C>T	c.(565-567)atC>atT	p.I189I	SLC26A3_ENST00000422236.2_Silent_p.I154I	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	189					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TGCTCACCTGGATGATTCCAG	0.507000													7	18					0	0	0.001984	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854245	12854245	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:12854245G>A	ENST00000332296.7	+	3	572	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	157										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)		CTGCCTCAAGGAAATACCCCA	0.493000													55	282					0	0	0.014410	0	0
OR4K17	390436	broad.mit.edu	37	14	20586324	20586324	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr14:20586324C>T	ENST00000315543.4	+	1	759	c.759C>T	c.(757-759)ctC>ctT	p.L253L		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GTCTGATCCTCATAACCATTA	0.423000													20	77					0	0	0.008871	0	0
SCN4A	6329	broad.mit.edu	37	17	62045702	62045702	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:62045702G>A	ENST00000435607.1	-	6	793	c.717C>T	c.(715-717)atC>atT	p.I239I	SCN4A_ENST00000578147.1_Silent_p.I239I	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	239					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGGCCCCCACGATCGTCTTCA	0.602000													21	33					0	0	0.012319	0	0
TMTC2	160335	broad.mit.edu	37	12	83251132	83251132	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr12:83251132G>T	ENST00000549919.1	+	3	2214	c.409G>T	c.(409-411)Ggg>Tgg	p.G137W	TMTC2_ENST00000548305.1_Missense_Mutation_p.G143W|TMTC2_ENST00000321196.3_Missense_Mutation_p.G143W			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	143						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						AGCCGATGTCGGGGCCAGTCT	0.547000													11	27					2.27731e-05	2.81791e-05	0.012319	1	0
ALX3	257	broad.mit.edu	37	1	110603566	110603566	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:110603566T>G	ENST00000369792.4	-	4	908	c.821A>C	c.(820-822)tAt>tCt	p.Y274S	RP4-773N10.4_ENST00000596959.1_RNA|RP4-773N10.4_ENST00000554749.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	274						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGGGTGGGAATATGGAGACAT	0.642000													5	23					0	0	0.000602	0	0
CACNG5	27091	broad.mit.edu	37	17	64880639	64880639	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:64880639C>T	ENST00000533854.1	+	5	668	c.431C>T	c.(430-432)tCt>tTt	p.S144F	CACNG5_ENST00000169565.3_Missense_Mutation_p.S144F|CACNG5_ENST00000307139.3_Missense_Mutation_p.S144F			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	144					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CCAGGCCTCTCTCTCGTGGTG	0.567000													18	56					0	0	0.008871	0	0
ZPLD1	131368	broad.mit.edu	37	3	102196382	102196382	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr3:102196382C>T	ENST00000306176.1	+	11	1316	c.1216C>T	c.(1216-1218)Ctg>Ttg	p.L406L	ZPLD1_ENST00000466937.1_Silent_p.L390L|ZPLD1_ENST00000491959.1_Silent_p.L390L	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	390						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TTCTCTTCTTCTGTGCTCACT	0.488000													56	146					0	0	0.014410	0	0
ASB10	136371	broad.mit.edu	37	7	150883923	150883923	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:150883923G>A	ENST00000422024.1	-	1	555	c.430C>T	c.(430-432)Cgc>Tgc	p.R144C	ASB10_ENST00000420175.2_Missense_Mutation_p.R99C|ASB10_ENST00000275838.1_Missense_Mutation_p.R99C|ASB10_ENST00000434669.1_Missense_Mutation_p.R144C|ASB10_ENST00000377867.3_Intron	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	99					intracellular signal transduction			p.R99C(2)		NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATGTTGAAGCGGAAATCCCTC	0.637000													5	27					0	0	0.000602	0	0
GALNT5	11227	broad.mit.edu	37	2	158115963	158115963	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:158115963A>T	ENST00000259056.4	+	1	1854	c.1369A>T	c.(1369-1371)Aga>Tga	p.R457*		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	457					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GGAGGCAGAAAGAAGATGGAA	0.478000													13	56					0	0	0.013537	0	0
GRIP2	80852	broad.mit.edu	37	3	14552688	14552688	+	RNA	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr3:14552688C>T	ENST00000273083.3	-	0	1982							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TTGTCCTCGTCCTTCCGGATC	0.597000													7	24					0	0	0.001984	0	0
GRM7	2917	broad.mit.edu	37	3	7728062	7728062	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr3:7728062G>A	ENST00000486284.1	+	10	2991	c.2717G>A	c.(2716-2718)aGa>aAa	p.R906K	GRM7_ENST00000402647.2_Missense_Mutation_p.R906K|GRM7_ENST00000357716.4_Intron|GRM7_ENST00000403881.1_Intron|GRM7_ENST00000389336.4_Intron	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	0					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)	CCACCAGTAAGAAAGAGTGTA	0.294000													9	41					0	0	0.010729	0	0
ADAM7	8756	broad.mit.edu	37	8	24350600	24350600	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr8:24350600C>T	ENST00000175238.6	+	16	1783	c.1700C>T	c.(1699-1701)tCc>tTc	p.S567F	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.S567F|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.S339F|RP11-561E1.1_ENST00000519364.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	567	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GGGGAGCTTTCCTCTCTCCTT	0.393000													19	63					0	0	0.012319	0	0
PRDM9	56979	broad.mit.edu	37	5	23527787	23527787	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr5:23527787G>A	ENST00000296682.3	+	11	2772	c.2590G>A	c.(2590-2592)Gag>Aag	p.E864K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	864					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						CGTCTGCAGGGAGTGTGGGCG	0.582000										HNSCC(3;0.000094)			24	86					0	0	0.003330	0	0
KMT2C	58508	broad.mit.edu	37	7	151962163	151962163	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:151962163C>T	ENST00000355193.2	-	8	1362	c.1144G>A	c.(1144-1146)Ggt>Agt	p.G382S	KMT2C_ENST00000262189.6_Missense_Mutation_p.G382S					lysine (K)-specific methyltransferase 2C																		CATTGCCAACCTGCACGTTTT	0.443000													9	223					0	0	0.010729	0	0
LEO1	123169	broad.mit.edu	37	15	52230438	52230438	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr15:52230438T>C	ENST00000299601.5	-	12	1976	c.1916A>G	c.(1915-1917)aAg>aGg	p.K639R	LEO1_ENST00000315141.5_Missense_Mutation_p.K579R	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	639					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		TGCTTTTCTCTTTCCGGAAGG	0.323000													4	11					0	0	0.000602	0	0
WFDC8	90199	broad.mit.edu	37	20	44190781	44190781	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr20:44190781C>T	ENST00000357199.4	-	2	182	c.104G>A	c.(103-105)tGg>tAg	p.W35*	WFDC8_ENST00000289953.2_Nonsense_Mutation_p.W35*	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	35						extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				TGCAGAAGTCCACTCCAAAGC	0.478000													8	31					0	0	0.006214	0	0
OR4P4	81300	broad.mit.edu	37	11	55406375	55406375	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:55406375C>T	ENST00000314612.2	+	1	542	c.542C>T	c.(541-543)cCt>cTt	p.P181L		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GATGTGTATCCTTTGCTGAAA	0.388000													7	52					0	0	0.001984	0	0
COL11A1	1301	broad.mit.edu	37	1	103405961	103405961	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:103405961C>T	ENST00000358392.2	-	43	3659	c.3342G>A	c.(3340-3342)ggG>ggA	p.G1114G	COL11A1_ENST00000512756.1_Silent_p.G986G|COL11A1_ENST00000370096.3_Silent_p.G1102G|COL11A1_ENST00000353414.4_Silent_p.G1063G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1102	Triple-helical region.		Missing (in STL2).		collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTCCATCTCTCCCTGCAGGCC	0.478000													19	63					0	0	0.008871	0	0
ADAM28	10863	broad.mit.edu	37	8	24167701	24167701	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr8:24167701G>C	ENST00000265769.4	+	4	363	c.253G>C	c.(253-255)Gaa>Caa	p.E85Q	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000437154.2_Missense_Mutation_p.E85Q|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	85					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AGGCTACACGGAAACATATTA	0.398000													3	14					0	0	0.009096	0	0
PCLO	27445	broad.mit.edu	37	7	82451966	82451966	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:82451966G>A	ENST00000423517.2	-	20	14973	c.14636C>T	c.(14635-14637)cCt>cTt	p.P4879L	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Missense_Mutation_p.P4879L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4741					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGAGCTACCAGGACTACTATG	0.468000													60	187					0	0	0.014410	0	0
SLC8B1	80024	broad.mit.edu	37	12	113748108	113748108	+	Silent	SNP	G	G	A	rs138371135		TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr12:113748108G>A	ENST00000552014.1	-	13	1703	c.1188C>T	c.(1186-1188)atC>atT	p.I396I	SLC24A6_ENST00000546737.1_Silent_p.I340I|SLC24A6_ENST00000553238.1_5'UTR|SLC24A6_ENST00000202831.3_Silent_p.I396I			Q6J4K2	NCKX6_HUMAN		396					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	p.I396I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CTGTGCCTGCGATCACCACCA	0.587000													24	58					0	0	0.003954	0	0
ZNF174	7727	broad.mit.edu	37	16	3454957	3454957	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr16:3454957C>T	ENST00000344823.5	+	3	1435	c.674C>T	c.(673-675)cCa>cTa	p.P225L	ZNF174_ENST00000572544.1_3'UTR|ZNF174_ENST00000571936.1_Intron|ZNF174_ENST00000575752.1_Missense_Mutation_p.P225L|LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000268655.4_Intron	NM_001032292.2	NP_001027463.1	Q15697	ZN174_HUMAN	zinc finger protein 174	0					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						GATGAACTTCCATGCAAGCTA	0.403000													9	40					0	0	0.006214	0	0
PAPPA2	60676	broad.mit.edu	37	1	176679284	176679284	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:176679284C>T	ENST00000367662.3	+	11	4787	c.3623C>T	c.(3622-3624)tCc>tTc	p.S1208F		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1208					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGTCCTGTTTCCTTGGTAACT	0.463000													21	93					0	0	0.003330	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23054697	23054697	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr8:23054697C>T	ENST00000221132.3	-	9	1099	c.1035G>A	c.(1033-1035)ggG>ggA	p.G345G		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	345					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		TCCTCTGAGACCCTTCAGCTT	0.557000													30	76					0	0	0.009535	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75560500	75560500	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr10:75560500G>A	ENST00000604729.1	+	24	5402	c.5105G>A	c.(5104-5106)gGg>gAg	p.G1702E	ZSWIM8_ENST00000603114.1_Missense_Mutation_p.G1664E|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.G1523E|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.G1710E|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.G1705E					zinc finger, SWIM-type containing 8																		TGGTTGCTGGGGCTGGCAGCA	0.612000													15	21					0	0	0.004007	0	0
BTBD7	55727	broad.mit.edu	37	14	93712562	93712562	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr14:93712562C>T	ENST00000334746.5	-	10	2499	c.2192G>A	c.(2191-2193)gGg>gAg	p.G731E	BTBD7_ENST00000554565.1_Missense_Mutation_p.G380E|BTBD7_ENST00000393170.2_Missense_Mutation_p.G305E	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	731										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GCGACATCTCCCAGGCTGTCT	0.443000													42	141					0	0	0.007835	0	0
LACE1	246269	broad.mit.edu	37	6	108687531	108687531	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:108687531C>A	ENST00000368977.4	+	6	929	c.743C>A	c.(742-744)cCg>cAg	p.P248Q		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	248							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		AACAGGCCACCGGAAGGTAAA	0.373000													3	34					0.004672	0.00571327	0.004672	1	0
DUOX2	50506	broad.mit.edu	37	15	45401086	45401086	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr15:45401086G>A	ENST00000389039.6	-	12	1684	c.1299C>T	c.(1297-1299)ggC>ggT	p.G433G	DUOX2_ENST00000603300.1_Silent_p.G433G			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	433	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CCATATCTCGGCCACGTTGGA	0.567000													30	65					0	0	0.009535	0	0
EFHD2	79180	broad.mit.edu	37	1	15752487	15752487	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:15752487C>T	ENST00000375980.4	+	2	506	c.429C>T	c.(427-429)gaC>gaT	p.D143D		NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN	EF-hand domain family, member D2	143	EF-hand 2.					membrane raft				large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TGGATGAGGACTTTGACAGCA	0.592000													12	58					0	0	0.010729	0	0
MAG	4099	broad.mit.edu	37	19	35801452	35801452	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:35801452C>T	ENST00000361922.4	+	9	1672	c.1522C>T	c.(1522-1524)Cga>Tga	p.R508*	MAG_ENST00000537831.2_Nonsense_Mutation_p.R483*|MAG_ENST00000593348.1_3'UTR|MAG_ENST00000392213.3_Nonsense_Mutation_p.R508*	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	508	Ig-like C2-type 4.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GTCCTCAGATCGACTGATGTG	0.562000													12	44					0	0	0.010729	0	0
VWA7	80737	broad.mit.edu	37	6	31735259	31735259	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:31735259G>A	ENST00000375686.3	-	12	1906	c.1669C>T	c.(1669-1671)Cct>Tct	p.P557S	VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375688.4_Missense_Mutation_p.P557S|VWA7_ENST00000447450.1_Missense_Mutation_p.P557S	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	557						extracellular region											TGACCTAGAGGACCCCCGCCT	0.582000													93	232					0	0	0.014410	0	0
C16orf46	123775	broad.mit.edu	37	16	81095571	81095571	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr16:81095571C>T	ENST00000378611.4	-	3	498	c.383G>A	c.(382-384)aGc>aAc	p.S128N	C16orf46_ENST00000444657.3_5'UTR|C16orf46_ENST00000299578.5_Missense_Mutation_p.S128N|RP11-303E16.8_ENST00000564536.1_RNA	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	128										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						GGAGGGGCTGCTCTGATCCTT	0.602000													41	103					0	0	0.006230	0	0
RPTOR	57521	broad.mit.edu	37	17	78867523	78867523	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:78867523G>A	ENST00000306801.3	+	20	2621	c.2259G>A	c.(2257-2259)gcG>gcA	p.A753A	RPTOR_ENST00000544334.2_Silent_p.A595A|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	753					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GCGCGGTGGCGTTCTCCCCCG	0.607000													21	38					0	0	0.008871	0	0
TMEM125	128218	broad.mit.edu	37	1	43739005	43739005	+	Silent	SNP	T	T	C			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:43739005T>C	ENST00000432792.2	+	4	1182	c.612T>C	c.(610-612)tcT>tcC	p.S204S	TMEM125_ENST00000439858.1_Silent_p.S204S			Q96AQ2	TM125_HUMAN	transmembrane protein 125	204						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GACAGTTGTCTGCTGGCCGGC	0.632000													8	24					0	0	0.003080	0	0
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V														p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000													3	51					0	0	0.009096	0	0
MDGA2	161357	broad.mit.edu	37	14	47504453	47504453	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr14:47504453C>T	ENST00000426342.1	-	8	1432	c.686G>A	c.(685-687)gGa>gAa	p.G229E	MDGA2_ENST00000357362.3_Missense_Mutation_p.G229E|MDGA2_ENST00000399232.2_Missense_Mutation_p.G527E|MDGA2_ENST00000439988.2_Missense_Mutation_p.G458E	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	458	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						TATTGTGTCTCCTTCTCTGGT	0.398000													26	62					0	0	0.005443	0	0
CREBBP	1387	broad.mit.edu	37	16	3828061	3828061	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr16:3828061C>T	ENST00000262367.5	-	10	2873	c.2064G>A	c.(2062-2064)ccG>ccA	p.P688P	CREBBP_ENST00000382070.3_Silent_p.P650P	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	688					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	p.A690fs*5(1)		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)		GCTGAGCCCCCGGGGCTGGTA	0.483000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						60	156					0	0	0.014410	0	0
CR1	1378	broad.mit.edu	37	1	207737264	207737264	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:207737264C>A	ENST00000367049.4	+	22	3642	c.3642C>A	c.(3640-3642)gaC>gaA	p.D1214E	CR1_ENST00000367053.1_Missense_Mutation_p.D764E|CR1_ENST00000367052.1_Intron|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.D764E|CR1_ENST00000400960.2_Missense_Mutation_p.D764E	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	764	Sushi 19.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GGGACAAGGACAACTTTTCAC	0.547000													12	96					0.00152264	0.00187298	0.010504	1	0
PRR14	78994	broad.mit.edu	37	16	30664259	30664259	+	Silent	SNP	T	T	C			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr16:30664259T>C	ENST00000542965.2	+	4	795	c.339T>C	c.(337-339)tgT>tgC	p.C113C	PRR14_ENST00000300835.4_Silent_p.C113C			Q9BWN1	PRR14_HUMAN	proline rich 14	113	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			TGTGTTTGTGTCGCGAGCCCT	0.627000													15	48					0	0	0.004990	0	0
BCKDHA	593	broad.mit.edu	37	19	41916548	41916548	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:41916548C>T	ENST00000269980.2	+	2	483	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S	BCKDHA_ENST00000595085.1_Missense_Mutation_p.P73S|BCKDHA_ENST00000457836.2_Intron|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.P73S	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	39			P -> H (in dbSNP:rs34589432).		branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding	p.P39T(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CCAGCACCCCCCCAGGCAGCA	0.607000													15	49					0	0	0.007413	0	0
PELP1	27043	broad.mit.edu	37	17	4576337	4576337	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:4576337G>A	ENST00000301396.4	-	16	2606	c.2381C>T	c.(2380-2382)cCa>cTa	p.P794L	PELP1_ENST00000436683.2_Missense_Mutation_p.P503L|PELP1_ENST00000269230.7_Missense_Mutation_p.P562L|PELP1_ENST00000574876.1_Missense_Mutation_p.P650L|PELP1_ENST00000572293.1_Missense_Mutation_p.P700L			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	650	Pro-rich.				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						AGGGGGAACTGGAGCAGGTGT	0.682000													14	49					0	0	0.001855	0	0
PDILT	204474	broad.mit.edu	37	16	20380984	20380984	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr16:20380984C>T	ENST00000302451.4	-	8	1194	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	316					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.E316K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTCTGGGTTCGTCTGCATCC	0.473000													24	66					0	0	0.003330	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3682122	3682122	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr20:3682122G>A	ENST00000344754.4	-	6	1394	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F	SIGLEC1_ENST00000202578.4_Silent_p.F465F	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	465	Ig-like C2-type 4.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGGTACCACTGAAGCGTGGGC	0.602000													32	66					0	0	0.010818	0	0
HECTD4	283450	broad.mit.edu	37	12	112631297	112631297	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr12:112631297C>T	ENST00000550722.1	-	57	8888	c.8493G>A	c.(8491-8493)acG>acA	p.T2831T	HECTD4_ENST00000377560.5_Silent_p.T2805T|HECTD4_ENST00000430131.2_Silent_p.T2555T	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		AGATCTGTTTCGTCAGCTCTA	0.517000													4	14					0	0	0.000602	0	0
BAGE2	85319	broad.mit.edu	37	21	11049490	11049490	+	RNA	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr21:11049490C>T	ENST00000470054.1	-	0	618									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATTGCCAACCTGCACGTTTT	0.448000													5	90					0	0	0.001984	0	0
BSND	7809	broad.mit.edu	37	1	55465016	55465016	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:55465016A>C	ENST00000371265.4	+	1	411	c.157A>C	c.(157-159)Atg>Ctg	p.M53L		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	53						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						CATCTGGAGCATGTGCCAGTG	0.632000													17	47					0	0	0.007413	0	0
OR5P2	120065	broad.mit.edu	37	11	7818469	7818469	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:7818469C>T	ENST00000329434.2	-	1	51	c.21G>A	c.(19-21)ggG>ggA	p.G7G	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	7			G -> R (in dbSNP:rs1482804).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGGTGTGATTCCCGTCCTTCA	0.428000													8	41					0	0	0.003080	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917490	48917490	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:48917490G>A	ENST00000311378.4	+	2	1369	c.841G>A	c.(841-843)Gat>Aat	p.D281N	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.D188N	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	281	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CCAGCTGCAGGATGCTGGGAT	0.622000													21	40					0	0	0.012319	0	0
BCL11B	64919	broad.mit.edu	37	14	99640620	99640620	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr14:99640620C>T	ENST00000345514.2	-	3	2606	c.2340G>A	c.(2338-2340)aaG>aaA	p.K780K	BCL11B_ENST00000357195.3_Silent_p.K851K|BCL11B_ENST00000443726.2_Silent_p.K657K	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	851						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGTACACCTCCTTGCCGATCT	0.602000			T	TLX3	T-ALL								13	27					0	0	0.001855	0	0
FREM1	158326	broad.mit.edu	37	9	14859389	14859389	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr9:14859389C>T	ENST00000380881.4	-	5	1238	c.423G>A	c.(421-423)gtG>gtA	p.V141V	FREM1_ENST00000422223.2_Silent_p.V141V|FREM1_ENST00000380880.3_Silent_p.V141V			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	141					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCACCTCCAGCACATTGTTAC	0.428000													43	85					0	0	0.010771	0	0
HNRNPA3	220988	broad.mit.edu	37	2	178080485	178080485	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:178080485G>A	ENST00000411529.2	+	3	188	c.137G>A	c.(136-138)aGa>aAa	p.R46K	HNRNPA3_ENST00000392524.2_Missense_Mutation_p.R68K|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.R68K	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	68	RRM 1.					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						TAGGTAATGAGAGACCCCCAA	0.428000													17	51					0	0	0.006122	0	0
BMX	660	broad.mit.edu	37	X	15544165	15544165	+	Splice_Site	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chrX:15544165G>A	ENST00000357607.2	+	9	1019	c.830_splice	c.e9-1	p.W277_splice	BMX_ENST00000342014.6_Splice_Site_p.W277_splice|BMX_ENST00000348343.6_Splice_Site_p.W277_splice			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	277					cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					TCTTCTTAAGGGAATTCCCTG	0.388000													10	28					0	0	0.008291	0	0
SART3	9733	broad.mit.edu	37	12	108919970	108919970	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr12:108919970G>A	ENST00000228284.3	-	16	2510	c.2276C>T	c.(2275-2277)gCc>gTc	p.A759V	SART3_ENST00000431469.2_Missense_Mutation_p.A723V	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	759	RRM 1.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						TGCCTGAAGGGCTGATTTCTC	0.512000									Porokeratosis				29	91					0	0	0.007291	0	0
BSN	8927	broad.mit.edu	37	3	49693943	49693943	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr3:49693943C>T	ENST00000296452.4	+	5	7068	c.6954C>T	c.(6952-6954)gcC>gcT	p.A2318A		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2318					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)		CCCCTGCTGCCATCAAGGAGG	0.687000													10	28					0	0	0.008291	0	0
FXYD3	5349	broad.mit.edu	37	19	35611987	35611987	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:35611987C>T	ENST00000435734.2	+	5	305	c.46C>T	c.(46-48)Cct>Tct	p.P16S	FXYD3_ENST00000604621.1_Missense_Mutation_p.P16S|FXYD3_ENST00000344013.6_Missense_Mutation_p.P16S|FXYD3_ENST00000454903.2_Missense_Mutation_p.P16S|FXYD3_ENST00000604404.1_Missense_Mutation_p.P16S|FXYD3_ENST00000603524.1_Missense_Mutation_p.P16S|FXYD3_ENST00000406988.1_Missense_Mutation_p.P16S|FXYD3_ENST00000604255.1_Missense_Mutation_p.P73S|FXYD3_ENST00000346446.5_Missense_Mutation_p.P16S|FXYD3_ENST00000603449.1_Missense_Mutation_p.P16S|FXYD3_ENST00000535103.1_Missense_Mutation_p.P73S|FXYD3_ENST00000605550.1_Missense_Mutation_p.P16S|FXYD3_ENST00000605552.1_Missense_Mutation_p.P16S|FXYD3_ENST00000605677.1_Missense_Mutation_p.P16S|FXYD3_ENST00000406242.3_Missense_Mutation_p.P16S|FXYD3_ENST00000604804.1_Missense_Mutation_p.P16S|FXYD3_ENST00000603181.1_Missense_Mutation_p.P16S	NM_001136011.1|NM_021910.2	NP_001129483.1|NP_068710.1	Q14802	FXYD3_HUMAN	FXYD domain containing ion transport regulator 3	16						chloride channel complex|integral to plasma membrane	chloride channel activity			endometrium(1)|lung(2)|prostate(1)	4	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			ACTAGGCTTTCCTGTCCTGGA	0.612000													16	39					0	0	0.004007	0	0
VPS13B	157680	broad.mit.edu	37	8	100789097	100789097	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr8:100789097C>T	ENST00000358544.2	+	41	7528	c.7417C>T	c.(7417-7419)Cca>Tca	p.P2473S	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.P2448S	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2473					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTGCTTTACCCCATGGTTTGT	0.483000													33	99					0	0	0.013726	0	0
NFIX	4784	broad.mit.edu	37	19	13136228	13136228	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:13136228C>T	ENST00000358552.3	+	1	418	c.418C>T	c.(418-420)Ccc>Tcc	p.P140S	NFIX_ENST00000360105.4_Missense_Mutation_p.P144S|NFIX_ENST00000397661.2_Missense_Mutation_p.P141S|NFIX_ENST00000588228.1_Missense_Mutation_p.P94S|NFIX_ENST00000587260.1_Missense_Mutation_p.P140S|NFIX_ENST00000592199.1_Missense_Mutation_p.P141S|NFIX_ENST00000585575.1_Missense_Mutation_p.P133S|NFIX_ENST00000587760.1_Missense_Mutation_p.P133S			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	141					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			TAAGGGGATCCCCCTGGAAAG	0.587000													9	32					0	0	0.006214	0	0
ACTG2	72	broad.mit.edu	37	2	74135895	74135895	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr2:74135895G>A	ENST00000409624.1	+	5	994	c.351G>A	c.(349-351)agG>agA	p.R117R	ACTG2_ENST00000409731.3_Silent_p.R74R|ACTG2_ENST00000345517.3_Silent_p.R117R			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	117					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						AGGCCAACAGGGAAAAGATGA	0.507000													5	22					0	0	0.000602	0	0
OR4M1	441670	broad.mit.edu	37	14	20248811	20248811	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr14:20248811G>A	ENST00000315957.4	+	1	411	c.330G>A	c.(328-330)tcG>tcA	p.S110S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S110S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGGGGCTTCGGAGATGTTCT	0.483000													44	292					0	0	0.010771	0	0
NPAP1	23742	broad.mit.edu	37	15	24922085	24922085	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr15:24922085C>T	ENST00000329468.2	+	1	1545	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CTGCTAAGCTCCCCTGCCTGT	0.527000													11	33					0	0	0.010729	0	0
AADACL4	343066	broad.mit.edu	37	1	12726684	12726684	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:12726684C>T	ENST00000376221.1	+	4	1162	c.1162C>T	c.(1162-1164)Ctc>Ttc	p.L388F		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	388						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TAAGAAGGCTCTCTCTTTCCC	0.478000													15	70					0	0	0.004990	0	0
DNAH2	146754	broad.mit.edu	37	17	7720944	7720944	+	Silent	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:7720944C>T	ENST00000572933.1	+	66	11546	c.10086C>T	c.(10084-10086)acC>acT	p.T3362T	DNAH2_ENST00000389173.2_Silent_p.T3362T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3362	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCAATCCTACCAAAGTCCGGG	0.547000													39	70					0	0	0.005524	0	0
TNNT3	7140	broad.mit.edu	37	11	1955597	1955597	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:1955597G>A	ENST00000381558.1	+	11	657	c.378G>A	c.(376-378)aaG>aaA	p.K126K	TNNT3_ENST00000381561.4_Silent_p.K137K|TNNT3_ENST00000397301.1_Silent_p.K145K|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381549.3_Silent_p.K126K|TNNT3_ENST00000278317.6_Silent_p.K134K|TNNT3_ENST00000381579.3_Silent_p.K126K|TNNT3_ENST00000397304.2_Silent_p.K115K|TNNT3_ENST00000381548.3_Silent_p.K136K|TNNT3_ENST00000446240.1_Silent_p.K115K|TNNT3_ENST00000381589.3_Silent_p.K132K|TNNT3_ENST00000360603.3_Silent_p.K128K			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	145					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		AGGATGCCAAGAGGAGGGCAG	0.577000													11	32					0	0	0.013537	0	0
SNAP91	9892	broad.mit.edu	37	6	84375262	84375262	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr6:84375262G>A	ENST00000428679.2	-	3	762	c.169C>T	c.(169-171)Cct>Tct	p.P57S	SNAP91_ENST00000521743.1_Missense_Mutation_p.P57S|SNAP91_ENST00000521485.1_Missense_Mutation_p.P57S|SNAP91_ENST00000437520.1_Missense_Mutation_p.P57S|SNAP91_ENST00000520302.1_Missense_Mutation_p.P57S|SNAP91_ENST00000439399.2_Missense_Mutation_p.P57S|SNAP91_ENST00000195649.6_Missense_Mutation_p.P57S|SNAP91_ENST00000369694.2_Missense_Mutation_p.P57S|SNAP91_ENST00000520213.1_Missense_Mutation_p.P57S			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	57	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GCCATCTGAGGAATATTAACA	0.373000													23	79					0	0	0.014323	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70667701	70667701	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr8:70667701C>T	ENST00000260126.3	-	4	1922	c.1216G>A	c.(1216-1218)Gac>Aac	p.D406N	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.D406N|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.D406N	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	406						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ACTTTTTTGTCCGCTTGTTCA	0.373000													3	31					0	0	0.009096	0	0
CLCNKB	1188	broad.mit.edu	37	1	16381937	16381937	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr1:16381937G>A	ENST00000375679.4	+	17	1875	c.1764G>A	c.(1762-1764)caG>caA	p.Q588Q	CLCNKB_ENST00000375667.3_Silent_p.Q419Q	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CAGAGTCCCAGATCCTGGTGG	0.587000													13	28					0	0	0.004007	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48599398	48599398	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr17:48599398G>A	ENST00000323776.5	+	10	1504	c.1342G>A	c.(1342-1344)Ggg>Agg	p.G448R	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.G411R	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	411					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GCTGTTCTGTGGGAAGCCAGC	0.537000													28	53					0	0	0.009535	0	0
ADAM28	10863	broad.mit.edu	37	8	24167700	24167700	+	Silent	SNP	G	G	A	rs150620720		TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr8:24167700G>A	ENST00000265769.4	+	4	362	c.252G>A	c.(250-252)acG>acA	p.T84T	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000437154.2_Silent_p.T84T|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	84					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CAGGCTACACGGAAACATATT	0.398000													3	14					0	0	0.009096	0	0
ZNF226	7769	broad.mit.edu	37	19	44680393	44680393	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr19:44680393G>A	ENST00000590089.1	+	7	1345	c.978G>A	c.(976-978)caG>caA	p.Q326Q	ZNF226_ENST00000454662.2_Silent_p.Q326Q|ZNF226_ENST00000337433.5_Silent_p.Q326Q|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				AGACCCATCAGAAAGTCCACG	0.438000													10	53					0	0	0.008291	0	0
ZBTB46	140685	broad.mit.edu	37	20	62384102	62384102	+	Silent	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr20:62384102G>A	ENST00000245663.4	-	4	1485	c.1335C>T	c.(1333-1335)ccC>ccT	p.P445P	ZBTB46_ENST00000302995.2_Silent_p.P445P|ZBTB46_ENST00000395104.1_Silent_p.P445P	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CGCAGGGGTAGGGCCGCTCTC	0.652000													12	20					0	0	0.013537	0	0
VWA5A	4013	broad.mit.edu	37	11	123993723	123993723	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr11:123993723G>A	ENST00000456829.2	+	8	1068	c.817G>A	c.(817-819)Gat>Aat	p.D273N	VWA5A_ENST00000392748.1_Missense_Mutation_p.D273N|VWA5A_ENST00000392744.4_Missense_Mutation_p.D289N|VWA5A_ENST00000449321.1_Missense_Mutation_p.D273N|VWA5A_ENST00000360334.4_Missense_Mutation_p.D273N|VWA5A_ENST00000361352.5_Missense_Mutation_p.D273N	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	273										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TATCCCAGAAGATCAACCATC	0.443000													10	33					0	0	0.010729	0	0
OSBPL3	26031	broad.mit.edu	37	7	24932210	24932211	+	Translation_Start_Site	INS	-	-	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr7:24932210_24932211insT	ENST00000313367.2	-	0	332_333				OSBPL3_ENST00000353930.1_De_novo_Start_InFrame|OSBPL3_ENST00000352860.1_De_novo_Start_InFrame|OSBPL3_ENST00000431825.2_De_novo_Start_InFrame|OSBPL3_ENST00000396431.1_De_novo_Start_InFrame	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3						lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TTTAAAAAACATTTTGGGTGGC	0.416													2	4	---	---	---	---					
MAFA	389692	broad.mit.edu	37	8	144511954	144511956	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr8:144511954_144511956delTGG	ENST00000333480.2	-	1	620_622	c.621_623delCCA	c.(619-624)cat>ca	p.HH207del	MAFA_ENST00000528185.1_5'UTR	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	207	His-rich.				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H208delH(3)		breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CGCGCCGCCAtggtggtggtggt	0.744										HNSCC(29;0.082)			4	5	---	---	---	---					
RP11-34D15.2	0	broad.mit.edu	37	10	102104600	102104601	+	RNA	INS	-	-	T			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr10:102104600_102104601insT	ENST00000429420.1	-	0	103																											AAAAATCACAAttttttttttt	0.401													3	4	---	---	---	---					
PLEKHA1	59338	broad.mit.edu	37	10	124152792	124152792	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D3-A1Q8-06A-11D-A19A-08	TCGA-D3-A1Q8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48071b95-d9e0-43ff-81ed-a2b96484d5cb	3885b3d5-ce64-4f80-95ad-7aec6023433f	g.chr10:124152792delC	ENST00000368988.1	+	2	199	c.76delC	c.(76-78)ttfs	p.L26fs	PLEKHA1_ENST00000368989.2_Frame_Shift_Del_p.L26fs|PLEKHA1_ENST00000433307.1_Frame_Shift_Del_p.L26fs|PLEKHA1_ENST00000538022.1_Frame_Shift_Del_p.L26fs|PLEKHA1_ENST00000494222.1_3'UTR|PLEKHA1_ENST00000368990.3_Frame_Shift_Del_p.L26fs			Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	26	PH 1.				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGGAAATTTCTTCGAAGGTA	0.368													15	29	---	---	---	---					
